BARTH SYNDROME Responding to a Genetic Disorder: A Case … · 2021. 4. 27. · Peter Barth. This article described an X-linked recessive genetic condition that had ravaged one Dutch

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Responding to a Genetic Disorder:A Case Becomes a Cause

HEALTH ADVOCACY BULLETINThe Journal of the Health Advocacy Program at Sarah Lawrence College

VOLUME 12, NUMBER 1 FALL 2004

By Katherine R. McCurdy

In This IssueBarth Syndrome—Responding to a Genetic Disorder: A Case Becomes a Cause ...................... 1Introducing our Guest Editors ........................................................................................................... 2Debating Autism

Autism: Piecing the Puzzle—Together. ....................................................................................... 3A Response: Vaccine Safety and Autism: The System Is “Broke,” Let’s Fix It… ................... 8A Brief Reply. ................................................................................................................................. 10

In Search of Common Ground: A Survey of Publicly Sponsored DebateAbout Genetics and Reproduction ...............................................................................................11

Race and Genetics: Not a Matter of Black and White ................................................................... 15Genetic Privacy—What’s Happening at the Federal Level?........................................................ 17Eugenics, Reprogenetics and Newborn Screening: A Valuable Day of Discussion ................. 18Genetics and Health Advocacy: A Dual Degree for 21st Century Healthcare ........................... 19Advocates and Genetic Counselors, Unite!—An Internship at The March of

Dimes Pregnancy and Newborn Health Resource Center Lays theFoundation for Future Genetics Advocacy Initiatives ............................................................. 20

Clinical Research and Tissue Banking: An Ethics Perspective .................................................... 22Researching Genetic Conditions on the Internet ........................................................................... 25From the HAP Director ..................................................................................................................... 26From the HGP Director ..................................................................................................................... 27

Continued on page 14

It was a Saturday in April 1988 andmy mother-in-law’s 70th birthday.Unbeknownst to her, the entire fam-

ily was arriving from around the coun-try to celebrate. Our only hitch was mi-nor, we thought: our two-year-old sonhad a cold and had awakened early, cry-ing and uncomfortable. When we pickedhim up, he seemed OK (except for somecongestion), but my husband and I im-mediately noticed that his chest washeaving visibly with every rapid heart-beat. As morning broke, I called the pe-diatrician to ask if he could squeeze usin, which he graciously did. Upon exami-

nation, the doctor agreed that my son,Will, did not seem in distress; he wasconcerned, however, that Will mighthave an infection that would require in-travenous antibiotics. He instructed meto go to our regional tertiary carehospital’s Emergency Room where theChief of Pediatric Cardiology, whom hehad already alerted, would meet us. Ashe spoke, I heard the first of many medi-cal terms that were completely new tome that day—”tachycardia.” We werealready aware of some mysterious grossmotor problems that our son had exhib-ited, but we had taken him to many ofthe best medical centers up and downthe East Coast, and none of the top-notch

specialists had been able to make a diag-nosis. Anything cardiac was new. I re-member wondering in the ER whetherall this might lead to something biggerand broader. Little did I know that wewere embarking on the journey of a life-time.

The cardiologist, whom we soon cameto revere for his knowledge and sensi-tivity, told us that Will was very sick andmight need a heart transplant. Will wasadmitted to the Pediatric Intensive CareUnit. Four hours earlier, we had thoughtwe were dealing with a cold! We weresuddenly thrust into a world aboutwhich we knew almost nothing…andthe life of our child was at stake. Fortu-nately, we were in excellent hands. Un-fortunately, we were going to discoverthat even the best physicians had fewsatisfying answers.

Numerous specialists were sum-moned to analyze Will’s array of medi-cal problems. It was determined that hesuffered from neutropenia (periods dur-ing which one type of white blood cellwould vanish, leaving him dangerouslysusceptible to infection) in addition tocardiomyopathy and skeletal muscleweakness. A computer search for anydisorder that shared these three primarymanifestations yielded a single paperwritten by a Dutch neurologist namedPeter Barth. This article described an X-linked recessive genetic condition thathad ravaged one Dutch family andsounded very much like what Will had.But we had no hint of this in our familytree.

The gene for this syndrome had notyet been identified, and there was nomarker test available. The geneticist withwhom we were working wrote to Dr.Barth seeking his advice about the diag-nosis and inquiring about treatments that

BARTH SYNDROME

Special Issue: Health Advocacy and Human Genetics

2

When Marsha Hurst, Director ofthe Health Advocacy Pro-gram (HAP), and Caroline

Lieber, her counterpart in the HumanGenetics Program (HGP), called for stu-dent volunteers to serve as editors forthis issue of the Health Advocacy Bulletin,we jumped at the opportunity. The Bul-letin is the journal of the HAP at SarahLawrence College, and this issue marksthe first edition jointly published by theHAP and the HGP.

The cracking of the code for the hu-man genome is an earthshaking event.Although scientists have barely begununraveling the function of an estimated35,000 genes, along with their proteinproducts, it is clear that a new biologicalparadigm has already taken hold amongboth scientists and the general public. In

From the Editorscreating this new biological paradigm, itis crucial that all affected parties have aseat at the table.

We like to believe we are far beyondthe era of Edward Jenner who, drawingupon folklore that milkmaids exposed tothe mild disease cowpox were immunefrom smallpox, injected several childrenwith pus from cowpox pustules. Thecriticisms of his contemporaries weremisplaced in that they ignored the im-propriety of using these children asguinea pigs. Fortunately, his efforts weresuccessful and his theory proved valid.Sadly, however, the tendency to trust sci-entists and medical practitioners to “first,do no harm,” has too often allowed hor-rendous outcomes, viz., the Tuskegeestudy or the sterilization of women onwelfare. In this issue, Rachel Grob out-

lines some social and ethical issues thatare addressed in helping create this newbiological paradigm for SLC studentsenrolled in both the advocacy and genet-ics programs. Meg Howard attests to thevalue of these joint studies in her articleattempting to bridge the two disciplines.

It is at the nexus of concerns of geneti-cists and advocates that we have tried toposition this special Bulletin. The articlesby Alice Herb and Kathi Hanna discussspecific areas in which medical, ethicaland moral issues collide, as well as sub-sequent attempts to reconcile this welterof competing agendas. Unfortunately,when governments participate in theseattempts, they often assume moral man-dates well beyond their electoral majori-ties (e.g., stem cell research). On the otherhand, majority opinion does not neces-sarily align with truth. See Pat Banta’shistorical perspective on U.S. govern-ment attempts to engage in the creationof this emerging biological paradigm.

Ever at the vanguard of knowledge,scientists consistently push the envelope,and advocates, striving to protect the in-nocent, used and abused, push anofttimes competing envelope. Anadvocate’s awakening is poignantly re-lated by Katherine McCurdy in her pieceabout Barth syndrome. And two articlesabout autism are presented as a point–counterpoint, illustrative of the tensionat the nexus of genetics and advocacy—a necessary, but hopefully creative, ten-sion.

With the advent of the internet, infor-mation has become infinitely more acces-sible, but as a double-edged sword; mis-information is also readily at hand. Ge-netic information is much desired bypatients, their caregivers and relatives,and Paige Hankins helps readers sort outthe good from the bad in her guide tousing this new vehicle effectively. PeterThom and Sharmila Padukone take ge-neticists to task for their importation ofsocially constructed racial terminology,which, in genetic terms, is misleadingand imprecise. Finally, Erin Carter re-ports on a visit to Sarah Lawrence byDiane Paul, author of several books oneugenics, evolution and the politics ofheredity.

Inevitably, the fields of genetics andadvocacy have become inextricably in-tertwined. In this issue, we have tried todraw on the expertise of those in bothdisciplines to reflect ways in which jointefforts are contributing to the develop-ment of a genetic citizenship.

—Peter Thom andSharmila Padukone

Two Human Genetics Program students, Peter Thom and Sharmila Padukone, have workedhard as both editors and authors to help create this special issue. We thank them and take greatpleasure in introducing them to our readership.

Born in Edinburgh, Scotland, Peter came to the U.S. by wayof Montreal. After a successful career as a singer, songwriter andcomposer, he decided to embark upon a new challenge. His long-standing interest in genetics, fueled by discussions with hisbrother-in-law about his work with the genome project, led toPeter’s decision to enter the HGP last year. He is most grateful

that his wife and daughters are enthusias-tic supporters of this metamorphosis.

Sharmila’s interest in genetics began inIndia, where she received an undergradu-ate degree in zoology and a masters in cy-tology and genetics. Starting with a researchfellowship, she worked in cancer endocrinology, pharmacoge-netics and population genetics before coming to the United Statesin 1999. Sharmila is also an interior designer, a photographer andan Indian classical dancer. She appreciates the support of her fam-ily, especially her daughter Anvita, who has been staying in In-dia so that Sharmila could concentrate on her studies.

INTRODUCING OUR GUEST EDITORS…

The HEALTH ADVOCACY BULLETIN is a publication of the HealthAdvocacy Program at Sarah Lawrence College, One Mead Way,Bronxville, New York 10708.

Editor: Lucy Schmolka, MA.Program Director: Marsha Hurst, PhD.Production: Riverside ResumesEmail: [email protected] material in the HEALTH ADVOCACY BULLETIN is the property of the authors andmay not be reprinted without permission. Opinions expressed are not necessarily thoseof the editor or of the Health Advocacy Program.

www.slc.edu/health_advocacy

Sharmila Padukone

Peter Thom

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The headline in The New York TimesMarch 4, 2004 leapt out: “Re-searchers Retract a Study Linking

Autism to Vaccination.” For severalyears, a fierce controversy has been sim-mering; on the one hand are those whoclaim a link between autism and earlychildhood measles, mumps and rubellavaccinations (MMR) and, on the other,those who assert that no such link hasever been proved.

The retracted study was originallypublished in February of 1998 in The Lan-cet (Wakefield et al., 1998). Twelve chil-dren with chronic enterocolitis and re-gressive developmental disorder werestudied. The authors stated clearly intheir discussion section: “We did notprove an association between measles,mumps, and rubella vaccine and the syn-drome described.” At the press confer-ence when the study was released, how-ever, the lead author suggested that anassociation might well exist, and thatparents might wish to consider singlevaccinations for measles, mumps andrubella, rather than the combined shot.This suggestion apparently found a wideaudience. As Mayer (2004) discoveredfive years later, in Britain, the autism/MMR link had gained such wide cre-dence that MMR vaccination rates hadfallen by more than 10% to 82% (95% isthe goal for control or eradication of mostdiseases).

Unfortunately, during that five-yearperiod the frequency of measles out-breaks in Britain increased as well, withconsequences unknown. For historicalpurposes it is useful to note that, accord-ing to the U. K. National Health Service,prior to widespread MMR immuniza-tion, 500,000 children contracted measleseach year, resulting in 100 deaths. After1968, as the vaccination uptake slowlyincreased, infections gradually de-creased. There have been no acutemeasles deaths reported in the UnitedKingdom since 1992 (National HealthService, U. K.). As recently as 1999, therewere nearly 870,000 deaths worldwide

Autism, a controversial topic involving genetics and advocacy, has received recent attention in the scientific and popular media. Followingare an article on the subject written by two HGP students, a response from an autism advocate and a reply to the response. Readers are invitedto contribute to the discussion by submitting their personal views, which we will share in future issues.

By Peter Thom and Shifra Krinshpun

Autism: Piecing the Puzzle—Togetherfrom measles, mostly in countries thathad not implemented vaccination pro-grams (World Health Organization,2004). Indisputably, vaccination hassaved lives.

Since that Lancet study was publishedin 1998, there have been many studiesrefuting the autism/MMR connection.For example, in 2001, a study in The Jour-nal of the American Medical Associationfound that, although autism cases inCalifornia increased by 373% between1980 and 1994, MMR uptake during thatperiod increased only by 14% (Dales,Hammer & Smith, 2001). And, in a sys-tematic review of current epidemiologi-cal evidence, the results of 12 major stud-ies examined showed that “The currentliterature does not suggest an associa-tion between ASD [autism spectrum dis-order] and the MMR vaccine; however,limited epidemiological evidence existsto rule out a link between a rare variantform of ASD and the MMR vaccine.”Their concluding recommendation was,“Given the real risks of not vaccinatingand that the risks and existence of vari-ant ASD remain theoretical, current poli-cies should continue to advocate the useof the MMR vaccine” (Wilson, Mills,Ross, McGowan & Jadad, 2003).

The theory that vaccines are linked toautism gained adherents in the UnitedStates after thimerosal was identified asa viable cause, worthy of investigation.Thimerosal, a mercury-containing com-pound, is a known neurotoxin and haslong been used in certain vaccines toprevent microbial contamination. How-ever, thimerosal cannot be used in MMRbecause MMR is a live vaccine andthimerosal would kill the vaccine’s in-active viruses used to prod the immunesystem into generating protective anti-bodies. The thimerosal controversy rageson, though, because of its use in otherchildhood vaccines (e.g., DPT). There areseveral papers describing large studiesthat have shown no causal link betweenthimerosal and autism (Verstraeten et al.,2003; Reading, 2004; IOM, 2004). On May17, 2004, an Institute of Medicine (IOM)press report summarized their findings

to date: “The committee concludes thatthe body of epidemiological evidencefavors rejection of a causal relationshipbetween the MMR vaccine and autism.”

Fortunately, the fourth estate thrivesnot only on hyping controversy but alsoon uncovering scandal. The New YorkTimes story cited earlier would perhapsnever have been written, and the de-bunking of the connection of MMR vac-cines to autism never widely dissemi-nated, but for a scandal involving thelead author of the study (Wakefield etal., 1998). He had apparently earned over$100,000 as an expert witness in a legalcase involving some of the children inthe original study—a clear conflict ofinterest that he never declared. Whenthis came to light, The Lancet’s editors,along with most of the article’s authors,were duly embarrassed, leading to theretraction of the article.

Changing Clinical CriteriaThe Centers for Disease Control and

Prevention (2004) summarizes the re-sults of several studies indicating that theincidence of autism ranges from 3.4–6.7/1000 children. Autism can be devastat-ing for both the affected children andtheir parents. Between 40% and 70% ofautistic children have mental retarda-tion; about 25% have epilepsy (Aurenan,2002). A recent study of autistic adultsby Howlin, Goode, Hutton & Rutter(2004) found that “within the normal IQrange outcome was very variable and,on an individual level, neither verbal norperformance IQ proved to be consistentprognostic indicators. Although out-come for adults with autism has im-proved over recent years, many remainhighly dependent on others for sup-port.”

Why has the prevalence of autism in-creased so dramatically? According tosome medical researchers, the prepon-derance of evidence shows that clustersof higher incidence of autism in NewJersey and California are more likely toreflect the application of recently broad-ened diagnostic criteria and greaterawareness on the part of both parents

D E B A T I N G A U T I S M

Continued on page 4

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Autism: Piecing the Puzzle—Together

Continued from page 3

and professionals rather than any envi-ronmental contamination or causativeenvironmental factors that are particu-larly concentrated in those specific re-gions (Jick & Kaye, 2003; Coury & Nash,2003). Likewise, the drastic increase inprevalence estimates of autism from 2-5in 10,000 to more than 1 in 1,000 is alsolikely to have been the product of therevised diagnostic definitions (Folstein& Rosen-Sheidley, 2001), enumerated bythe ICD-10 (World Health Organization,1993) and the DSM-IV (APA, 1994). En-vironmentalists counter these studies byinsisting that clusters are difficult toverify using standards of knowledgebased on epidemiological methodologybecause of the small size of most clus-ters. They assert that cluster studies areconsistently undervalued by main-stream medical researchers, who use amethodological approach inherently bi-ased against environmental impact onsmall populations (Steingraber, 1998).

The broadening of the diagnostic cri-teria did not occur suddenly but devel-oped gradually, undergoing several re-visions to accommodate the findings ofresearch that examined and evaluatedthe autistic phenotype. From thesechanges in diagnosis, many patients pre-viously unlabeled are now deemed au-tistic. The California Department of De-velopmental Services (2003) reportedthat an analysis of statewide data from1987 to 2002 showed that “The greatestyearly proportional changes were reduc-tions in the percent of persons with au-tism and a coexisting diagnosis of Mod-erate, Severe or Profound MR and thecorresponding increase in the percent ofpersons with [autism and] no mental re-tardation.” Logically, if vaccinationscaused this overall increase in autism,there should have been a proportionalincrease across the spectrum. Yet, the in-crease was restricted to those with noconcomitant mental retardation.

Nevertheless, the question remains: isthe increased incidence in autism “real,”i.e., not attributable to better ascertain-ment of hitherto undiagnosed but af-fected people? As Lisa A. Croen andJudith K. Grether (2003) have stated,“Unfortunately, we currently lack thedata to evaluate secular changes in au-tism incidence. By using a standardizedcase definition and multiple-source caseascertainment strategy over time in a

well-defined population, the true rate ofoccurrence of autism can be evaluated.”This is an important question becausethe case for an environmental insult asthe cause for the observed increased in-cidence of autism rests largely on theassumption that the preponderance ofthis increase is real.

The first clinical description of autismwas presented in 1943 by Leo Kanner,an American child psychologist, whocharacterized 11 children, mostly boys,as having tendencies to withdraw so-cially and isolate themselves, behaviorsthat precluded social interaction. Hecalled this unique behavior infantile au-tism, reflecting its early onset. Kannerformulated the condition appropriatingEugen Bleuler’s term autism, coined in1916 as a behavioral description ofschizophrenics, who also often with-draw from public settings. The histori-cal association between Bleuler’s autismand schizophrenia influenced the clas-sification system presented in the secondedition of DSM (APA, 1968), which in-cluded autistic disorders under the di-agnostic criteria of childhood schizo-phrenia (Auranen).

Based on the early presentations ofautism, Kanner had hypothesized thatthere may be an underlying genetic orneuropathological component respon-sible for the behavioral patterns seen.However, his later suggestion that theautistic phenotype is precipitated by par-ents’ cold, inattentive attitudes towardthe child gained more notoriety than thescientific-based explanation. The psychi-atric community’s endorsement ofparenting deficiencies as the cause ofautism followed, and was influenced by,several factors. First, there was specula-tion that the lack of dysmorphic featuresnormally associated with cognitivelyimpaired children contradicted the ideathat autism was an inborn disorder. Sec-ond, the observation that the parentstended to be socially reticent bolsteredthe concept that the child’s autistic be-havior was learned. Finally, the psychi-atric model that prevailed during the1950’s pinned everything on deficientparents and early upbringing. Coldmothers, so-called “refrigerator moth-ers,” were seen as the cause of the so-cially-isolated phenotype seen in autism(Folstein & Rosen-Sheidley; Rutter, 2000).

In the third edition of DSM (1980), af-ter the hypotheses and works of BernardRimland, Susan Folstein, Michael Rutter

and Lorna Wing had been recognized,autism emerged as a separate and dis-tinct syndrome. In 1964, Rimland pro-posed the neural theory of behavior,which challenged the assumed causal-ity of bad parenting. In 1977, Folstein’sand Rutter’s autism twin study demon-strated greater concordance between MZ(monozygotic) twins than DZ (dizy-gotic) twins, establishing a strong geneticbasis for autism. In other words, whilethe risk that both fraternal twins will beaffected with autism is ≈ 3-7%, the com-parable risk for identical twins is ≈ 60%(Stodgell, 2000). Because identical twinsshare an exact complement of geneswhile fraternal twins share only half, ge-neticists have definitively concluded thatheredity plays a significant role in au-tism.

Lorna Wing, in 1979, identified thetriad of abnormalities found in varyingdegrees of severity among affected in-dividuals: socialization, social commu-nication and social play (Auranen). Thistriad of abnormalities was used in theclassification system by the DSM-III indelineating diagnostic criteria for agroup of autistic-like disorders, collec-tively known as pervasive developmen-tal disorders (PDD). In the revised ver-sion, DSM-IIIR, the criteria expanded toinclude yet another subgroup namedpervasive developmental disorder nototherwise specified (PDD-NOS), whichincluded Asperger syndrome (AS).

Wing (1997) further expanded the ex-isting diagnostic criteria by includingcases of mild mental retardation, abnor-mal development in verbal and commu-nication skills, and female cases. TheDSM-IV, published in 1994, reflectedWing’s modified criteria and includedAS. The ICD-10 also redefined its PDDcategory, adopting the new diagnosticdefinitions (Auranen).

The current PDD spectrum has broad-ened still further to include Rett syn-drome and Childhood DisintegrativeDisorder (CDD). Rett syndrome is an X-linked genetic disease characterized byprogressive neurological degeneration,marked by rapid deterioration of psy-chomotor skills and subsequent stabili-zation. This disorder is almost exclu-sively seen in females, so it is speculatedthat the disease is lethal among males inthe prenatal/neonatal period. Recently,a gene has been found to be the cause ofRett syndrome (Amir et al., 1999).

Continued on page 5

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Advocacy: Responsible—and Irresponsible

Parents of autistic children crave reli-able information that might put theirlives into perspective. They becomestressed over how difficult it is—will al-ways be—to care for these children. Theyagonize about who will care for the childafter they have gone (autistic patientsappear to have a normal life span). Me-dia dissemination of faulty science, as ex-emplified by the retracted study(Wakefield, 1998), has helped persuademany parents that vaccinations were toblame for their children’s autism.

But the media, unfortunately, are notalone; advocacy groups must share partof the blame. In researching this paper,we were struck by what ChristopherTrevors, a recent HGP graduate, re-ported in his thesis (Trevors, 2003). Thethesis proposal was to interview parentsof autistic children to elucidate the psy-chosocial issues of daily life for theirfamilies and educate genetic counselorsdealing with such families. He describes

the difficulty recruiting families: “I con-tacted the organizer of the local chapterof the Autism Society of America (ASA).At first she was very excited by the ideabehind my project and was eager to helpme obtain other families to participate.This enthusiasm lasted until she discov-ered that I was a genetic counseling stu-dent. She immediately responded with,‘This isn’t our fault; we didn’t give thisto our children.’ ” Trevors also describesthe guilt, defensiveness and unrespon-siveness he found among parents of au-tistic children.

While writing this article (April toJune, 2004), we visited the website forthe ASA on several occasions. Duringthis period we could not find there anylinks highlighting the recent retractionby The Lancet of the article by Wakefieldet al. (referenced earlier in The New YorkTimes). On the website, the link “Theo-ries on the Causes of Autism” led us tothis: “In a 2001 investigation by the In-stitute of Medicine (IOM), a committeeconcluded that the ‘evidence favors re-jection of a causal relationship... betweenMMR vaccines and autistic spectrum

disorders (ASD).’ The committee ac-knowledged, however, that ‘they couldnot rule out’ the possibility that the MMRvaccine could contribute to ASD in asmall number of children. While otherresearchers agree the data do not sup-port a link between the MMR and au-tism, more research is clearly needed.”Fair enough, given the state of knowl-edge in 2001. But, as noted above, thereis much in the way of new evidence inthe last three years.

One of the principal presenters at themost recent meeting of the IOM (Febru-ary 9, 2004) was Kumanan Wilson, who,in his 2003 study of epidemiological evi-dence concerning the MMR/autism link,concluded that the real risks of not vac-cinating outweighed the theoretical riskof the MMR/autism link. Initially (April,2004), we could not find mention of thisstudy, or its conclusions, anywhere onthe ASA’s website. By contrast, severalother presentations at the same confer-ence were noted—those highlighting thepurported link between thimerosal and

Continued on page 6

PDD Disorder

Infantile

Autism

Asperger

Syndrome

Rett

Syndrome

PDD-NOS

CDD

Clinical Characteristics/ Age of Diagnosis

Delayed onset or regression of speech which can be associated with other cognitive defi-

cits; frequent failure to develop attachment to their caregivers as well as minimal interest in

their age-related peers; tendency to express rigid and repetitive (R & R) behaviors, includ-

ing hand flapping, and preoccupation or intense focus on specific interests; frequent defi-

cits in social aspects of communication (pragmatics) such as the inability to display interest

in the thoughts of others, to maintain eye contact, and to know when to stop talking; fre-

quent demonstration of echolalia. Signs are present at birth, with R & R appearing at 36

months. Diagnosis usually occurs during second to third year of life.

Typically not associated with cognitive defects; motor clumsiness is frequently observed;

normal language development; repetitive speech may be observed; frequent inability to

empathize and interact socially; commonly considered as loners; highly functional.

Display normal psychomotor development until six to eight months with regression in lan-

guage and motor skills thereafter; neurological degeneration associated with severe cog-

nitive impairment; characteristic hand-wringing movements, body-rocking; socially with-

drawn; 50% have seizures; development of hand and foot deformities are common; major-

ity of cases are females; prevalence 1/10,000 – 1/15,000; usually diagnosed between two

and five years of life.

Some autistic features are present, however they do not meet the full criteria for autism;

deficits in communication and social interaction are generally milder than a typical autism

case. Individuals usually have higher functioning and typically respond to treatment.

Development is normal for two or more years before showing loss of nonverbal communi-

cation, language and social skills, as well as motor skills and other acquired functional

skills. Least common diagnosis/prevalence of PDD disorders.

References

Folstein, S.E. & Rosen-

Sheidley, B., 2001; Wing,

L., 1997; DMS-IV (APA)

ICD-10

Miles, J.H. & McCathren,

R.B., 2003; Auranen, M.,

2002

Zoghbi, H.Y., 2004;

Department of Develop-

mental Services,

California, 1999


mental Services,

California, 1999


mental Services,

California, 1999; Miles, J.H.

& McCathren, R.B., 2003

Pervasive Developmental Disorders *

* Not all forms are included.

6


autism. On the home page, and highlyvisible, there was a link to a study de-scribing mechanisms whereby thimero-sal may adversely affect neuro develop-ment (Waly, 2004).

In May, the ASA website did reporton the conclusions of the IOM press re-lease of May 17, 2004, which found nocausal relationship between either MMRand autism, or thimerosal and autism.Dr. Tom Saari, a professor of pediatricsat the University of Wisconsin MedicalSchool in Madison and a member of theAmerican Academy of Pediatrics (AAP)committee on infectious diseases, de-scribed that report as “awful darn closeto the final word” (Gardner, 2004). How-ever, the ASA (May 2004) rejects thestudy’s conclusions stating: “Those inthe autism community who believe thereis a link argue that vaccines only affect asmall portion of the total populationwith autism—those who are geneticallypredisposed—and thus large-scale, epi-demiological studies, which do notprove cause and effect, cannot appropri-ately answer the question at hand.” Thepresident of the ASA further elucidatedits position, saying, “Right now, we havetwo hypotheses in juxtaposition to oneanother. No matter which one is provedor disproved, until we study the actualpopulation allegedly affected, we willnot have a resolution to this personal andhuman tragedy.”

It can be plausibly argued that large-scale epidemiological studies may notpick up an environmental/genetic linkto autism among a small subset of indi-viduals with autism. For this reason, weconsider the case for a thimerosal link toautism not yet definitively disproved,though the preponderance of evidenceto date weighs against such a causal link.The IOM study released in May 2004noted that “…the body of epidemiologi-cal evidence favors rejection of a causalrelationship between thimerosal-con-taining vaccines and autism. The com-mittee further finds that potential bio-logical mechanisms for vaccine-inducedautism that have been generated to dateare theoretical only.”

From “Refrigerator Moms” toCandidate Genes

By the mid to late 1960’s, there wassome evidence implicating neurobiologyand genetics in autism. By 1977, the first

epidemiological twin study producedvery high heritability estimates for au-tism (Folstein & Rutter), suggesting sig-nificant genetic causes. This was evenmore striking when a broader pheno-type, including milder social and cogni-tive deficits, was examined. Identicaltwins, originally judged not to sharesymptoms of autism under narrowerdiagnostic criteria, more frequently didshare milder forms of social reticenceand language disabilities. Siblings andparents of autistic children also tendedto be more socially reticent and havemore communication deficiencies anddifficulties with changes in routines thancontrols (Eisenberg, 1957; Steffenberg,1989; Bailey, 1995).

One of the unexplained peculiaritiesof autism is the sex ratio of affected chil-dren. Overall, it is reported as beingabout 4:1, male:female. However, thisratio is even higher in the milder phe-notype. The currently accepted geneticmodel for autism posits anywhere fromtwo to ten interacting gene loci (epistaticgene loci theory)—most likely three tosix genes. The variation in severity ofsymptoms between individuals is ex-plained by this model as being depen-dent upon the number and the specificmix of interacting genes a child inherits(Pickles, 2000).

An alternate theory involves the im-mune system. There appears to be moreautoimmune disease in families of au-tistic children than in controls withoutautism (Comi, 1999). This is a class ofdisorders in which the body’s defensescannot distinguish “self” from “other”and attack the body’s own tissue; e.g,multiple sclerosis, rheumatoid arthritisand early onset diabetes. The theory isthat there may be an inherent suscepti-bility for autism in some people that istriggered by environmental and/or im-munogenetic risk factors. In June 2004,M. Hornig, D. Chian and W. I. Lipkinreported a study on the link betweenenvironmental and immunogenetic fac-tors. Their conclusions, released on theheels of the May 2004 IOM study, sup-plied additional fuel to the raging con-troversy over the use of thimerosal invaccines. The authors found that micewith inbred immune deficiencies devel-oped autism-like symptoms when ex-posed to quantities of thimerosal propor-tionate to those received by human chil-dren. Without doubt, this study shouldprompt further investigation. However,

we would urge some caution: precise ex-trapolation of biochemical effects fromthe mouse model to humans is not al-ways valid. Moreover, autism diagnosesare difficult enough in humans, let alonein mice. And the study makes the specu-lative assumption that autism is the con-sequence of an autoimmune reaction.

Whichever theory turns out to be cor-rect, it is likely to be better elucidatedthrough genome screens of families withautism. A number of these have beencompleted and more are currently un-der way. The data thus far are confus-ing, pointing to many candidate genes,consistent with the epistatic loci theorydescribed above. Moreover, there is verylittle overlap of candidate genes fromone study to another. One alternate ap-proach has been to examine genes in re-gions of a chromosome linked to autis-tic families, in particular, genes that playa role in fetal brain development. An-other is to study potential genetic differ-ences between MZ twins who are dis-cordant. In other words, in cases whereidentical twins do not share autisticsymptoms, close study of each twin maytease out some answers, whether theyare genetic or environmental. Geneticexplanations for autism, as for many so-called multifactorial diseases, are likelyto be quite complex, involving inherentsusceptibilities as well as possible envi-ronmental triggers. Interpreting them forthe lay public will require both geneti-cists and advocates to become familiarwith a plethora of complex, rapidly-changing and often contradictory re-search results.

Some Final ObservationsThe peer review process must effi-

ciently screen out poorly designed stud-ies, thereby preventing widespread dis-semination of studies of dubious merit.The retracted study in The Lancet, high-lighted earlier, has been criticized bymany, including Professor TrishaGreenhalgh, an expert on evaluating sci-entific studies and the author of How toRead a Paper—the basics of evidence-basedmedicine. She concludes her evaluationwith a scathing indictment: “In conclu-sion, the Wakefield study was scientifi-cally flawed on numerous counts. I amsurprised that neither the editor nor thereviewers spotted these flaws when thepaper was submitted. Had they done so,the public would have been saved theconfusion and anxiety caused by false

Continued on page 7


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credibility conveyed by publication ofthe study in this prestigious journal”(Greenhalgh, 2004).

Although the purported links be-tween autism and both thimerosal-con-taining vaccines and MMR vaccineshave now been found to be tenuous,much of the public still believes theclaims. One of the authors of this article,who has a relative with autism, recentlyreported to the boy’s mother about thenumerous studies presenting evidenceagainst the autism/vaccine linkage. Themother responded that she had thoughtit was proven and seemed disturbed to

American Psychiatric Association, A.P.A. (2000).Diagnostic and statistical manual of mental disorders(4th Text Revision ed.). Washington, D.C. AmericanPsychiatric Association. (This is the most recent of thevarious DSM editions cited in this article.)

Amir, R. E., Van den Veyver, I. B., Wan, M., Tran,C. Q., Francke, U., Zoghbi, H. Y. (1999). Rett syndromeis caused by mutations in X-linked MECP2, encodingmethyl-CpG-binding protein 2. Nature Genetics, 23,185-8.

Auranen, M. (2002). Molecular genetics of autismspectrum disorders in the Finnish population. Academicdissertation, November 15, 2002. Department ofMolecular Medicine, National Public Health Instituteand Department of Medical Genetics, University ofHelsinki, Helsinki, Finland.

Autism Society of America. (2004, March 28).Retrieved from http://www.autism-society.org/site/PageServer

Autism Society of America. (2004, May 20).Retrieved from http://www.autism-society.org/site/News2?page=NewsArticle&id=6959& JServSessionIdr012=ddk3sdmom1.app20a&security=1&news_iv_ctrl=-1

Bailey, A., Le Couteur, A., Gottesman, I., Bolton,P., Simonoff, E., Yuzda, E., Rutter, M. (1995). Autismas a strongly genetic disorder: evidence from a Britishtwin study. Psychol. Med., 25, 63–77.

Centers for Disease Control and Prevention. (2004,August 5). Retrieved August 8, 2004 from http://www.cdc.gov/ncbddd/dd/aic/about/default.htm

Comi, A.M. et al. (1999). Familial clustering ofautoimmune disorders and evaluation of medical riskfactors in autism. J. Child Neurol., 14, 388–394.

Coury, D.L., Nash, P.L. (2003). Epidemiology andetiology of autistic spectrum disorders difficult todetermine. Pediatr Ann., 32(10), 696-700.

Croen, L.A., Grether, J.K., Hoogstrate, J., Selvin,S. (2002). The changing prevalence of autism inCalifornia. J Autism Dev Disord., 32, 207-215.

Croen, L.A., Grether, J.K. (2003). Response: AResponse to Blaxill, Baskin, and Spitzer on Croen etal. (2002), “The Changing Prevalence of Autism inCalifornia.” Journal of Autism and DevelopmentalDisorders, 33, 2.

Dales, L., Hammer, S. J., Smith, N. J. (2001, March).Time trends in autism and in MMR immunizationcoverage in California [Electronic version]. JAMA, 285,9, 1183-5.

Department of Development Services, CaliforniaHealth and Human Services Agency (1999). Changes

hear that the preponderance of evidencerefutes such a link. It was as if the pur-ported vaccine link had been a receptacleinto which blame for her child’s afflic-tion had safely been placed.

Some assert that no harm has beendone; that if the goal has been to assuagethose who must live with the daily trialsof autism and that goal has been accom-plished, then even false constructs suf-fice as balm. But, as scientists, we shouldrefrain from ends-justify-means argu-mentation. In our opinion, geneticistsand advocates should move to correcttheoretical constructs whenever the pre-ponderance of available evidence con-tradicts those current beliefs. For the sake

of all those who struggle daily with theconsequences of caring for family mem-bers with autism, it is our hope that to-gether, geneticists and health advocatescan begin to undo whatever harmflawed science has wrought to diagnos-tics, research strategies, management,parental counseling protocols and effi-cient use of advocacy resources.

Shifra Krinshpun studied cellular biology,genetics and art history at Brandeis Univer-sity. She is currently working toward hermaster’s degree in the HGP. Guest editor/author Peter Thom is introduced onpage 2.

R E F E R E N C E Sin the Population of Persons With Autism and PervasiveDevelopmental Disorders in California’sDevelopmental Services System: 1987 Through 1999.A Report to the Legislature. Sacramento.

Department of Development Services, CaliforniaHealth and Human Services Agency. (April, 2003).Autistic Spectrum Disorders: Changes In The CaliforniaCaseload, An Update: 1999 Through 2002.

Eisenberg, L. (1957). The fathers of autistic children.Am. J. Orthopsychiatry. 127, 715-724.

Folstein, S. E., Rosen-Sheidley, B. (2001). GeneticsOf Autism: Complex Aetiology for a HeterogeneousDisorder. [Electronic version]. NatureReviews|Genetics, 2, 943-55.

Folstein, S., Rutter, M. (1977). Infantile autism: agenetic study of 21 twin pairs. J. Child Psychol.Psychiatry Allied Disciplines, 18, 297–321.

Fombonne, E. (2003). The Prevalence of Autism.JAMA. 289: 87-89

Gardner, A. (2004, May 26). Panel aims to quashfear of link to autism. The Detroit News. Retrieved fromhttp://www.detnews.com/2004/fitness/0405/26/h08-163880.htm

Geier, D.A., Geier, M.R. (2004). A comparativeevaluation of the effects of MMR immunization andmercury doses from thimerosal-containing childhoodvaccines on the population prevalence of autism[Electronic version]. Med Sci Monit., 10(3), 133-139.

Greenhalgh, T. (2004, April). Retrieved June 6, 2004from http://briandeer.com/mmr/lancet-greenhalgh.htm

Honda, H., Shimizu, Y., Misumi, K., Niimi, M.,Ohashi, Y. (1996). Cumulative incidence and prevalenceof childhood autism in children in Japan. Br JPsychiatry, 169, 228-235.

Hornig,, M., Chian,, D., Lipkin, W.I. (2004).Neurotoxic effects of postnatal thimerosal are mousestrain dependent. Molecular Psychiatry, 1–13.

Howlin, P., Goode, S., Hutton, J., Rutter, M. (2004).Adult outcome for children with autism. J Child PsycholPsychiatry, 45(2), 212-29.

Institute of Medicine of the National Academies.(2004). Immunization Safety Review: Vaccines andAutism.

Jick, H., Kaye, J.A. (2003). Epidemiology andpossible causes of autism. Pharmacotherapy. 23(12),1524-30. Abstract retrieved March 28 from PubMedsite http://www.ncbi.nlm.nih.gov/entrez/query.f c g i ? c m d = R e t r i e v e & d b = p u b m e d & d o p t =Abstract&list_uids=14695031

Madsen, K.M., Lauritsen, M.B., Pedersen, C.B. etal. (2003). Thimerosal and the occurrence of autism:

negative ecological evidence from Danish populationbased data. Pediatrics, 112, 604–606.

Mayer, S. (2004). Authors reject interpretationlinking autism and MMR vaccine. [Electronic version].BMJ, 328, 602.

Miles J.H., McCathren, R. B. (August 27, 2003).Autism Overview. Retrieved April 20, 2004 from http:// w w w. g e n e c l i n i c s . o rg / s e r v l e t / a c c e s s ? i d =8888891&key=JFsA9gTzuGVkP&fcn=y&fw=KSFx&filename=/profiles/autism-overview/index.html

National Health Service, U. K. Has The MMRVaccine Made A Difference? Retrieved April 22, 2004from www.hebs.scot.nhs.uk/services/mmr/pdf/

MMRquestion3.pdf

O’Connor, A. (2004). Researchers Retract a StudyLinking Autism to Vaccination. The New York Times.March 4.

Pickles, A. et al. (2000). Variable expression of theautism broader phenotype: findings from extendedpedigrees. J. Child Psychol. Psychiatry, 41, 491–502.

Reading, R. (2004). Thimerosal and the occurrenceof autism: negative ecological evidence from Danishpopulation-based data. Child: Care, Health andDevelopment, 30, 1, 90.

Rimland, B. (1984). Infantile Autism. New York:Irvington Pub.

Rutter, M. (2000). Genetic Studies of Autism: Fromthe 1970s into the Millennium. Journal of AbnormalChild Psychology, 28(1), 3-14.

Steffenburg, S., Gillberg, C., Hellgren, L.,Andersson, L., Gillberg, I.C., Jakobsson, G., Bohman,M. (1989). A twin study of autism in Denmark, Finland,Iceland, Norway and Sweden. J. Child Psychol.Psychiatry Allied Disciplines, 30, 405–416.

Steingraber, S. (1998). Living Downstream: AScientist’s Personal Investigation of Cancer and theEnvironment. Vintage; Reprint edition.

Stodgell, C.J., Ingram, J.L., Hyman, S.L. (2000).The role of candidate genes in unraveling the geneticsof autism. Int Rev Res Ment Retard., 23, 57-81.

Taylor, B., Miller, E., Farrington, C.P., Petropoulos,M-C., Favot-Mayaud, I., Li, J., Waigh, P.A. (1999).Autism and measles, mumps, and rubella vaccine: noepidemiological evidence for a causal association. TheLancet, 353, 2026-9.

Trevors, C. (2003). Autism: Perspectives for GeneticCounselors. Unpublished master’s thesis. SarahLawrence College, Bronxville, NY.

U.S. National Library of Medicine. (2003,November 16). Stop Measles with Just One Shot.Retrieved March 28, 2004, from http://


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DEBATING AUTISM – A RESPONSE

Childhood vaccines save lives frominfectious diseases, but, like anyother potent medical product,

they can have side effects. Since vaccinesare given to virtually every infant world-wide, diligent characterization of sideeffects and their elimination must be apublic health priority. Unfortunately, ourpublic health officials and vaccine manu-facturers spend far more effort and re-sources on promoting new vaccines andhigher vaccination rates than they do onsafety, to deleterious effect. The MMRvaccine and the mercury-based vaccinepreservative thimerosal, both recentlylinked to autism, provide painful but il-lustrative examples of safety lapses onthe part of health officials and manufac-turers. The inadequate response by theseparties to safety concerns over MMR andthimerosal has led parents to questionimmunization programs.1 Until vaccinesafety oversight is handled properly,public confidence in vaccination willcontinue to erode.

Autism is a severe neurodevelop-mental disorder with onset in earlychildhood. It was once thought to berare, affecting one in 5,000 children, andto be caused by genetic mutations.2 It isonly in the last few years that a connec-tion has been widely made between au-tism and vaccines. There are a numberof reasons for this development.

The prevalence of autism reported inepidemiology studies has steadily in-creased over the past 20 years. In the1990’s, the rate skyrocketed. The Centersfor Disease Control and Prevention(CDC) now gives an official incidence ofautism spectrum disorder among chil-dren of one in 166. While some research-ers argue that the increase is due to bet-ter awareness of the disorder and chang-ing diagnostic criteria,3,4 others have re-futed this hypothesis, saying the increaseis real. For example, the respected epi-demiologist Robert Byrd, in analyzingthe California developmental disabilitiesdata set, declared the increase in autismto be real and not due to such factors as

Vaccine Safety and Autism:The System Is “Broke,” Let’s Fix ItBy Sallie Bernard immigration into the state or changes in

diagnosis.5 A paper by Croen et al. sug-gesting that the increase was due to shift-ing of diagnoses away from mental re-tardation and into autism3 was soundlyrefuted by Spitzer and colleagues,6 acriticism to which Croen et al. acceded. 7As Mark Blaxill points out in an upcom-ing exhaustive review,8 the diagnosticcriteria have not changed enough to re-sult in meaningful differences in inclu-sion/exclusion rates, and, if the inci-dence of autism has always been 1 in 166,why has no one been able to identify the“hidden hordes” of autistic adults whomust exist in group homes and institu-tions? He points to a study in the Mid-western U.S., which failed to find anyadult “hidden hordes.”9 In recognitionof the weakness of research refuting anincrease in incidence, the director of theCDC, Dr. Julie Gerberding, stated in a2004 meeting with autism advocates thatthe weight of the evidence supports atrue increase in the rate of autism.

If autism is truly on the rise, then anenvironmental agent must be involvedin its etiology. Genetics alone cannot ex-plain an abrupt change in disease preva-lence. A gene-environment interactionmakes intuitive sense. As Dr. KennethOlden, Director of the National Instituteof Environmental Health Sciences of theNIH explains, very few diseases are ei-ther purely genetic or purely environ-mental; rather, the vast majority arisesfrom a genetic susceptibility triggered byan environmental insult.

If an environmental agent is involvedin autism etiology, what would be themost likely candidates? The live virusmeasles vaccine and thimerosal are logi-cal choices for a number of reasons. Vi-ruses are known to cause autism andautistic-like symptoms under certainconditions.10-14 Mercury is also known tocause symptoms and abnormalitiesfound in autism.15-19 Parents report nor-mally developing children who regressinto autism after vaccination, providingevidence of a temporal association whichis a necessary component in establish-ing causality. On an ecological level, the

rise in autism prevalence has corre-sponded with the effort of public healthofficials worldwide to improve on-timeand complete compliance with nationalvaccination schedules beginning in thelate 1980’s, and with the introduction oftwo new thimerosal vaccines in the1990’s, the Hepatitis B and theHaemophilus Influenzae type B.20

The biological evidence for an MMRand thimerosal link to autism is compel-ling and growing. Several studies havereplicated the original findings of An-drew Wakefield that a subset of autisticchildren suffer from bowel disease andthat measles virus is present in biologi-cal samples taken from autistic but notcontrol children.21-25 Measles virus hasbeen detected in both the intestinal tractand in the cerebrospinal fluid. While itis not proven that the measles are caus-ing the autism, given that measles,through the SSPE (subacute sclerosingpanencephalitis) disease, is capable ofproducing neurological symptoms, itseems prudent to determine whetherthis is happening in autism.

Biological evidence to date supportsan association between mercury expo-sure and autism. A case-control studyinvestigating mercury levels in baby hairof children later diagnosed with autismfound less mercury despite equal orhigher exposures than the control group,raising the possibility of impaired excre-tion capacity for mercury in autistic chil-dren.26 This finding was replicated byinvestigators at MIT. 27 Another studymeasured mercury in urine after admin-istration of a chelating agent among au-tistic versus normal children. The autis-tic children excreted more mercury withthe intervention, suggesting a highermercury body burden in the patientgroup. 28 Several research labs are find-ing alterations in the methioninetranssulfuration pathway in autistic chil-dren, which can lead to lower glu-tathione levels.29,30 Glutathione is a pri-mary mechanism which the body usesto counteract the harmful effects of mer-cury due to oxidative stress. In fact, thereis mounting evidence that autistic chil-

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dren suffer from increased oxidativestress, which can lead to neurologicaland immune damage.31 Mercury, includ-ing thimerosal, is a potent inducer ofoxidative stress.32

Research on the toxicity to cells ofeven small amounts of thimerosal, likethose found in vaccine doses, is nowemerging in the literature. At such lev-els, thimerosal can cause cell deaththrough apoptosis and inhibit key en-zymes necessary for normal develop-ment.30,33 Results are showing greaterimmunotoxicity from thimerosal thanmethylmercury,34 and equal neurologi-cal toxicity to methylmercury. 35 A studyon mice prone to autoimmunity was re-cently completed by researchers at Co-lumbia University. 15 They dosed infantmice with vaccines containing thimero-sal, following a vaccine schedule simi-lar to the CDC-recommended program,adjusted for mouse developmental ageand weight. The mice developed brainlesions in hippocampus and Purkinjecells, macrocephaly from white matterenlargement, learning difficulties, re-duced exploratory behavior and otherabnormalities characteristic of autism inhumans. An NIH-funded study amongprimates 36 compared brain and bloodlevels after equal doses of mercury fromthimerosal and methylmercury. Whileblood levels were lower for the thime-rosal group, the brain:blood ratio wasproportionately higher relative to themethylmercury group. Long-term mer-cury accumulation in the brain was twicethat for thimerosal, due to its far morerapid conversion to inorganic mercury,a lipophilic form which takes years toleave the central nervous system.37

In fact, the findings from the NIH pri-mate study leave in doubt the conclu-sions of a human study used by publichealth officials to refute claims of harmfrom thimerosal. This study, 38 led by animmunologist with extensive involve-ment in vaccine development, measuredblood mercury levels in infants after vac-cination and found the levels to be lowerthan those expected from methylmer-cury exposure. They inferred that, be-cause blood levels were lower, thechance of harm was minimal. Yet thisgroup did not measure long-term mer-cury levels in the brain, as the primatestudy did. The primate study demon-strates that lower blood levels from

Vaccine Safety and Autism: The System is “Broke,” Let’s Fix it

Continued from page 8 thimerosal can mean higher long-termmercury levels in the brain.

The response from public health offi-cials to the growing biological evidencehas been to counteract it using epidemi-ology studies. These studies, unfortu-nately, have mostly been conducted byCDC insiders or employees of vaccinemanufacturers and suffer from majormethodological deficiencies. Moreover,the data sets relied on for a number ofthese studies have been deliberatelyclosed to other researchers, making rep-lication of the findings impossible.

As Dr. Jeff Bradstreet explained in apaper presented to the Vaccine SafetyReview Committee of the Institute ofMedicine (IOM),39 “Epidemiologicalstudies that have examined the possibleMMR-autism association have con-cluded that the data provide no evidencein support of this hypothesis.40-44 Thesestudies have been challenged on a num-ber of counts including inappropriatemethodology,45 lack of statistical powerand lack of a control group,46-47 indis-criminate diagnostic groupings,48 andnon-disclosure of relevant data. 49 Re-analysis of the data of Dales et al.43 has,in fact, identified a positive associationfor some children.”50

A good example of poorly designedand analyzed MMR epidemiology is arecent study of Atlanta metropolitan areachildren. 51 Here, the authors, from theCDC, chose to determine if there is anMMR-autism link by analyzing whetherage of MMR vaccination impacted au-tism rates, even though MMR timing hasnever been hypothesized as a factor. Yet,the CDC authors chose not to analyzewhether there was a higher rate of au-tism among those vaccinated versusthose not vaccinated with MMR, eventhough there were enough in each groupin the Atlanta cohort for statistical powerto determine if a difference exists. In themeantime, the Atlanta database is offlimits to other researchers who mightwant to examine this comparison. In theU.K., the data sets used to repudiate anMMR-autism connection have also beenclosed to outside epidemiologists.

The evidence against an associationbetween thimerosal and autism has beenalmost exclusively epidemiological.52

The studies cited include one using theCDC’s Vaccine Safety DataLink (VSD),53

one using a Danish registry of autisticchildren, 54 an unpublished study byhealth officials in the U.K. 55 and a study

using Swedish data by a CDC contrac-tor.56 The published VSD study reportedno association between thimerosal andneurodevelopmental disorders, includ-ing autism. Yet earlier, unpublished ver-sions of the data, obtained by advocatesusing the Freedom of Information Act,showed statistically significant associa-tions and/or associations of sufficientstrength to warrant further investigation.While public health officials point to thispaper as ruling out a thimerosal-autismlink, even the lead investigator, ThomasVerstraeten, who now works at vaccinemaker GlaxoSmithKline, has said thatthe VSD analysis is insufficient to ruleout an association.57 The Danish studyrelied on incomplete registry data, sothat new cases coming into the registrywere not included in the analysis, thusskewing the results.58 Several of the au-thors work for Staten Serum Institut, theDanish manufacturer of thimerosal vac-cines and a major exporter of such vac-cines into the U.S. The paper, usingSwedish autism prevalence trends, re-lied solely on in-patient records, whichconstitute a small proportion of autismcases, rendering suspect any analysis ofan autism-thimerosal association. 59 TheBritish study has not been published andutilizes another closed database and thuscannot be evaluated or replicated.

The use of inadequate research pro-grams to evaluate vaccine safety, illus-trated in the case of MMR, thimerosaland autism, is indicative of a pattern.According to evidence-based medicineexpert Dr. Thomas Jefferson, a strongvaccine supporter, “the design and re-porting of safety outcomes in MMR vac-cine studies, both pre- and post-market-ing, are largely inadequate.”45 Likewise,vaccine proponent Dr. Neal Halsey of theVaccine Safety Institute explained to atrade publication that no one at themanufacturers or federal agencies hadthought to calculate the amount of mer-cury being given to infants from vac-cines, and added, “No one knows whatdose of mercury, if any, from vaccines issafe…. We can say there is no evidenceof harm, but the truth is no one haslooked.”60

Post-licensure safety assessment ishandled primarily by the CDC and hasrelied almost exclusively on two datasets: the VSD and the Vaccine AdverseEvent Reporting System (VAERS).VAERS is a passive reporting system andas such has been characterized as unre-


10



liable and unscientific in identifying po-tential causal associations.61 The VSD isderived from automated HMO patientrecords and has been described by CDCstaff as being able to generate at bestweak associations which, if detected,would require further research. 62 TheVSD is a closed database, unavailable toindependent researchers. Only CDCstaff and their designated contractors areallowed to use this data set. The CDChas an inherent conflict of interest in as-sessing vaccine safety, since they arecharged with approving the slate of rec-ommended infant vaccines and increas-ing their uptake, as well as monitoringsafety. 63 It would be difficult for CDCstaff to admit to safety lapses if they werethe ones who approved and promotedthe vaccine in question. As CongressmanDave Weldon recently pointed out at a2004 IOM vaccine safety review meet-ing, out of a billion-plus dollar budgetto promote vaccine expansion, the CDCspends just 1-2% of their vaccine bud-get on safety. Thus, vaccine promotionreceives far more weight at CDC thansafety issues. Clearly, vaccine safety ef-forts need to be bolstered, and responsi-bility needs to be taken out of CDC andgiven to an independent agency with noinherent biases.

The autism increase is real and hasreached epidemic proportions. We can-not afford, morally and financially, forso many of our citizens to be disabled.Parents are demanding credible researchfrom unbiased sources. Parents are ask-ing why biological studies show increas-ing evidence of an association betweenMMR and autism and thimerosal andautism, while the epidemiological as-sessments performed by governmentinsiders and manufacturers appear todisprove a link.

It is not surprising that parents’ trustin our immunization program is erod-ing. This development is alarming giventhe prominent role of vaccination in pre-venting infectious disease. But the solu-tion is not to ignore compelling biologi-cal research and dishonestly disproveunpleasant theories through inadequateepidemiology. The solution is to conducthonest and rigorous investigations intovaccines’ role in autism and relatedneurodevelopmental disorders, to openup taxpayer-supported databases to in-dependent credentialed researchers, todevelop better monitoring systems andto assign responsibility for vaccine safetyto agencies without conflicts of interest.The solution also requires a new mindsetfor public health officials and vaccinemanufacturers, away from one in whichit is acceptable for a small number of

First, Ms. Bernard states, “The MMRvaccine and the mercury-based vaccinepreservative thimerosal [have been] bothrecently linked to autism...” However,little or no scientific support remains forwhat she presents as a given. We will letthe readers decide for themselves be-tween the conclusion by Ms. Bernard ofan MMR and/or thimerosal etiology inautism and the opposing conclusiondrawn by both the CDC and the IOMthat the preponderance of evidence todate shows no connection between thesetwo agents and autism.

Second, much of Ms. Bernard’s caserests on conjuring up a shadowy con-spiracy: e.g., “These studies, unfortu-nately, have mostly been conducted byCDC insiders or employees of vaccinemanufacturers themselves and sufferfrom major methodological deficiencies.Moreover, the data sets relied on for a

A Brief Reply from the Authorsnumber of these studies have been de-liberately closed to other researchers,making replication of the findings im-possible.” Mixed in with salient criticismof the methodology of actual studies areimplications of nefarious motives on thepart of all the researchers who have re-ported against a vaccine link to autism.

Third, Ms. Bernard’s claim that “Inrecognition of the weakness of researchrefuting an increase in incidence, the di-rector of the CDC, Dr. Julie Gerberding,stated in a 2004 meeting with autismadvocates that the weight of the evidencesupports a true increase in the rate ofautism” needs substantiation. It wouldhave been helpful if Ms. Bernard hadprovided further details and a citationfor this statement, apparently made be-hind closed doors, since it is used to but-tress the very foundation of her thesis.

—Peter Thom and Shifra Krinshpun

1. Lewis, R. (2004). Vaccines: victims of theirown success? The Scientist . 18(4). http://w w w. t h e - s c i e n t i s t . c o m / y r 2 0 0 4 / j u l /feature_040719.html

2. Newschaffer, C., Fallin, D., Lee, N. (2002).Heritable and nonheritable risk factors forautism. Epidemio Rev., 24(2), 137-53.

3. Croen, L.A., Grether, J.K., Hoogstrate, J.,Selvin, S. (2002). The changing prevalence ofautism in California. J Autism Dev Disord., 32(3),207-15.

4. Fombonne, E. (2001). Is there an epidemicof autism? (letter) Pediatrics, 107, 411-413.

5. Byrd, R.S. et al. (2002, Oct. 17). Report to theLegislature on the Principal Findings from, TheEpidemiology of Autism in California. TheMIND Institute.

6. Blaxill, M.F., Baskin, D.S., Spitzer, W.O.(2003). A critique of Croen et al. J Autism DevDisord., 33(2), 223-226.

7. Croen, L.A., Grether, J.K. (2003). Response:A response to Blaxill, Baskin and Spitzer onCroen et al., (2002), “The changing prevalenceof autism in California.” J Autism Dev Disord.,33(2), 227-229.

8. Blaxill, M. What’s going on? The questionof time trends in autism. In press.

9. Burd, L., Fisher, W., Kerbeshian J. (1987). Aprevalence study of pervasive developmentaldisorders in North Dakota. J Am Acad ChildAdolesc Psychiatry, 26(5), 700-3.

10. Hornig, M., Briese, T., Lipkin, W.I. (2003).Borna disease virus. J Neurovirol., 9(2), 259-73.

11. Chess, S. (1971). Autism in children withcongenital rubella. J Autism Child Schizophr., 1(1),33-47.

12. DeLong, G.R., Bean, S.C., Brown, F.R. III.(1981). Acquired reversible autistic syndrome inacute encephalopathic illness in children. ArchNeurol., 38(3), 191-4.

children to be harmed for the benefit ofthe greater good in the “war” againstinfectious disease, and toward one inwhich vaccine failures are seen as unac-ceptable, and precaution prevails. A firststep in this direction would be the im-mediate removal of thimerosal from in-fluenza vaccine now routinely recom-mended for our six- and seven-month-old babies. The 2004 flu season is justaround the corner, and only 5 million ofthe 100 million doses of flu vaccine inproduction are being made withoutthimerosal, a situation blessed by ourpublic officials at the CDC.

Sallie Bernard is executive director of theCoalition for Safe Minds, an autism advocacygroup, and President, ARC Research. The par-ent of an autistic son, she is a board memberof national Cure Autism Now Foundation,executive director of New Jersey Cure AutismNow and primary author of “Autism: AUnique Type of Mercury Poisoning.”

R E F E R E N C E S


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In Search of Common Ground:A Survey of Publicly Sponsored DebateAbout Genetics and ReproductionBy Kathi E. Hanna


In the past 30 years, society has faceda steady progression of new advancesin medically assisted reproduction

and genetics that are considered every-thing from miraculous to immoral. Invitro fertilization (IVF) and other assistedreproductive technologies, prenatal di-agnosis, pre-implantation genetic diag-nosis, fetal tissue transplantation, pros-pects for germ-line gene transfer, humanembryo research and now human clon-ing have increased the need for publicdiscussions about difficult public policychoices. Many of these choices, althoughtermed “bioethics,” are, in fact, social is-sues of considerable policy importance.They have substantial implications fordecisions regarding research funding,legislative prohibitions, regulations,moratoria, healthcare financing and re-imbursement.

Since 1974, numerous federal com-missions, committees and panels havebeen created in the United States to de-liberate a wide range of complex bio-medical and ethical issues, of which re-productive technology and/or geneticshave been consistent topics. Bioethicscommissions offer an opportunity formediating points of view among partieswith differing levels and types of knowl-edge. The U.S. government’s forays intothe realm of bioethics have had lastingimpacts on the way society conducts bio-medical research and delivers medicalcare. A brief history of each is presentedbelow.

The National CommissionThe National Commission for the Pro-

tection of Human Subjects of Biomedi-cal and Behavioral Research (NationalCommission) was established in 1974. Aseries of research scandals, including theTuskegee syphilis trials and testing ofhormone analogues among welfaremothers and Mexican-Americanwomen, signaled to Congress that bio-medical researchers were not adequatelypolicing themselves and that some sortof oversight was necessary.

The National Commission was cre-

ated as part of the then Department ofHealth, Education, and Welfare (DHEW)and, fueled by the greater societal debateabout elective abortion, research usingthe human fetus topped the agenda.Within four months of assuming office,the commissioners were mandated toreport on the subject, with the provisothat the presentation of their report tothe Secretary of DHEW would lift themoratorium that Congress had imposedon federal funding of research using livefetuses. In July 1975, the National Com-mission submitted its conclusions andrecommendations in its report Researchon the Fetus, which formed the basis forDHEW regulations on research involv-ing fetuses, pregnant women and hu-man IVF. Those regulations, 45 CFR 46,SubPart B, remain in place today.

When its charter expired, the Com-mission recommended that a successorbody be created, with broader authorityto address issues beyond protection ofhuman participants in research. Issuesregarding the safety of recombinantDNA were of concern, as was the termi-nation of treatment (in the wake of theKaren Ann Quinlan case). Congress cre-ated a more general mandate for a na-tional bioethics organization, thePresident’s Commission for the Study ofEthical Problems in Medicine and Bio-medical and Behavioral Research (thePresident’s Commission).

The President’s CommissionThe President’s Commission was in

operation from 1980 to 1983. It issued 11reports, including one on genetic screen-ing and counseling. A two-year debateabout re-establishing the President’sCommission beyond its initial term be-gan in November of 1982, when its re-port Splicing Life was released at a hear-ing before Albert Gore, Jr., then a mem-ber of the House of Representatives. Thehearing focused on the implications ofhuman genetics, particularly genetherapy. Splicing Life permittedpolicymakers and others to understandclearly that some cases of gene therapywould not be morally different from anyother treatment, pointing to instances

where gene therapy might be technicallypreferable—and morally equivalent—toother treatments.

The President’s Commission recom-mended that the National Institutes ofHealth (NIH) review progress in genetherapy through its Recombinant DNAAdvisory Committee (RAC), and thatNIH consider the broad implications ofcommencing gene therapy. The RACaccepted this recommendation in April1983 and “Points to Consider in the De-sign and Submission of Human SomaticCell Gene Therapy Protocols” wasadopted in 1986 as the keystone docu-ment in public oversight of the new tech-nology.

Continuation of the President’s Com-mission was unacceptable to several con-servative Senators, primarily because oftheir displeasure with the Commission’srecommendations about termination oftreatment at the end of life. Senate con-servatives wanted bioethics broughtunder direct Congressional scrutiny. Theend result was the creation of an entirelynew entity, the Biomedical Ethics Board,composed of members of Congress, andthe Biomedical Ethics Advisory Com-mittee, its operational arm.

The Biomedical Ethics AdvisoryCommittee

The Biomedical Ethics Advisory Com-mittee (BEAC) was a 14-member groupwhose multidisciplinary membershipwas appointed by the Biomedical EthicsBoard (BEB), a process that consumedan inordinate amount of time. BEAC fi-nally met in September 1988, less than aweek before its authorization expired.Meanwhile, the BEB to which it was teth-ered sank deeper into the abortion de-bate. The first mandated report, on im-plications of human genetic engineering,stemmed from the original Gore bill pro-posing an extension of the President’sCommission. The deadline for the sec-ond report, on fetal research, expiredbefore BEAC members were appointed.The fetal research mandate was rein-stated in the Omnibus Health ExtensionAct of 1988 (P.L. 100-607) with the dead-line delayed until November 1990. A

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In Search of Common Ground: A Survey of Publicly Sponsored Debate



third mandate focused on AIDS researchand treatment.

The structure, never stable, began todisintegrate in March 1989, when theSenate Board members were unable toelect a chairman and found themselvesin a partisan logjam along pro-choice/anti-abortion lines. BEAC died in thecrossfire between the two factions andthe office was closed at the end of Sep-tember 1989, without ever having issueda report.

Deliberative Bodies Established at theDepartmental Level

In 1975, the former DHEW an-nounced it would fund no proposal forresearch on human embryos or on IVF,still an experimental technique, unlessit was reviewed and approved by a fed-eral ethics advisory board. LouiseBrown, the first IVF baby, was born inGreat Britain in 1978. The human sub-jects regulations that resulted from theNational Commission’s work requiredreview of this type of research by an Eth-ics Advisory Board (EAB) to be ap-pointed by the DHEW Secretary. In 1977,NIH received an application from anacademic researcher for support of astudy involving IVF. The NIH for-warded it to the EAB. At its May 1978meeting, the EAB agreed to review theresearch proposal.

On May 4, 1979, in its report to theSecretary, the EAB concluded that fed-eral support for IVF research was “ac-ceptable from an ethical standpoint” pro-vided that certain conditions were met,such as obtaining informed consent forthe use of gametes and not maintainingan embryo “in vitro beyond the stagenormally associated with the completionof implantation (14 days after fertiliza-tion).” No action was ever taken by theSecretary with respect to the board’s re-port; for other reasons, the Departmentdissolved the EAB in 1980. Considerableopposition emanated from the RomanCatholic Church about the morality ofIVF, which contributed to paralysis re-garding reconstitution of the EAB.

Since it failed to appoint another EABto consider additional research propos-als, DHEW effectively forestalled anyattempts to support IVF research, and noexperimentation involving human em-bryos was ever federally funded pursu-ant to the conditions set forth in the May

1979 report or through any further EABreview.

The first Bush administration did notsupport re-establishing an EAB, thusextending a 12-year lapse in a federalmechanism for the review of controver-sial research protocols. This status con-tinued until 1993, when the NIH Revi-talization Act effectively ended the defacto moratorium on IVF and other typesof research involving human embryosby nullifying the regulatory provisionthat mandated EAB review.

NIH’s Human Embryo Research PanelAs the Revitalization Act of 1993 ef-

fectively ended the de facto moratoriumon IVF and other types of research in-volving human embryos, the then NIHDirector Harold Varmus convened aHuman Embryo Research Panel (HERP)to develop standards for determiningwhich projects could be funded ethicallyand which were “unacceptable for fed-eral funding.”

The panel of scientists, ethicists, legalscholars and lay representatives workedin an environment of heightened scru-tiny by the anti-abortion lobby. TheHERP submitted its report to the Advi-sory Committee to the NIH Director(ACD) in September 1994; included wasa controversial recommendation that,under certain conditions, embryos couldbe created for research purposes.

Acting on this submission, the ACDformally approved the Panel’s recom-mendations (including provision for thedeliberate creation of research embryos).President Bill Clinton intervened toclarify his earlier endorsement of em-bryo research, stating that “I do not be-lieve that federal funds should be usedto support the creation of human em-bryos for research purposes, and I havedirected that NIH not allocate any re-sources for such requests.”

Director Varmus proceeded immedi-ately to implement those HERP recom-mendations not proscribed by thePresident’s clarification, concluding thatNIH could begin to fund research activi-ties involving “surplus” embryos. Beforeany funding decisions could be made,however, Congress took the opportunityafforded by the DHHS appropriationsprocess to stipulate that any activity in-volving the creation, destruction or ex-posure to risk of injury or death to hu-man embryos for research purposes maynot be supported with federal funds

under any circumstances. Additionallegislative riders have been inserted intosubsequent annual DHHS appropriat-ing statutes, enacting identically wordedprovisions into law. Thus, to date, no fed-eral funds have been used for researchthat directly involves the deliberate cre-ation or destruction of a human embryo.This issue would resurface in 1998 whenthe issue of human embryonic stem cellswas addressed by NBAC (see page 13).

Human Fetal Tissue TransplantationResearch Panel

During the 1980’s, DHHS was grap-pling with another related and contro-versial issue. In 1988, Assistant SecretaryRobert Windom requested that NIH con-vene a panel to advise him about thetechnical stakes and ethical implicationsof the use of fetal tissue in transplanta-tion research funded by the federal gov-ernment, specifically whether the moralissues surrounding the source of suchtissue (elective abortions) could ethicallybe separated from the use to which suchtissue is put (e.g., treatment ofParkinson’s disease or diabetes). Themajority of the appointed panel was infavor of permitting such research as longas three conditions were met in additionto IRB approval: (1) the decision to do-nate tissue was kept separate from andmade only after the decision to abort; (2)the process for abortion was not alteredin any way; and (3) the informed con-sent of both parents was obtained incases when the fathers could be con-tacted. Panel members voted 19-2 to rec-ommend continued funding for fetal tis-sue transplantation research underguidelines designed to ensure the ethi-cal integrity of any experimental proce-dures. In November 1989, after the tran-sition from the Reagan to the Bush ad-ministration, DHHS Secretary LouisSullivan extended the moratorium in-definitely, based on the position takenby the minority-voting panel membersthat fetal tissue transplantation researchwould increase the incidence of electiveabortion. Attempts by Congress to over-ride the Secretary’s decision were notenacted into law or were vetoed by Presi-dent Bush.

In October 1992, a consortium of dis-ease advocacy organizations filed suitagainst Secretary Sullivan, alleging thatthe Hyde Amendment (banning federalfunding of abortion) did not apply toresearch or transplantation involving

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fetal tissue. The suit was preempted onJanuary 22, 1993, when newly inaugu-rated President Bill Clinton shifted na-tional biomedical policy and directedDHHS Secretary Donna Shalala to re-move the ban on federal funding forhuman fetal tissue transplantation re-search. In March 1993, NIH publishedinterim guidelines for research involv-ing human fetal tissue transplantation.Provisions to legislate these safeguardswere promptly proposed in Congressand included in the NIH RevitalizationAct of 1993, which President Clintonsigned into law on June 10, 1993.

The National Bioethics AdvisoryCommission

The National Bioethics AdvisoryCommission (NBAC) was established byPresident Clinton in 1995 to provide ad-vice and make recommendations con-cerning bioethical issues arising in thecontext of government research pro-grams. Four months into its existenceand within days of the published reportof Dolly, the cloned sheep, PresidentClinton instituted a ban on federal fund-ing related to attempts to clone humanbeings. In addition, the President askedNBAC to address within 90 days theethical and legal issues surrounding thesubject of human cloning.

NBAC responded that, while the cre-ation of embryos for research purposesalone always raises serious ethical ques-tions, the use of somatic cell nucleartransfer to create embryos for researchpurposes raises no new issues. However,the unique and distinctive ethical issuesraised by the use of somatic cell nucleartransfer to create children do raise newconcerns, for example, serious safety is-sues, individuality, family integrity, andtreating children as objects. The Com-mission concluded that the use of thistechnique to create a child would be apremature experiment that would ex-pose the fetus and the developing childto unacceptable risks, which in itselfmight be sufficient to justify a prohibi-tion on cloning human beings at thistime, even if such efforts were to be char-acterized as the exercise of a fundamen-tal right to attempt to procreate.

The Commission suggested that, in or-der to allow a further national discussionto take place, a period of time should beimposed during which no attempt is

made to create a child using somatic cellnuclear transfer. NBAC made an imme-diate request to all firms, clinicians, in-vestigators and professional societies inthe private and non-federally-fundedsectors to comply voluntarily with theintent of the federal moratorium.

NBAC further recommended thatfederal legislation be enacted to prohibitanyone from attempting, whether in aresearch or clinical setting, to create achild through somatic cell nuclear trans-fer cloning and that any regulatory orlegislative actions undertaken to effectthe foregoing prohibition should be care-fully written so as not to interfere withother important areas of scientific re-search. Despite several efforts in bothchambers to legislate a ban on humancloning to produce a child, no laws havebeen passed, in part because of the in-ability of Congress to disentangle humancloning for reproductive purposes fromcloning to derive embryonic stem (ES)cells for the purpose of research.

NBAC’s Stem Cell ReportScientific reports of the successful iso-

lation and culture of ES cells and embry-onic germ (EG) cells renewed the long-standing controversy about the ethics ofresearch involving human embryos andcadaveric fetal material. Again, PresidentClinton turned to NBAC for guidanceabout the promise of these research de-velopments as well as the ethical con-cerns. The Commission reiterated itsprevious position and re-emphasizedthat, at the current time, federal fundsneed not be used for such research. ThePresident also asked NBAC to provideadvice on the creation of human/non-human chimeras using somatic cellnuclear transfer, which would raiseunique concerns.

NBAC stopped short of endorsing theuse of somatic cell nuclear transfer tocreate an embryo for the purposes ofderiving stem cells. Instead, it recom-mended that “at this time” federal fund-ing for the use and derivation of ES andEG cells should be limited to two sourcesof such material: cadaveric fetal tissueand embryos remaining after infertilitytreatments. The Commission left openthe possibility that these sources mightprove insufficient and that the need forcloning to derive superior cell linesshould be revisited after sufficient sci-entific work has been conducted to jus-tify that further step.

In the background, a federal policywas already being crafted. When thequestion arose of whether to providefederal funding for human ES cell re-search using IVF embryos remainingfrom infertility treatments, the DHHSgeneral counsel, Harriet Rabb, reportedto the NIH director, Varmus, that the pro-hibition in the current appropriationsrider did not prevent NIH from support-ing research that uses ES cells derivedfrom such a source because the cellsthemselves do not meet the statutory,medical or biological definition of a hu-man embryo.

Having concluded that NIH mayfund internal and external research thatutilizes ES cells but does not create oractively destroy human embryos, NIHdelayed actual funding until an Ad HocWorking Group developed guidelinesfor the conduct of ethical research in thisarea. But time ran out. Before any grantscould be funded, the infamous 2000 elec-tion results produced a new administra-tion, and therefore new policies. In Au-gust 2001, President George W. Bushannounced that NIH could fund re-search using ES cells, but only if the lineshad been derived prior to that date; thusthe federal government could not be con-sidered complicit in the destruction ofthe embryos.

President’s Council on BioethicsAt the end of the Clinton Administra-

tion, the charter for NBAC was allowedto expire in anticipation that the nextPresident, whoever he might be, wouldwant his own set of advisors and mostlikely a different charter. In November2001, President George W. Bush nameda new body, called the President’s Coun-cil on Bioethics (PCB). The charter of the18-member Council allows it to considera range of bioethical matters connectedwith specific biomedical and technologi-cal activities, such as embryo and stemcell research, assisted reproduction, clon-ing, uses of knowledge and techniquesderived from human genetics or the neu-rosciences, and end-of-life issues.

In its first report, Human Cloning andHuman Dignity: An Ethical Inquiry, tenmembers of the PCB recommended afour-year moratorium on “cloning-for-biomedical-research.” They also calledfor “a federal review of current and pro-jected practices of human embryo re-search, pre-implantation genetic diagno-sis, genetic modification of human em-

14

Barth Syndrome—Responding to a Genetic Disorder


had been successful with the one livingboy mentioned in the article who wecould calculate would be older than ourson. A kind response came back: “I agreethat your patient may have the dis-ease.…” And then, “We regret that [thepatient you asked about] died quite sud-denly and unexpectedly while playingat home at the age of five.” That one ex-tended family had lost more than 20 sons,brothers, nephews and uncles over sev-eral generations to this disorder that wasbeginning to be called Barth syndrome.It was difficult to hear. For us, the goodnews was that Will’s tentative diagnosishad been corroborated. The bad newswas that our son might well be amongthe oldest living children with the con-dition, and the future did not seem at allbright. And that was all we knew.

With the caring treatment of his dedi-cated group of physicians, Will’s condi-tion improved and he came home. Webegan making regular follow-up trips todoctors’ offices and endured several ad-ditional hospitalizations during the nextfew months. Because his disorder was sorare, no one was an expert. Will’s carewas centralized in one hospital, but webegan to seek advice about the variousaspects of Barth syndrome from special-ists interested in complicated, unusualcases. These people were not located inany single facility or city. I counted re-cently that, during his lifetime, Will hasseen physicians in 22 different medicalspecialties associated with 19 institutions.

It quickly became apparent that, be-side Will, I was the only person who at-tended every appointment and was thelone keeper of his complete medical files.I became “command central” in manyways. There were times when I orga-nized conference calls among his variousdoctors. I learned to request a copy ofeach test result and every office visit sum-mary. I asked a lot of questions andbought a medical dictionary to help meunderstand what was said. Over time,my questions became more enlightened,and I became my son’s primary advo-cate. My dedication, growing knowledgeand easy access to all of his medicalrecords gave me increasing credibilitywith his doctors. I learned the importanceof mutual respect, and I gently but firmlyestablished my own active role.

Will’s disorder was rare—so rare thatfew physicians had ever heard of it be-

fore. Whenever he saw a new specialist,I took a copy of Dr. Barth’s article to giveto him/her. I usually knew more aboutthe condition than the specialist did.Early on, Barth syndrome was not evenlisted in the National Organization forRare Disorders (NORD) desk reference.And no one—not physicians, and cer-tainly not our friends or family—knewof another patient with Barth syndrome.For 11 years, we became increasinglyconvinced that Will was the oldest liv-ing child with Barth syndrome. And Dr.Barth’s experience with the family heknew in the Netherlands did not leavemuch room for optimism. Will continuedto be monitored closely for his cardiomy-opathy. He attended regular school anddid many regular things, but his fluctu-ating immune system and his weakmuscles made living a completely “nor-mal” life difficult.

Advocacy: From Personal to PublicOver the years, we tried to find more

information about Barth syndrome on theinternet, but always with little success.Then, in November 1999, Will entered thewords “Barth syndrome” into a searchengine we had never used before, and thenames and email addresses of threewomen appeared on the screen. Will wasbeside himself with excitement. My hus-band and I were elated, too, although wewere leery of who these people might be.Were they researchers, salespeople, phy-sicians, relatives of patients?

With our approval, Will contactedthem. Within 24 hours, he received fiveemails—one from each of the womenand two from their sons who had Barthsyndrome. It was just before Thanksgiv-ing; the internet had given us a gift forwhich we all will be eternally grateful.We later learned that these three moth-ers—Shelley, Sue and Anna—also hadbeen searching the internet for someoneelse, anyone else, affected by Barth syn-drome; they had found each other. Withthe help of Dr. Richard Kelley of JohnsHopkins and a very small budget do-nated by a loving grandmother, theywere planning the first internationalmeeting for Barth families and physi-cians to be held June 2000 in Baltimore,Maryland. It had long been a dream ofWill’s to meet another boy with Barthsyndrome. We had to go.

Much could be written about thatweekend. The desire to meet othersstruggling with the same problem

proved to be a very powerful incentive,and 28 families from four continents didwhatever they had to do to be at thatmeeting—be it raising funds through carwashes and local charities, driving 1200miles or flying halfway around the worldwith a child whose health was precari-ous. There were endless discoveriesmade on every level. We all learned thepower of sharing—not only tears andlaughter, but also information. The boyswere amazingly similar in numerousways. The presence of so many grand-parents with stories of boys lost in ear-lier generations made us all appreciatethat our problems were not really new.We were beginning to understand theimplications of a genetic disorder, to ap-preciate the strength that comes fromcommunity, to value the knowledge thateach of us had to offer and to recognizethe power of that knowledge when takentogether. By the end of the weekend, weall knew that this had to be the begin-ning, not the end.

We needed an official organization. Wewould continue to rely on the internet tobe the functional glue that would holdus together across thousands of miles,many time zones and numerous lan-guages. After all, that was the only pos-sible way we all could have first met. Theinternet had changed our lives, as it hasso many others in similar situations. Myhusband and I volunteered to join theoriginal three mothers to create a501(c)(3) foundation to increase aware-ness among physicians, find and shareinformation with more families and en-courage research. We had no idea, really,what we were getting into, but we knewthat we were dedicated to “saving livesthrough education, advances in treat-ment and pursuit of a cure”—and that iswhat counted.

My husband and I used our manage-ment training and sought the help of ourfriends and business colleagues to helpfigure out how to go about creating thenonprofit organization that we now callthe Barth Syndrome Foundation, Inc.(BSF). We knew we could learn a greatdeal from other successful rare disorderfoundations, and we received some guid-ance from the Genetic Alliance(www.geneticalliance.org) in identifyingthem. The five of us contacted every oneof the foundations to find out what theyhad learned, what they had done rightand what had not worked. One of ourmost important observations was that


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We need to adjust the number,to take things like diabetes,weight or race into account.”

The genetic counselor explained the ma-ternal serum screen to the patient andthe student intern had to bite his tongue.“Race,” as she was using the term, is, inour opinion, completely misleading, asis the term “black.” In the American con-text, or to be more provincial yet, in theofficial U.S. context, “race” refers prin-cipally to European-Americans, African-Americans, Asian-Americans, NativeAmericans and Pacific Islanders. Theterm “black,” on the other hand, becauseit is acceptable in a social context, hasbecome synonymous with African-Americans and continues to be used,even among genetics professionals whoshould know better. In practice, thismeans that, in the American context,someone from the Solomon Islands orNew Guinea would be lumped togetherwith African-Americans as “black,”solely on the basis of dark skin tone.However, in genetic terms, the assump-tion that dark-skinned people are simi-lar, regardless of the geographical areaof their family origin, is, at a minimum,imprecise.

Racial classifications have long beensuspect, at least since Darwin’s ideas be-gan to take hold. Taxonomists have comeup with various schemes defining any-where from 3 to 60 distinct races. Thedepth of classification is completely arbi-trary and, therefore, the predictive valueof these taxonomies is mediocre at best.

For a long time, genetics profession-als have accepted that genetic differenceswithin any assigned group are largerthan those between different groups. Fur-ther, as people all over the world becomeincreasingly mobile, isolated popula-tions are fast dying out. Mixing of genepools is occurring at increasing rates, afactor that is having an impact on thevalue of even ethnicity as a predictor ofgenetic predisposition. The questionthen: can genetics professionals continueto use race as a basis for identifying ge-netic similarities or differences betweenpopulations?

Race and Genetics: Not aMatter of Black and WhiteBy Peter Thom andSharmila Padukone

Racial classification is by no meansuniformly applied by medical and alliedprofessionals. Splitting is limited to spe-cific groups, while lumping is appliedto others.

Consider the Europeans. When genet-ics professionals refer to European-Americans, the tendency is to split: i.e.,to accept that there are known geneticdifferences between present-day North-ern Europeans and Southern Europeansin terms of, among other things, suscep-tibility to various diseases. Italian-Ameri-cans and Greek-Americans, for example,are known to have greater susceptibilityto thalassemias and have a different ar-ray of mutations for diseases commonamong Northern Europeans, such as cys-tic fibrosis. When counseling Americanswith a European background, ethnicityis therefore always taken into account,and the concept of race is a secondaryconsideration, if at all.

Now consider what happens in thecase of people of non-European origin.When the genetic makeup of African-Americans is discussed, all people (i.e.,all people who are, for want of a moresuitable word, “black”) are lumped to-gether. There are a number of very obvi-ous problems with this sort of grouping:The vast territory of origin of African-Americans (Africa, far larger than theEuropean landmass) is likely to havedeveloped more, not less, genetic varia-tion. Here, we must acknowledge thatthe great majority of African-Americanshas lost the history of its ancestry, butthat should in no way prevent geneticsprofessionals from beginning to delin-eate present-day differences betweenpeople from various parts of Africa andapplying that knowledge to African-Americans.

Asian-Americans face even morecomplex issues. Not only are Asian-Americans also lumped together regard-less of whether they are of Chinese orJapanese or Nepali descent, but thepeople of South Asian descent are fre-quently ignored altogether! Thus, peopleof Indian, Pakistani or Sri Lankan de-scent are often not considered as a sepa-rate group at all, or are lumped togetherwith the East Asians. Asia is the largestof the continents and contains more than

half the world’s population. Need morebe said with regard to the possibilitiesof genetic diversity?

When one remembers that there is agradual but long overdue awareness ofthe increased dangers of elevated choles-terol and cardiac disease in the people ofSouth Asian origin, the dangers of ignor-ing such ethnic diversity become glar-ingly apparent. How many more suchconditions must be slipping through thecracks, and the unfortunate patients withthem, even as you read this article?

There is a major problem, too, withaccepting self-definitions of race. A self-professed African-American, for ex-ample, is statistically likely to be a prod-uct of an admixture of European andAfrican genetic roots. The average Afri-can-American has a genetic contributionfrom Western Africa of 80%, but therange is anywhere from 20% to 100%.Nonetheless, due to the dominance ofgenes which express dark skin, that per-son will most often proclaim exclusiveAfrican ancestry. It is necessary, therefore,to probe beneath the surface of racial self-identification, beneath the skin, as itwere. Perhaps the patient had a Germangrandmother who passed along a muta-tion for cystic fibrosis. Unless specificallyteased out, this would remain hidden bythe inaccurate self-identification. ManyAfrican-Americans, who could be carri-ers of diseases with a high frequencyamong their European ancestry, will beill served unless the history of miscege-nation is taken into account.

We would make a special plea to ge-netics professionals, indeed all medicalprofessionals, to stop using the word“black” altogether. In fact, the disposalof the term “race” itself, along with allits connotations, is long overdue. Lump-ing people together by virtue of theirskin color is not only misleading anddisingenuous but also demeaning, espe-cially coming from a group of profes-sionals who should know better. Howlong will it be before these words areerased from our medical lexicon? A re-cent presentation downloaded from theNational Society of Genetic Counselorsreferred to corrections in serum screen-ing results that must be made for“blacks.” We rest our case. ■

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they were much more than just supportgroups. They had a positive vision of thefuture, and articulated goals and pro-grams to address their problems. Theywere credible advocates for their causes.Our newly formed Board of Directors metin one member’s kitchen to create ourmission, vision and goals. We started byputting one foot in front of the next. Weall agreed that, whatever we did, it wouldbe with the highest level of professional-ism possible. BSF was incorporated in thefall of 2000 and became an official non-profit organization in January 2001.

So far, we have been amazingly suc-cessful, and we are extremely grateful forour good fortune. We have published fivesignificant, professional-looking newslet-ters with a distribution that now exceeds3,000 contributors, patients, families, phy-sicians and scientists. We have built aninformation-laden website (www.barthsyndrome.org) and manage severallistserves, which are our daily lifelines.We have just hosted our third interna-tional Barth Scientific/Medical and Fam-ily Conference, which drew almost 250family members, physicians and re-searchers and the largest group of af-fected individuals ever assembled. Wehave attracted a world-class Scientific andMedical Advisory Board and regularlyattend scientific conferences, using ourbooth to distribute information to cardi-ologists, hematologists, neurologists, ge-neticists and pediatricians. And we re-cently have awarded our tenth researchgrant. This year, two international affili-ates have been formed in Canada and theUnited Kingdom. These achievementshave been possible through the $1.3 mil-lion we have raised and a great deal ofdedicated hard work on the part of vol-unteers. We have held fundraisers, writ-ten grants and found some generoussponsors. The positive momentum thatcan be created through the coming to-gether of many different forces and re-sources is powerful. We try never to leavea stone unturned.

Although we have added Board mem-bers and gained helpers, we continue tobe an all-volunteer organization, with themanagement still performed solely byBarth family members, at least to date.We are growing and evolving, but we feelthat one of the limitations on what we cando is our ability to find enough volun-teers to run all of the programs we would

like to create. Our Board will never stopworking hard but is in constant dangerof burning out; we know that this prob-lem is typical. The wonderful thing ishow broad our support is and how manyvolunteers we do have. And we marvelat how much help in various forms wereceive from established institutions, in-cluding the National Institutes of Health(NIH), the American Heart Association,other disease groups and several largefoundations. In every case, I believe it isbecause we continue to take seriously afew basic principles. We maintain highstandards and do our homework in ad-vance. We are a serious, professional or-ganization run by people who do it as alabor of love. That is a powerful motivat-ing force. BSF has become a credible ad-vocate for our cause—just as we firstlearned to be for our own children.

Looking AheadWill is now 18 and a junior in high

school. The nurses in the PICU know himby name because of his periodic admis-sions. In the past six months alone, he

has had an internal defibrillator im-planted to guard against life-threateningarrhythmias, survived a blood clot in hisheart and had a gastrostomy so that afeeding tube could be placed. Adoles-cence can be a very difficult period medi-cally for boys with Barth syndrome…and so the fight goes on. But he contin-ues to face his many adversities withcourage, a positive attitude and even asense of humor. He has become a remark-able young man. We now know that heis not the oldest living Barth patient, andwe see scientific advancements (due inlarge part to BSF) being made that weexpect will make a difference to his fu-ture. There are many more hurdles toovercome and dangers to conquer, butthere are reasons to be cautiously hope-ful, not just for him but for all Barthboys.

Kate McCurdy, a founding Board member ofthe BSF, serves as its Vice President of Sci-ence and Medicine. She has an MBA fromHarvard and worked in the corporate worldbefore her son was born.

Barth syndrome is a rare but serious, x-linked genetic disorder predomi-

nantly affecting males. It results from a mutation in the G4.5 gene (also called

TAZ1) located at the distal end of Xq28. The cardinal clinical characteristics,

which can appear in varying degrees, are:

• Cardiomyopathy (frequently dilated)

• Neutropenia (chronic, cyclic or intermittent)

• Muscle hypoplasia and weakness

• Exercise intolerance

• Growth retardation (can appear as Failure to Thrive)

• 3-Methyl-GlutaconicAciduria

There is strong evidence that this disorder is not as rare as the initial statistics

indicate. Many cases of this complex, multi-system disorder are mislabeled,

with just a portion of the full syndrome being recognized.

But early full diagnosis is a key to survival. Preliminary data show that a boy

whose diagnosis is missed has only a 30% chance of living to the age of four.

With proper diagnosis at an early age, however, a child has an 85-90% chance

of long-term survival.*

Several diagnostic laboratory tests are available. Further details regarding

diagnosis criteria can be found at http://www.barthsyndrome.org/

diagnose_barth_syndrome.html

•Source: The Barth Syndrome Foundation, Inc.

(Editors’ note: X-linked diseases result from mutations on the X chromosome. A female inherits

two X chromosomes, one from each parent, and can usually produce sufficient normal gene prod-

uct, even with one mutated X chromosome, to be less affected or unaffected. A boy, however,

inherits only one X chromosome, always from his mother, so, if his mother is a carrier, then he will

be affected.)

WHAT IS BARTH SYNDROME?

Barth Syndrome—Responding to a Genetic DisorderContinued from page 14

■

17

I have a conflict about describing thecurrent federal rules and regulationsrelated to genetic privacy. As an ana-

lyst in the executive branch of the fed-eral government, do I tread lightlyaround a politically charged issue, or, asa health advocate, do I present a glimpseinto the veiled world of regulatorydoublespeak? Any reasonable civil ser-vant working in governmental regula-tory affairs comes to understand that thefederal encyclopedia of law merely ad-vises and rarely mandates. Federal enti-ties are implicitly aware of their limitedauthority with respect to rule and regu-lation—the impunity of each state’s sov-ereign right to rule its citizens. With thatsaid…

A commentary found in an articleabout the Genetic Privacy Act offers astunning metaphor on the need for ge-netic protection:

The highly personal nature of the infor-mation contained in DNA can be illustratedby thinking of DNA as containing anindividual’s “future diary.” A diary is perhapsthe most personal and private document aperson can create. It contains a person’s in-nermost thoughts and perceptions, and isusually hidden and locked to assure its se-crecy. Diaries describe the past. The informa-tion in one’s genetic code can be thought ofas a coded probabilistic future diary becauseit describes an important part of a unique andpersonal future. (Annas & Elias, 1992).

Although genetics legislation hasbeen in place in a few states since the1970’s, it was not until the 1990’s, in anenvironment of increasing scholarly andmedia attention to genetic discrimina-tion, that genetics statutes began to ex-pand in scope and number. Initial genet-ics legislation was narrow, focusing pri-marily on genetic information associatedwith specific diseases. In the 1990’s,states began to enact more sweepinglaws. Responding to pressures from con-stituents and the scientific community,the federal government approachedpolicy on an incremental level. In onesense, federal policy has begun to mimicthe states’ policy in that the protectedgenetic information is not disease spe-cific but encompasses more general re-quirements. The next section describes

Genetic Privacy:What’s Happening at the Federal Level?By Pat Banta a federal effort toward genetic privacy

in this arena of general requirements.

Federal Law Pertaining to GeneticInformation Protection

The Health Insurance Portability andAccountability Act of 1996 (HIPAA),amends the Employee Retirement In-come Security Act (ERISA), the PublicHealth Service Act (PHSA) and the In-ternal Revenue Code (IRC) to prohibithealth discrimination on the basis of ge-netic information or services. Enforce-ment powers come through the EqualEmployment Opportunity Commission(EEOC). HIPAA also requires the Secre-tary of the Department of Health andHuman Services (DHHS) to developpolicy recommendations and standardsfor protecting the privacy of individu-ally identifiable health information frominappropriate use and disclosure. How-ever, HIPAA does not specify what thosestandards should be or in what way theyshould address genetic information. TheSecretary’s resulting Privacy Rule, whichcame into effect on April 14, 2003, makesrecommendations to treat genetic infor-mation as all other protected health in-formation. The Privacy Rule does notpreempt a state law if it is more strin-gent. There are many state laws that pre-vail over the Privacy Rule.

For health insurance in the groupmarket, HIPAA does:

• Prohibit excluding an individualfrom group coverage because of past orpresent medical problems, includinggenetic information.

• Prohibit charging a higher premiumto an individual as compared to othersin the group.

• Limit exclusions from group healthplans for pre-existing conditions to 12months, and prohibit such exclusions ifthe individual has been previously cov-ered for that condition for 12 months ormore.

• State explicitly that genetic infor-mation in the absence of a current diag-nosis of illness shall not be considered apreexisting condition.

HIPAA does not:• Prohibit the use of genetic informa-

tion as a basis for charging a group ad-

ditionally for health insurance.• Limit the collection of genetic in-

formation by insurers or prohibit insur-ers from requiring an individual to takea genetic test.

• Limit the disclosure of genetic in-formation by insurers.

• Apply to individual health insur-ers except if covered by the portabilityprovision.

On October 14, 2003, the 108th Con-gress passed the Genetics InformationNondiscrimination Act (S.1053). Thisstatute becomes effective in April 2005,18 months after its enactment. As inHIPAA, this law will only address ge-netic discrimination as it relates to anindividual’s ability to obtain health in-surance or employment. S.1053 is di-vided into two sections, one focusing ongenetic discrimination in healthcareplans and coverage and the other focus-ing on the employment process. Bothsections of the bill define genetic infor-mation as: (1) the genetic test of an indi-vidual; (2) the genetic tests of familymembers of the individual; (3) the oc-currence of a disease or disorder in fam-ily members of the individual. The term“genetic information” does not includeinformation on the gender or age of theindividual. For human resources profes-sionals in the higher education commu-nity, both the healthcare and employ-ment sections of the bill will affect theadministration of these areas.

Selected Legislation in the 108th Con-gress 1st and 2nd Session

The Patient Safety and Quality Im-provement Act (H.R. 663, S. 720) amendsthe Public Health Service Act to makepatient safety data privileged and confi-dential. The House version of the billdefines “patient safety work product” asa record concerning patient informationeither reported to a patient safety orga-nization by a healthcare provider (doc-tor, hospital, etc.) or created by a patientsafety organization. In addition, it de-fines a “patient safety organization” asan organization that collects such infor-mation with the goal of improving pa-tient safety and the quality of healthcaredelivery. The House adopted the act andordered it reported to the Senate Com-


18

Last February 19, Diane Paul, a re-cently retired professor of politi-cal science at the University of

Massachusetts-Boston, visited SarahLawrence College. During a whirlwindday, she gave a presentation to the Sci-ence Seminar, “What is Wrong with Eu-genics?”; conducted a HGP ethics semi-nar on newborn screening for phenylke-tonuria (PKU); and participated in a HAPclass. Paul’s work combines public policywith the sociology of science and moralphilosophy. As she became interested ingenetics, she returned to school herselfto become better educated in the biologi-cal sciences and genomics. She has writ-ten two books, Controlling Human Hered-ity: 1865 to the Present and The Politics ofHeredity: Essays on Eugenics, Biomedicine,and the Nature-Nurture Debate; has editedone book, Thinking about Evolution: His-torical, Philosophical, and Political Perspec-tives; and has authored more than 100other publications.

Eugenics itself is a term with a heavilycontested definition, one that has takenon different meanings in different eras.Today, the word can evoke stories ofNazi Germany, Aldous Huxley’s BraveNew World, racial and/or class prejudice,negative attitudes toward people withdisabilities and violation of the principleof respect for autonomy. Paul’s work onthe history of eugenics policy remindsus that well-known and very highly re-garded scientists, including LinusPauling, supported eugenics policiesthat would “improve” the human race.It is important to recognize that ques-tions raised by the eugenics movementsin the past remain significant in today’sdebate about the choices available in re-productive genetics. Paul notes that, al-though the word “eugenics” is generallyshunned in contemporary society,“…many practices that would presump-tively constitute eugenics, such as lawsbarring marriages between first cousins,are applauded. So I think we tend toapply the label to policies/practices/ideas we detest, and withhold it fromthose we approve.”

Paul’s recent research includes an ex-ploration of the ways in which the his-tory of eugenics figures in current de-

Eugenics, Reprogenetics and NewbornScreening: A Valuable Day of DiscussionBy Erin M. Carter bates over reproductive genetics. In the

mid 1990’s, the term “reprogenetics” wascoined to classify the variety of genetictechniques used to alter or control thereproductive process (Silver, 1997).Reprogenetic technologies allow us totreat infertility and strive toward theelimination of preventable genetic dis-eases, such as cystic fibrosis, sickle cellanemia, and PKU. However, repro-genetics is also the science behind so-called “designer babies.”

Findings of genetic research appear inthe news on a daily basis. Often, researchbreakthroughs have immediate ethicalramifications, and the public is unpre-pared for the outcomes. It is true that re-markable advances in science and tech-nology are leading to a reconsiderationof long-held ideas regarding parent-hood, childhood and the meaning of life.Paul does not think it is possible to talkof a “public” attitude toward repro-genetics: “Even if we substituted a termlike ‘reproductive genetic technology’ or‘genetic technology’…I think there aremany different publics, with very differ-ent orientations.”

Paul is currently writing a policy-ori-ented history of newborn screening formetabolic disorders, such as PKU. Shespent the afternoon of her visit speak-ing with Human Genetics students re-garding some of the complexities of PKU

screening. “[Newborn screening] is aspringboard to discuss an array of bio-ethical and policy issues in genetic test-ing,” she says, “including debates overthe value of informed consent and theintersecting roles played by a ‘techno-logical imperative,’ commercial interestsand parent and patient advocacy groupsin driving the expansion of screening.”

Newborn screening began in Buffalo,New York, in 1960, with the inventionof a cheap and simple blood test for PKU,a rare genetic condition that negativelyaffects the body’s ability to break downphenylalanine, an essential amino acidfound in nearly all foods. Withouttherapy, a person with PKU accumulateshigh levels of phenylalanine in the body,resulting in severe mental retardationand behavior problems. If detected early,symptoms of PKU can be prevented bylifelong adherence to a diet restricted tophenylalanine-free food.

PKU screening is now identified as theprototype of a successful screening pro-gram, but Paul’s analysis finds evenPKU screening to have a more compli-cated outcome. Pregnant women withPKU may have impaired intellectual ca-pabilities as a result of not following therestrictive diet, thereby also impairingtheir ability to give informed consent


The Program in Narrative Medicine at Columbia College of Physicians and Surgeons

Presents

“Suffering, Storytelling, and Community”

Thursday, October 7

Columbia University Medical Center

Plenary Lecture, John Stone, 1:00 – 2:00 p.m.

John Stone, MD, is Professor of Medicine Emeritus at Emory University School of Medicine, where he was also

Director of Admissions and Associate Dean for 19 years. The author of four poetry volumes and an essay collection,

In the Country of Hearts: Journeys in the Art of Medicine, he is also co-editor of On Doctoring. His most recent book

is Music from Apartment 8: New and Selected Poems.

Workshops (leaders to be announced), 2:30 – 4:30 p.m.

Narrative Medicine Rounds and Reception, Arthur Frank, 5:00 – 6:30 p.m.

Arthur Frank, PhD., Professor of Sociology, University of Calgary, is the author of The Wounded Storyteller, At the Will

of the Body: Reflections on Illness and of the recently published The Renewal Of Generosity: Illness, Medicine, and

How to Live.

Free and open to the public. Same-day conference and workshop registration. For more infor-

mation, call (212) 305-4975. For directions, please visit http://cumc.columbia.edu/hs/map.html.

This event is made possible by the generous support of the New York Council for the Humani-

ties, a state affiliate of the National Endowment for the Humanities.

Co-sponsored by the Health Advocacy Program at Sarah Lawrence College.

19

Medicine is focusing increasingly onthe genetic components of disease andof personal risk for complex disorders.Across the multiple sectors of ourhealthcare system, more and more re-sources are devoted to genetic issues,from mass screening for genetic diseaseto extensive research on the human ge-nome to ever-more-elaborate forms ofprenatal intervention. Media attention onissues ranging from how to protect theprivacy of genetic information towhether it is appropriate to use technol-ogy to create “designer babies” hasbrought complex policy issues into thepublic arena. In short, the future of healthcare is intimately connected to genomicmedicine, and the future of genetics isinextricably linked to a series of complexethical, social and legal issues calling outfor professional advocacy. The time for“Genetic Health Advocates” has neverbeen riper.

Sarah Lawrence is proud to respondto the social need for professionals edu-cated broadly across the fields of humangenetics and health advocacy by offer-ing a dual degree. This three-year pro-gram leads to a double master’s, MA(from the Health Advocacy Program,HAP) and MS (from the Human Genet-ics Program, HGP). By blending cur-ricula from the two programs, the dualdegree offers students the opportunity tobuild a unique complement of knowl-edge, skills and competencies. TheHGP’s scientific rigor, extensive focus oninterpersonal communication and sensi-tivity to psychosocial issues is wellcomplemented by the HAP’s attention tosocial, political and historical context,individual and collective rights, con-struction of knowledge, and the range ofadvocacy models and roles. Since facultyteaching in the areas of illness narratives,ethics and evaluation/assessment al-ready bridges the two programs, theseareas of overlap are easily navigated.Lectures, visiting scholars, films andother co-curricular offerings are alsojointly coordinated, benefiting all stu-dents in each program as well as dual-degree enrollees. In typical SarahLawrence style, the three-year programis custom designed—in terms of sched-ules, internships/placements and se-quence of courses—to accommodate the

Genetics and Health Advocacy: A DualDegree for 21st Century HealthcareBy Rachel Grob needs of each dual-degree student.

What are dual-degree graduatesequipped to do? We believe they havethe best available preparation to work inpublic sector departments, healthcaresettings, research institutions, not-for-profit organizations and industry, ad-dressing a wide range of social and ethi-cal issues such as:

• How can research agendas beshaped to expand knowledge while, atthe same time, protecting human subjectsand providing adequate support forstudy participants?

• How can individual and collectivepatient’s rights best be protected—bothin the United States and internationally—in an era of expanded genetic screeningand testing? How can freedom of choiceand access to information and counsel-ing be preserved in the face of broad-based screening programs?

• How can an understanding of en-vironmental and social factors in diseasecausation be balanced with an increas-ingly powerful analysis of genetic cau-sation?

• How can debate about the uses ofgenetic science and information be fos-tered across broad segments of the popu-lation, and how can decision-makingabout the use of genetics in society bedemocratized?

• How can the gaps between expertand lay knowledge of genetics bebridged, and how can issues of race,ethnicity and culture be adequately ad-dressed within the field of genetic coun-seling and beyond?

To Meg Howard’s rallying cry “Ad-

Autism: Piecing the Puzzle—TogetherContinued from page 7profiles.nlm.nih.gov/VC/B/B/C/Q/

Verstraeten, T., Davis, R.L., DeStefano et al. (2003).Safety of thimerosal-containing vaccines: a two-phasedstudy of computerized health maintenance organizationdatabases [Electronic version]. Pediatrics, 112(5), 1039-48.

Wakefield, A., Murch, S., Anthony, A. et al. (1998).Ileal-lymphoid-nodular hyperplasia, non-specificcolitis, and pervasive developmental disorder in children[Electronic version]. The Lancet, 351, 637-641.

Waly, M., Olteanu, H., Banerjee, R. et al. (2004).Activation of methionine synthase by insulin-likegrowth factor-1 and dopamine: a target forneurodevelopmental toxins and thimerosal [Electronicversion]. Molecular Psychiatry, 9, 358-370.

Wilson, K., Mills, E., Ross, C., McGowan, J., Jadad,A. (2003). Association of Autistic Spectrum Disorder

and the Measles, Mumps, and Rubella Vaccine: ASystematic Review of Current EpidemiologicalEvidence [Electronic version]. Arch Pediatr AdolescMed., 157, 628-634.

Wing, L. (1997) The autistic spectrum. The Lancet,350, 1761–66.

World Health Organization. (1992) The ICD-10 clas-sification of mental and behavioral disorder: Clinicaldescriptions and diagnostic guideline. Geneva.

World Health Organization. (1993) The ICD-10classification of mental and behavioral disorder: Diag-nostic criteria for research. Geneva.

World Health Organization. Retrieved Sept. 1, 2004from http://www.who.int/mediacentre/news/releases/2004/pr30/en/

Zoghbi, H.Y. (2003). Rett Syndrome and RelatedDisorders. Presentation, IOM Annual Meeting 2003.Retrieved April, 20, 2004 from http://www.iom.edu/file.asp?id=16265

HAP To LaunchConference Series

Through a series of annual con-ferences, the Health Advocacy Pro-gram will bring together advocacygroups from across the spectrum ofdisease-specific and issue-focusedorganizations to address critical is-sues of concern to all health advo-cates, analyze successful models ofadvocacy and forge alliances towork together to promote commongoals. The inaugural conference,scheduled for January 14, 2005 atSarah Lawrence, will be devoted tothe issue of Advocates in Research.This full-day conference will in-clude plenaries and breakout work-shop sessions. Participants will beinvited from a broad range of ad-vocacy groups. The conference willprovide an extraordinary opportu-nity to initiate dialogue among ad-vocates so that we may learn fromeach other and work together toachieve common goals.

vocates and Genetic Counselors, Unite!”we might add the exclamation “GeneticHealth Advocates, Your Time is Here!”We look forward to following the careersof the first dual-degree pioneers, and toattracting additional enrollees interestedin the opportunities and challenges ofGenetic Health Advocacy.

Rachel Grob, HA ’92, is SLC Associate Deanof Graduate Studies and co-teacher of theHAP course Models of Advocacy: Theory andPractice. ■

20

Advocates and Genetic Counselors, Unite!An Internship at The March of Dimes Pregnancy and Newborn Health ResourceCenter Lays the Foundation for Future Genetics Advocacy InitiativesBy Meghan Howard


My recent internship at theMarch of Dimes Pregnancyand Newborn Health Educa-

tion Resource Center gave me an oppor-tunity to act as a link between the medi-cal community and the general public.As an assistant information specialist, Iresearched and responded to emails re-ceived by the Resource Center. Inquir-ies covered a wide array of topics, fromfears about worrisome pregnancy symp-toms to descriptions of very specific ge-netic mutations and questions abouttheir potential phenotypic implications.

Many of these emails exposed majorweaknesses in our healthcare system.First, they drove home the fact that fartoo many people do not have access tohealthcare because they cannot affordinsurance and are ineligible for govern-ment programs such as Medicaid andMedicare. Second, they revealed thatpatients lack relationships with theirhealthcare providers that would allowthem to express their personal concernsor to become appropriately educatedabout their health. Third, recurrent in-quiries about genetics information indi-cated that, despite recent and continu-ing advances in genetic and reproduc-tive science, the average individual re-mains grossly unaware of this technol-ogy and, in many cases, ignorant of evenbasic genetic and reproductive concepts.

Although I had realized previouslythat such problems existed, my intern-ship at the March of Dimes provided adirect connection with individualswhose lives have been negatively im-pacted by them. This experiencestrengthened my conviction that profes-sionals trained in both genetics and ad-vocacy are desperately needed to bridgethe perilously wide gaps that currentlylie between the medical community, leg-islators and the public.

In this article, I will describe threetypes of very poignant emails to which Irepeatedly responded during my timeat the March of Dimes. By identifyingthe unmet needs of the emailers and thendescribing the ways in which the staff atthe Resource Center provides services tothose individuals, I hope to develop ageneral framework from which future

genetic advocacy initiatives may takeshape. Finally, I will comment on mylearning experience at the March ofDimes from the perspective of under-standing some of the more controversialquestions about the place of values andethical perspectives in the work of theadvocate and the counselor.

Helping the UninsuredOne of the most disturbing aspects

about the inadequacies of health insur-ance coverage in the United States is thatmany of the uncovered are pregnantwomen. Despite many states’ efforts toexpand Medicaid eligibility to includelarger numbers of pregnant women orto develop aid programs that specifi-cally target this vulnerable and medi-cally needy group, a frightening num-ber continue to fall through the cracks.

During my time at the Pregnancy andNewborn Resource Center, I learned thatthese unfortunate women come from allwalks of life. Illegal immigrants, the un-employed, working mothers unable toafford adequate insurance, and newlyemployed women whose insurancecompanies cited their pregnancies aspre-existing conditions—all contact theMarch of Dimes requesting assistance tocover the cost of childbearing.

After receiving this type of email, weusually did some research to investigateMedicaid requirements for the state inquestion and identify other types of re-sources (government or privatelyfunded) available to assist pregnantwomen in that state. In situations wheregovernment assistance simply is notavailable to an uninsured pregnantwoman, it is important to find otherways to provide access to prenatal care.Therefore, we always supplied suchwomen with a list of free or low-costhealthcare clinics in their area.

The importance of prenatal care iswell known to those in the field of ge-netics. Women who see a healthcare pro-vider regularly during pregnancy havehealthier babies and are less likely todeliver prematurely and/or have otherserious problems, including infants withbirth defects. Therefore, genetic advo-cates appear to be the perfect profession-als to encourage prenatal care and tofight for all women to have access to it.

Filling Gaps in the Patient-ProviderRelationship

Many of the emails received by theResource Center disclose people’s deep-est fears, concerns and feelings of guilt.Teenagers admit to having had sexualintercourse for the first time, pregnantwomen express guilt over having in-dulged in alcohol or drugs during theirpregnancies and family members de-scribe symptoms that they fear may in-dicate genetic disease.

These are subjects that many indi-viduals are uncomfortable discussingwith anyone. It is not surprising, there-fore, that they often choose to disclosesuch personal information via emailrather than in face-to-face interactions,or even over the phone. However, theinconsistency that most consumers ex-perience with regard to their healthcareproviders can only reduce the likelihoodthat those needing services related topotentially embarrassing subjects willseek treatment or consultation. Worse,they do not often receive any educationon such topics, leading to confusion andfear when personal problems arise.

Unfortunately, many of these emailsinvolve problems that require immedi-ate attention. Although the March ofDimes does not recommend or endorseany specific healthcare providers, weusually replied with a list of nearby hos-pitals or specialists and the suggestionthat the emailer seek medical attentionas soon as possible.

If “genetic advocates” had been avail-able to provide educational services spe-cific to reproductive health and preg-nancy, many of these desperate patientswould have known to seek the medicalattention that they needed much sooner.

Providing Genetic EducationSome of the most common emails re-

ceived at the Resource Center are thoseasking for information on a specific birthdefect or inquiring about other geneticissues. Many of these come from parentsof new babies with recently diagnosedgenetic conditions, others from couplesconsidering pregnancy but concernedabout either inherited familial traits orrisk factors such as maternal age. Weusually responded to these inquiries byproviding basic information about top-

21

Advocates and Genetic Counselors, Unite!


Genetic Privacy: What’s Happening at the Federal LevelContinued from page 17

mittee on Health, Education, Labor andpensions on July 23, 2003. On Novem-ber 17, 2003 it was placed on the Senatelegislative calendar.

This act, should it become law, in-cludes provisions in both the House andSenate versions that have an impact ongenetic privacy. These provisions:

• Require the DHHS to develop oradopt voluntary national standards forpromoting the integration of healthcareinformation technology systems.

• Permit disclosures necessary for theproper management and administrationof the patient safety organization, includ-ing maintenance of a patient’s medicalrecord, in a disciplinary proceeding re-lating to a provider, or as needed by theFood and Drug Administration (FDA)for regulatory purposes.

• Require the HHS Secretary to de-velop or adopt voluntary national stan-dards promoting the integration ofhealthcare information technology sys-tems.

• Require the HHS Secretary to con-tract for and report to Congress on astudy assessing the impact of medicaltechnologies and therapies on patientsafety and benefit, healthcare quality andcosts, as well as productivity growth.

• Amend the Social Security Act todirect the Secretary to appoint a Medi-cal Information Technology Advisory

Board (MITAB) and direct the MITAB tomake recommendations to the Secretaryregarding medical information technol-ogy, including: (1) the best current prac-tices in medical information technologyand (2) methods of implementingrecords security.

The Human Cloning Prohibition Actof 2003 (H.R. 534; S. 245) was adoptedby the House in March 2003 and referredto the Senate Committee on Health, Edu-cation, Labor and Pensions on January29, 2003. If signed into law, it wouldmake cloning a human embryo illegal,ban the importation of a cloned embryoor any product derived from one andimpose fines and imprisonment for vio-lators.

Genetics-Specific Legislation—A Personal View

In the rush to identify and focus onthe social implications of genetic privacylegislation, I believe policymakers skipover obvious questions. Because of this,it is important for advocates and geneticcounselors to ask the following ques-tions. Is there anything new here? Doesthis present a different genre of socialand ethical issues? Alternatively, doesrecently developed technology ask us tore-examine long-standing confidential-ity issues that have never been truly re-solved?

Specifically, legislators should be at-tentive to the serious inequities of genet-

ics-specific legislation and, in the spiritof the moral and policy values surround-ing the Equal Protection clause, shouldbroaden the nondiscrimination and pri-vacy protections to include all medicalinformation (Suter, 2001). Perhaps a leg-islative strategy that re-conceptualizesthe problems and shifts the focus on ge-netics to those features of medical infor-mation that render it susceptible to dis-crimination and invasion of privacywould be more equitable, coherent andjust. Health advocates, genetic counse-lors and other healthcare professionalsshould become active voices in this de-bate and work to inform legislators ofthe need for a comprehensive rather thanan incremental approach to policy re-lated to confidentiality issues.

Pat Banta, HA’00, assumed a new positionin August as manager of government grantsat the Visiting Nurse Service of New York.Prior to that, she was a senior program ana-lyst at the Office of Inspector General, Of-fice of Evaluation and Inspections, duringwhich time she wrote this article.

REFERENCES:

Annas, G. J. & Elias, S., Eds. (1992). Gene Map-ping: Using Law and Ethics as Guides (p.9). NewYork: Oxford University Press.

Suter, S. (2001). The Allure and Peril of Genet-ics Exceptionalism: Do we need special geneticslegislation? Washington University Law Quarterly,79(3).


ics such as chromosomes and inheritancepatterns, along with a description of ge-netic counseling services and how theycan be obtained. We often included a listof genetic support groups and resources.

For those whose lives have beentouched by genetic disease, such geneticservices are very important. However,although they are gradually expandingin number, these resources remainlargely unknown to many healthcareproviders, including physicians, socialworkers and even geneticists. This situ-ation provides a perfect instance inwhich the genetic advocate could im-prove the healthcare experience of manyby educating healthcare professionalsabout the importance of genetic supportgroups and resources.

A Framework for ActionIn some ways, the March of Dimes is

already filling the role of the genetic ad-vocate. By providing patient educationon topics related to reproductive healthand genetics, and by disseminating in-formation about financial and social sup-port services, it certainly is addressingsome of the critical problems that ourcurrent healthcare system so often ne-glects.

Representatives from the March ofDimes regularly give testimony at na-tional hearings on topics related to preg-nancy, health policy and genetics. TheMarch of Dimes also funds research onvarious subjects pertinent to genetic andreproductive health. Its work has laid thefoundation upon which further advo-cacy projects can be built.

The role of the genetic counselor is

expanding rapidly. Simultaneously, thefield of advocacy is growing in breadthand impact. Without question, there isan overlap between these two profes-sions. It seems likely that, as technologyprogresses and genetic services becomemore accessible, the need for a new spe-cialist position combining the strengthsof both advocacy and genetic counsel-ing will emerge as a sort of “genetic ad-vocate.” By helping families to make in-formed reproductive choices, advocat-ing for those affected with genetic con-ditions, and educating our political lead-ers, legislators and the general public,genetic advocates may be able to im-prove significantly the responsivenessand effectiveness of our healthcaresystem.

■

22

My occasional articles for the Bul-letin are meant to review bio-ethical issues occurring in the

clinical setting. Sharing a case historywith its dilemmas, its ethical issues andits outcome is a graphic way of empha-sizing the importance of bioethical prin-ciples and the need for advocacy in medi-cine. This time there is no case, but I hopean equally engaging topic: the dilemmassurrounding the retention and storage ofblood samples or other tissue specimencollected in a clinical trial.

Tissue banking is a hot-button topicfor me as an IRB (Institutional ReviewBoard) member. Before telling you whythis issue has become so important, how-ever, let me digress to explain what anIRB does. An IRB is an independent orfree-standing committee that reviews re-search protocols at medical or other fa-cilities; its main mission is the protectionof human subjects. In submitting appli-cations for IRB approval, researchers, orPrincipal Investigators (PIs), must revealwhat they propose to do—includingwhat precisely will be done to, for or withthe human subject. I have italicized humansubject so that we always bear in mindthat prevention of harm is critical.

Among the many items to be filled outin the application for IRB approval is onethat states whether or not blood or othertissue specimen are to be collected andhow these specimen are to be used. Mostoften, blood drawing or biopsies are donefor diagnostic purposes, but, when theperson is also a research subject, the left-over samples become important researchmaterial. These samples belong to thedonor, however, and what is to be donewith them should be determined by theperson giving them. It is essential, there-fore, that the potential participant be in-formed of her rights and the implicationsof using specimen for research. The word“informed” is operative because the pur-pose and use of these specimen shouldbe clearly stated in the Informed Consentdraft that is included in the applicationpacket and should as well be explicitlyexplained by the PI to the recruit.

But why do we care? The blood hasbeen drawn; the biopsies done. Whocares? We do need to care because this is

Clinical Research and TissueBanking: An Ethics PerspectiveBy Alice Herb no longer simply a donation of what

would otherwise be discarded. Technol-ogy now enables us to identify a personby her unique DNA. Each sample col-lected bears the unmistakable mark ofthat donor. Thus, protection of thedonor’s confidentiality becomes a majorconcern.

Confidentiality is a very fragile con-cept in this electronic age, even withHIPAA (Health Insurance Portability andAccountability Act) legislation that at-tempts to protect a patient’s health infor-mation from unauthorized electronictransmission. Too many people can ac-cess information that could be damag-ing in terms of insurance, employmentand even criminal investigations. Infor-mation on genetic markers, genetic pre-dispositions or genetic patterns can noweasily be extracted from the samples andperhaps bring untoward difficulties orembarrassment for the research subject,and possibly even her family. For thesereasons, each person faced with donat-ing samples should be fully aware of therisks involved. So back to the necessityfor informed consent.

Since informed consent is an integralelement in the IRB approval process, it isat this pre-approval stage that the optionsfor consent to the various uses for thespecimen need to be spelled out. Let ussuppose that the potential recruit decidesthat the quest for scientific knowledge isworth the risk of an unwarranted viola-tion of confidentiality. She is altruistic orwants to know more about her diseaseand is willing to allow scientists/physi-cians to use her specimen for explorationinto that disease. She might even be will-ing to agree to research into all cancersor into any disease. But would she bewilling to have her specimen made intoa cell line that might be patented and ul-timately used for commercial purposeswith the clear understanding that shewill not share in the profits? She might.You might. But I may not. These specificchoices should be individually andclearly stated and explained in the con-sent process giving the potential subjectthe option of consent or refusal for eachoption.

One other element that may influencea consent or refusal is whether the samplecan be stripped of its identification. If

new findings are not going to be com-municated to the donor, one would ques-tion why any linkage needs to be main-tained. In order to provide confidential-ity, PIs routinely assign a number or othersymbol to the specimen and the PI com-mits to keeping the identification underlock and key. But even this linkage canbe risky for the donor since researchsponsors, federal, state and local officialsand others may under certain circum-stances have access to the genetic infor-mation. Even double coding, giving onemore layer of protection, does not guar-antee confidentiality. Destroying identi-fiers, however, can offer the desired ano-nymity. PIs may insist that for certainresearch linkage is essential. Under thesecircumstances, it behooves PIs to explainwhy.

We must, therefore, be reminded thateven one drop of blood cannot be re-tained without permission and that con-fidentiality and privacy remain vital con-cepts in protecting us from unwarrantedintrusions. Potential research partici-pants may indeed opt to overlook confi-dentiality risks. That is their right. Themotivation to contribute to science byagreeing to the banking of tissue/bloodfor future research may in fact prevail.But informed decisions cannot be madeunless all of the salient information—in-cluding the individual’s rights to the dis-position of blood and tissue samples andthe risks to confidentiality and privacy—is provided. The participant’s free andvoluntary choice to agree to tissue stor-age should be based on her understand-ing of what she is doing, i.e., with fullnotice and disclosure.

For more specific information, see theNational Institutes of Health (NIH) train-ing website Office of Human SubjectResearch (OHSR) fact sheets: http://www.nihtraining.com/ohsr/info/sheet14.html, http://www.nihtraining.com/ohsr/info/sheet15.html

Alice Herb, JD, LL.M, is a member of theHAP and HGP faculties at Sarah Lawrence.An attorney and bioethicist, she teaches bio-ethics to graduate students at SLC and tomedical students at Downstate MedicalSchool (SUNY). Her interests include hu-man subject protection and end-of-life deci-sions. ■

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13. Gupta, P.C., Rapin, I., Houroupian, D.S.,Roy, S., Llena, J.F., Tandon, P.N. (1984).Smoldering encephalitis in children.Neuropediatrics, 15(4), 191-7.

14. Ring, A., Barak, Y., Ticher, A., Ashkenazi,I., Elizur, A., Weizman, A. (1997). Evidence foran infectious etiology in autism. Pathophysiology,4, 91-96.

15. Hornig, M., Chian, D., Lipkin, W.I. (2004,June 8). Neurotoxic effects of postnatalthimerosal are mouse strain dependent. MolPsychiatry.

16. Bernard, S., Enayati, A., Redwood, L.,Roger, H., Binstock, T. (2001). Autism: a novelform of mercury poisoning. Med Hypotheses,56(4), 462-71.

17. Blaxill, M.F., Redwood, L., Bernard, S.(2004). Thimerosal and autism? A plausible hy-pothesis that should not be dismissed. Med Hy-potheses, 62(5), 788-94.

18. Rocaz, C.H. (1933). Pink Disease (InfantileAcrodynia). Translated by Wood, I. J. London:Martin Hopkinson, LTD.

19. Chrysochon, C., Rutishauser, C., Rauber-Lithy, C., Neuhaus, T., Boltshauser, E., Superti-Furga, A. (2003). An 11-month-old boy with psy-chomotor regression and auto-aggressive behav-ior. Eur J Pediatr., 162: 559-561.

20. Blaxill, M. (July, 2001). The rising incidenceof autism: associations with thimerosal.Presentation to the Institute of Medicine.

21. Wakefield, A.J. et al. (1998). Ileal lymphoidnodular hyperplasia, non-specific colitis andpervasive developmental disorder in children.Lancet, 351, 637-41.

22. Kawashima, H., Mori, T., Kashiwagi, Y.,Takekuma, K., Hoshika, A., Wakefield, A. (2000).Detection and sequencing of measles virus fromperipheral mononuclear cells from patients withinflammatory bowel disease and autism. Dig DisSci., 45(4), 723-9.

23. Singh, V.K., Jensen, R.L. (2003). Elevatedlevels of measles antibodies in children withautism. Pediatr Neurol., 28(4), 292-4.

24. Singh, V.K., Lin, S.X., Newell, E., Nelson,C. (2002). Abnormal measles-mumps-rubellaantibodies and CNS autoimmunity in childrenwith autism. J Biomed Sci., 9(4), 359-64.

25. Bradstreet, J.J., El-Dahr, J., Anthony, A.,Kartzinel, J.J., Wakefield, A.J. (2004). Detectionof measles virus genomic RNA in cerebrospinalfluid of children with regressive autism: a reportof three cases. J Am Physicians & Surgeons, 9(2),38-45.

26. Holmes, A.S., Blaxill, M.F., Haley, B.E.(2003). Reduced levels of mercury in first babyhaircuts of autistic children. Int J Toxicol,, 22(4),277-85.

27. Hu, L.W., Bernard, J.A., and Che, J. (2003).Neutron Activation Analysis of Hair Samples forthe Identification of Autism. Transactions of theAmerican Nuclear Society, 89, 16-20.

28. Bradstreet, J.J., Geier, D.A., Kartzinel, J.J.,Adams, J.B., Geier, M.R. (2003). A Case-ControlStudy of Mercury Burden in Children withAutisitc Spectrum Disorders. Journ Am PhysSurg., 8(3), 76-79.

29. James, S.J. (Spring, 2004). Abnormal folate-

dependent methionine and glutathionemetabolism in children with autism: potential forincreased sensitivity to thimerosal and other pro-oxidants. Presentation to the DAN! Conference.Washington D.C.

30. Waly, M. et al. (2004). Activation ofmethionine synthase by insulin-like growthfactor-1 and dopamine: a target forneurodevelopmental toxins and thimerosal. MolPsychiatry, 9(4), 358-70.

31. Zoroglu, S.S. et al. (2004). Increasedoxidative stress and altered activities oferythrocyte free radical scavenging enzymes inautism. Eur Arch Psychiatry Clin Neurosci., 254(3),143-7.

32. Farina, M., Soares, F.A., Zeni, G., Souza,D.O., Rocha, J.B. (2004). Additive pro-oxidativeeffects of methylmercury and ebselen in liverfrom suckling rat pups. Toxicol Lett., 146(3), 227-35.

33. Baskin, D.S., Ngo, H., Didenko, V.V. (2003).Thimerosal induces DNA breaks, caspase-3activation, membrane damage, and cell death incultured human neurons and fibroblasts. ToxicolSci., 74(2), 361-8.

34. Havarinasab, S., Lambertsson, L.,Qvarnstrom, J., Hultman, P. (2004). Dose–response study of thimerosal-induced murinesystemic autoimmunity. Toxicology and AppliedPharmacology, 194, 169-179.

35. Ueha-Ishibashi, T. et al. (2004). Effect ofthimerosal, a preservative in vaccines, onintracellular Ca2+ concentration of rat cerebellarneurons. Toxicology, 195(1), 77-84.

36. Sager, P.R. NIAID Studies on Thimerosal.(Feb, 2004). Presentation to the Institute ofMedicine.

37. Burbacher, T. (2004). Personalcommunication.

38. Pichichero, M.E., Cernichiari, E., Lopreiato,J., Treanor, J. (2002). Mercury concentrations andmetabolism in infants receiving vaccinescontaining thimerosal: a descriptive study. Lancet,360(9347), 1737-41.

39. Bradstreet, J. (Feb., 2004). Biologicalevidence of significant vaccine related side effectsresulting in neurodevelopmental disorders.Presentation to the Institute of Medicine.

40. Taylor, B. et al. (1999). Autism and measles,mumps, and rubella vaccine: no epidemiologicalevidence for a causal association. Lancet,353(9169), 2026-9.

41. Peltola, H., Patja, A., Leinikki, P., Valle, M.,Davidkin, I., Paunio, M. (1998). No evidence formeasles, mumps, and rubella vaccine-associatedinflammatory bowel disease or autism in a 14-year prospective study. Lancet, 351(9112), 1327-8.

42. Kaye, J.A., del Mar Melero-Montes, M.,Jick, H. (2001). Mumps, measles, and rubellavaccine and the incidence of autism recorded bygeneral practitioners: a time trend analysis. BMJ,322(7284), 460-3.

43. Dales, L., Hammer, S.J., Smith, N.J.(2001).Time trends in autism and in MMRimmunization coverage in California. JAMA,285(9), 1183-5.

44. Madsen, K.M. et al. (2002). A population-based study of measles, mumps, and rubellavaccination and autism. NEJM, 347(19), 1477-82.

45. Jefferson, T., Price, D., Demicheli, V.,

Bianco, E. (2003). Unintended events followingimmunization with MMR: a systematic review.Vaccine, 21, 3954-60.

46. Soto, M.A., Cleary, S.D., Foster, V.B.Epidemiologic studies of MMR vaccine andautism. Commissioned by and prepared for theIOM Immunization Safety Review Committee.Retrieved from www.iom.edu/imsafety

47. Spitzer, W.O. (2003). Measles, mumps, andrubella vaccination and autism. NEJM, 348, 951-4.

48. Wakefield, A.J. (2003). MMR and autism.NEJM, 348, 951-954.

49. Wakefield, A.J. (1999). MMR vaccinationand autism. Lancet.,354, 949-50.

50. Edwardes, M., Baltzan, M. (2001). MMRimmunization and autism. JAMA, 285(22), 2852-3.

51. DeStefano, F., Bhasin, K., Thompson, W.,Yeargin-Allsop, M., Boyle, C. (2004). Age at firstmeasles-mumps-rubella vaccination in childrenwith autism and school-matched control subjects:a population-based study in metropolitanAtlanta. Pediatrics, 113(2), 259-66.

52. Institute of Medicine Immunization SafetyReview. Vaccines and Autism. National AcademyPress. Washington D.C. 2004.

53. Verstraeten, T. et al. (2003). Vaccine SafetyDatalink Team. Safety of thimerosal-containingvaccines: a two-phased study of computerizedhealth maintenance organization databases.Pediatrics, 112(5), 1039-48.

54. Hviid, A., Stellfeld, M., Wohlfahrt, J.,Melbye, M. (2003). Association betweenthimerosal-containing vaccine and autism.JAMA, 290(13), 1763-6.

55. Miller, E. (Feb., 2004). Thimerosal anddevelopmental problems including autism: UKstudies. Presentation to the Institute of Medicine.

56. Stehr-Green, P., Tull, P., Stellfeld, M.,Mortenson, P.B., Simpson, D. (2003). Autism andthimerosal-containing vaccines: lack of consistentevidence for an association. Am J Prev Med., 25(2),101-6.

57. Verstraeten, T. (2004). Thimerosal, theCenters for Disease Control and Prevention, andGlaxoSmithKline. Pediatrics, 113(4), 932.

58. Bernard, S. (2004). Association betweenthimerosal-containing vaccine and autism.JAMA, 291(2), 180.

59. Blaxill, M.F. (2004). Concerns continue overmercury and autism. Am J Prev Med., 26(1), 91-2.

60. Unknown author. (Summer, 1999). Uproarover a little-known preservative, thimerosal,jostles U.S. hepatitis B vaccination policy.Hepatitis Control Report, 4, 2.

61. Postila,V., Kilpi, T. (2004). Use of vaccinesurveillance data in the evaluation of safety ofvaccines. Vaccine, 22(15-16), 2076-9.

62. Vertstraeten, T., Davis, R., Destefano, F.(1999). Study Protocol. Internal CDC documenton the VSD Thimerosal Study, obtained bySafeMinds through Freedom of Information Act.Available at www.safeminds.org

63. Salmon D. A., Moulton, L. H., Halsey, N.A. (2004). Enhancing Public Confidence inVaccines Through Independent Oversight ofPostlicensure Vaccine Safety. American Journal ofPublic Health, 94(6), 947-950.

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bryos and gametes and related matters,with a view to recommending and shap-ing ethically sound policies for the en-tire field.” Its advocates argued that amoratorium “would provide the timeand incentive required to develop a sys-tem of national regulation that mightcome into use if, at the end of the four-year period, the moratorium were notreinstated or made permanent.” Theycontended further that, “In the absenceof a moratorium, few proponents of theresearch would have much incentive toinstitute an effective regulatory system.”

Seven members of the 18-membercouncil (one abstained) voted for “per-mitting cloning-for-biomedical-researchnow, while governing it through a pru-dent and sensible regulatory regime.”They advocated that allowing research to

go forward could only occur when thenecessary regulatory protections to avoidabuses and misuses of cloned embryosare in place. “These regulations mighttouch on the secure handling of embryos,licensing and prior review of researchprojects, the protection of egg donors, andthe provision of equal access to benefits.”

The Council has added sex selection,genetic enhancement and patenting hu-man life to its future topics.

Lessons LearnedThe National Commission, the

President’s Commission, the EAB,BEAC, NBAC and the PCB were all na-tional responses to the need for a mecha-nism to address contentious issues in thepractice of medicine and the conduct ofbiomedical research. This would suggestthat policymakers recognize the need fora federal effort comprising diversely

trained individuals to monitor the inter-face between ethics and medicine. Intheory, such bodies are charged with theresponsibility of informing legislators,regulators, adjudicators, healthcare pro-viders, scientists and the lay public aboutprinciples to be considered when mak-ing difficult decisions in medicine andbiomedical research. National commis-sions allow debates about controversialtopics to go forward in a somewhat lesspoliticized way than is possible on thefloors of Congress or on the center stageof the White House.

Kathi Hanna, HGP ’80, is a science andhealth policy consultant in Washington,D.C. She served as a consultant to the NIHHuman Embryo Research Panel and as Re-search Director for the National BioethicsAdvisory Commission.

Advocates and Genetic Counselors, Unite!Continued from page 21

Reflection on the InternshipExperience

Working as an intern at the March ofDimes reinforced my belief that genet-ics and advocacy are interrelated in waysimportant both to individuals and topolicy. But it also immersed me in theworld of contradictions and compro-mises that can accompany advocacywork. In our models class last semester,we kept coming back to the question ofidealism vs. realism and how to balancethese when striving to reach advocacyobjectives. For example, we had somespeakers who explained that, in order tobe effective in their advocacy efforts, theyhad to limit their focus to just one spe-cific issue or make other compromisesalong the way.

During my tenure at the March ofDimes, I had a good opportunity to con-front precisely this tension as I some-times became extremely frustrated bythe organization’s position of “neutral-ity” on controversial topics—topicsabout which I am most passionate: re-productive rights, stem cell research, fe-tal tissue research, sex selection and abor-tion. In the Resource Center, when I wasasked questions concerning these or anyother potentially sensitive issues, I couldmerely respond with the simple state-ment “The March of Dimes does not

provide information on this issue.”My reaction to working within this

information restriction seesawed. Atfirst, I was interested to learn about theworkings of such a successful institution,and happy to be able to answer the ques-tions that I could. As time progressed,however, it became increasingly difficultfor me to ignore the pleas of young girlsseeking pregnancy termination informa-tion, parents inquiring about stem celltreatment options and countless otherdesperate emails, letters, and phone callsfrom people seeking information that Iwas not allowed to provide. Eventually,I came to realize that the research, pub-lic health advocacy, and pregnancy edu-cation that the March of Dimes providesmight not be possible without this com-promise. Their funding, for example,comes from many religious and culturalgroups that might take those dollarsaway if the March of Dimes moved evena fraction of an inch in either directionof its currently neutral positions. Effec-tiveness in a narrow area, I reasoned,might be an equally ethical choice. Butthis argument only works if there reallyis such a choice as “neutrality.”

When it came time for me to completemy final project, a presentation entitled“Pregnancy Over 40 and Beyond: Guid-ance and Information for Mature Moth-ers and Mothers-To-Be,” I learned that Icould not be “neutral” in my work, nor,

I felt, could an organization, includingthe March of Dimes. My presentationincluded information about the biologi-cal and genetic risks associated withpregnancy later in life, as well as the so-cial and psychological implications ofbeing an older parent. Rather than tak-ing a stance of neutrality, I asserted thatthere simply is not enough balanced andaccurate information available towomen who decide to have childrenlater in life. I also proposed that the in-formation that is available to thisgroup often implies that women have aresponsibility to have babies earlier inlife, when they are in their “prime,” de-spite the fact that the second decade oflife is simply not the ideal child-bearingdecade—socially, financially or psycho-logically—for increasing numbers ofmodern women in this country andmany others.

Numerous March of Dimes staffmembers who attended my lecture chal-lenged the notion that it should be awoman’s choice to determine when shehas a baby. One woman (a physician)even expressed her opinion that theMarch of Dimes should actually put outa publication discouraging women fromgiving birth over the age of 35 becausethe slightly increased risk of birth defectsis in direct conflict with the March ofDimes’ mission to “save . . . and improvethe lives of babies.”


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A huge amount of genetic infor-mation is available on the web.Before diving in, however, it is

important to define one’s motives for re-search. Most often, people are interestedin general education (e.g., academic re-quirement or curiosity), obtaining infor-mation about a genetic condition affect-ing self or family, or obtaining such in-formation when self or family is at risk.

Identifying the reason for one’s inter-est in genetics provides focus and direc-tion to the search. In general, there arethree principal types of information:

• Research concerning physical fea-tures and symptoms is helpful in look-ing for and recognizing manifestationsof a disorder.

• Knowledge about the physiologyof a genetic disorder aids in understand-ing how it can occur. Often people areunaware of, or misinformed about, thecauses of a genetic condition.

• Support group websites for specificgenetic disorders can be beneficial notonly for the patient, but for friends andfamily as well. While they do not neces-sarily offer accurate and reliable facts,they do help individuals not to feel soalone during a difficult time.

Where to Obtain InformationThe vast amount of information on the

web can be overwhelming—even to pro-fessionals. It is important to be able tosift effectively through this mass of datato obtain accurate information relevantto one’s needs. Search engines are anacceptable starting point; however, it isuseful to limit a search to obtain relevantand accurate websites. Use an enginethat allows for Boolean operators, simplewords such as “and,” “or” and “not” thatdefine the relationships between key-words. Other features such as specificfield searches, adjacency, proximity, trun-cation and plain English can also be help-ful in narrowing the search results.

The table below lists genetic websites

Researching Genetic Conditions on the InternetBy Paige Hankins considered reliable for research pur-

poses. The first entry, the NCBI website,is a widely used and reliable resource. Itincludes information from PubMed, bio-medical literature via the National Li-brary of Medicine, and OMIM, theOnline Mendelian Inheritance of Manthat catalogs human disorders andgenes. Many other research-basedwebsites actually use the NCBI resourcefor their articles. In Medline, there are avariety of options available to help fo-cus a search—a specific paper, an answerto a genetic question or general informa-tion about a topic. It also has an optionto help those who are unsure aboutwhere to begin searching, or even tobroaden a search to other databases.

How to Spot NonsenseAs the internet is open to the general

public and is not screened or filteredthrough publishers, almost anything canbe posted on the web. The benefit of thisfree flow of information is that the pub-lic has immediate access to information;the downside is that the accuracy of thematerial is often questionable. It is im-portant to be able to distinguish good,accurate information from that which isfaulty or misleading. In any article, citedreferences are a must. This is simply con-firmation that other studies or articleshave used similar data and/or come tosimilar conclusions. When researching,it is best to stay with well-known orga-nizations and websites. Typically, theirdata is more widely referred to and cri-tiqued. Editorial articles and chat roomscan be interesting and enlightening, butshould not be deemed accurate informa-tion. Any information obtained on oneof these sites should be confirmed usingresearch data from a more solid source.

Even when reading an article from ascientific journal or study, there are sev-eral questions that should help deter-mine if the test method was valid. Takenote of the “methods” section of the ar-ticle. Its design is most important in de-termining whether the article is sound

and significant. The following questionswill help in that process.

• Was the study original? It can besimilar to others, but, if so, does the newresearch add to the literature in any way?

• Who is the study about? How weresubjects chosen? Who was excluded/included? What was the environment inwhich the subjects were tested?

• Was the study design sensible? Iftesting drug treatment and/or medicalintervention, was it a double-blind, ran-domized, controlled trial? If examininga prognosis, was it a longitudinal cohortstudy? Finally, if studying causation, wasit a cohort or case-controlled study?

• Was systematic bias avoided orminimized? Systematic bias is anythingthat influences the conclusions aboutgroups and distorts comparisons. Anaccurate test maintains “all else equal,”so that the only difference between thegroups is the issue being tested.

• Was the assessment “blind”? Thoseassessing the outcomes need to be unbi-ased and objective. Even the appearanceof conflict should temper assessment ofreported results.

• Were preliminary statistical ques-tions addressed? Assessment of a study’sreliability: Was there a sufficient samplesize? Was the length of the test thought-fully determined? And was there a com-plete follow-up?

Finding genetic information via com-puter-based resources is becoming nec-essary for obtaining the latest and mostaccurate data pertaining to any geneticdisorder. In order to find relevant infor-mation efficiently, it is important to havea general understanding of the topic aswell as the method most suitable to theresearch. Once one determines the bestapproach to the search, the internet canserve as a valuable resource with up-to-date information that is quickly and eas-ily obtainable.

Paige Hankins is in her second year of theHGP.

REFERENCESCollins, Debra L. (1998). Computer-Based Re-

sources for Clinical Genetics. In Baker, Diane L.,Schuette, Jane L., Uhlmann, Wendy R. (Eds.), AGuide to Genetic Counseling (pp. 371-388). NewYork: Wiley-Liss, Inc.

Greenhalgh, Trisha (1997). Assessing the meth-odological quality of published papers. BMJ, 315,305-308.

Greenhalgh, Trisha (1997). The Medline data-base. BMJ, 315, 180-183.

http://www.ncbi.nlm.nih.gov OMIM, PubMed (Medline)

http://www.geneticalliance.org Genetic Alliance: Diseases resource, contact information on over 300 support groups

http://jama.ama-assn.org Journal of the American Medical Association: Research articles

http://www.modimes.org/ March of Dimes: Birth defects, pregnancy, newborn care, support groups

http://www.pdrhealth.com Physician’s Desk Reference: Drug information, disease overviews

http://www.rarediseases.org National Organization of Rare Disorders (NORD): Large disease database

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This issue of the Bulletin signals an“official” recognition of a new arena foradvocacy and a new era for the gradu-ate programs of Health Advocacy andHuman Genetics. Each of these gradu-ate master’s programs was the first inits field and both developed out of theneeds of patients and families. As a markof the vision of their founders, both werenamed with a view toward developinga broad professional scope rather thansimply filling that immediate need fordirect patient services in hospital set-tings. The early Health Advocacy Pro-gram primarily educated patient repre-sentatives, but now it educates a widerange of professionals who advocate forpatients, families, communities andhealthcare consumers; the Human Ge-netics Program primarily has educatedgenetic counselors, but its graduates arenow moving into many areas involvingresearch, policy and, yes, advocacy.

The initial focus on a single profes-sional career track—patient representa-tive or genetic counselor—meant thatthe programs had little to do with eachother, despite the fact that they were di-rected from the same office. (We stillmarvel at how Joan Marks so capablydirected both graduate programs for al-most 20 years!) Today, however, as ge-netic science advances, medical decisionmaking for consumers becomes morecomplex, psychosocial implications ofdiseases and disabling conditions re-quire enhanced consumer information,support and advocacy, and barriers tocare—incredibly—increase in our soci-ety, we recognize the critical arenas inwhich these programs are becomingconceptually integrated.

Our movement toward creating anintegrated “space” between the two pro-grams has been enabled—and, indeed,encouraged—by students and facultywithin the programs and faculty in theCollege. We have written in this Bulletinabout the few brave and very hard-working students who have pursuedjoint master’s degrees in Human Genet-ics and Health Advocacy, and this issueincludes a contribution from MeghanHoward, who is currently enrolled in thejoint-degree program. As an indicationof how much our two programs are al-ready addressing related issues and ar-eas of study, we have three faculty mem-

From the HAP Director...By Marsha Hurst bers who teach in both programs: Alice

Herb in bioethics and research ethics,Sayantani DasGupta in illness narrativesand cultural diversity and Mike Smithin research methods and program evalu-ation.

Within the College, we have been afounding and active part of the Health,Science and Society faculty group, andit is with the intellectual encouragementof this group and the participation ofsome members of the College facultythat we have really moved our joint ad-vocacy and genetics program forward.During the past year, this intersection hasbeen explored in multiple forums: inHealth, Science and Society faculty semi-nars on “the new genetics”; with DianePaul, a political scientist from the Uni-versity of Massachusetts who writesabout the history of and policy issues re-lated to genetics and eugenics (see ar-ticle on page 18); in preliminary workby our two programs and graduate stud-ies on issues related to the protection ofhuman subjects in genetic research andthe possible role of an institutional re-view board at Sarah Lawrence; in lastDecember ’s forum on ChildhoodAsthma in the Community; in an excit-ing research project on narratives of heri-tability; and in a Reunion 2004 panel onobesity.

Looking ahead, Rachel Grob has beenleading a grant-funded exploration (aFord Foundation grant through theCouncil on Graduate Education) of howgraduate education in genetics coulddraw on the curricula and professionalmodels of advocacy to develop profes-sional tracks in two advocacy-relatedareas, genetics and public health advo-cacy, and genetics and research ethics.The new SLC Center for ProfessionalDevelopment and Civic Engagement isstarting its work with a focus on thehealth programs and an expansion ofour already substantial programmingfor professionals into more community-based activity, as well as areas in whichwe can provide professional leadership.The Health Advocacy conference onAdvocates in Research, scheduled forJanuary 2005, is planned as the first of aseries of forums to bring together advo-cacy groups from across the spectrum ofdisease-specific and issue-focused orga-nizations, including genetics, to addresscritical issues of concern to all health ad-vocates, analyze successful models of

advocacy and forge alliances to work to-gether to promote common goals.

Increasingly, genetics is moving intothe public consciousness. Clearly themapping of the human genome, whilemistakenly understood by the public asa completion, is just the beginning of agenuine paradigm shift, moving genet-ics to a more central place in scientificunderstanding and ultimately medicalpractice. As advocates and geneticists,we face a difficult task of promoting theuse of this knowledge in a way that ac-knowledges it is only one factor in a verycomplicated explanatory system inwhich environment plays a large andpoorly understood role. In addition, weare very aware of the importance of un-derstanding history, lest we be“doomed” to repeat it. This historicalperspective on issues of genetics andadvocacy stares us in the face with thelegacy of suspicion and distrust causedby the Tuskegee study, a constant re-minder of how all research embodies thevalues of society.

Geneticists must become advocates inpart because there is a need for publicdiscourse that moves engagement fromthe world of entertainment and mediasensation into the world of thoughtfuldiscussion, evaluation and consideredaction. As we watch movies like “Twi-light of the Golds” and “Gattaca,” readheadlines about political battles overstem cell research and cloning, considerthe implications of DNA and exonera-tion of death row inmates, and worryabout genetically engineered food andour children’s future, there can be nodoubt that genetics and advocacy mustbe partners in the years ahead. Patients,families, communities, and, indeed, ourcivic society require this partnership—and SLC is a good place to begin. ■

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In a recent article entitled “Now CanWe Talk About Health Care?” (Clinton,2004), Hillary Rodham Clinton reviewssome of the medical advances of the last

By Caroline Lieber

From the HGP Director...tion, we mastered each new concept, ourscientific knowledge grew and wemoved deeper into the insular, rarefiedworld of genetic conditions and the sci-entific literature that explained them.

For the last five years, I have beentraining others to become genetic coun-selors. In doing so, I have moved out ofthe microscopic world of patient care. Ihave had the opportunity to lift my headup and look around at the place genet-ics holds at the cross sections of health,science and society. I am ever more per-suaded that, as the “burgeoning field ofgenetics” (Clinton) sprawls outward, thepatient-based concerns of genetic coun-selors will have to broaden as well. Theworld of genetics is expanding beyondrare disorders and is impacting allpeople. Diagnosis and management ofpopulation-based disorders are takingcenter stage in health as researchers dis-sect complex yet common conditionslike diabetes and cardiovascular disease,seeking to understand the interaction ofgenetics and the environment.

Implications of the genetics revolutionalso impact our lives in areas other thanhealth. As genetics moves into the main-stream, issues such as privacy of infor-mation, genetic non-discrimination, pro-tection of human subjects in research andinsurance coverage all need to be de-bated by experts from many fields todetermine appropriate policies and eq-uitable use of resources. Our perspec-tives as genetic counselors need tostretch as well. We need to incorporatethe views of policymakers, research or-ganizations, other healthcare profession-als, advocacy groups and the lay public,welcoming their contributions to theforthcoming discussions.

I appreciate that there is a great dealof overlap between genetics and healthadvocacy. Marsha and I have had manydiscussions about the issues describedabove. I realize that there is a need todevelop a “genetic citizenship”(Jennings, 2003) in which we all take partin raising questions and discussing themyriad issues that likely will affect us asgenetics moves into the 21st century.

REFERENCESClinton, Hillary Rodham. (2004, April 18). Now

Can We Talk About Health Care? New York Times.Jennings, Bruce. Genetic Literacy and Citizen-

ship: Possibilities for Deliberative DemocraticPolicymaking. Submitted for publication Novem-ber 12, 2003.

Many in the room seemed to make“saving babies” their sole priority, with-out fully considering other equally im-portant objectives, such as “savingwomen” or “providing accurate healthinformation to the public.” It becameclear to me on that day that, in order tofeel comfortable pursuing the goals ofan advocacy organization, the individualadvocate must be sure that those objec-tives do not conflict with her own per-sonal values.

In light of these complexities, I pro-pose that genetic counselors and healthadvocates begin to consider seriously the

Advocates and Genetic CounselorsContinued from page 24 ways in which our two areas of exper-

tise can be integrated to best benefit con-sumers. Both professions are, by theirvery nature, concerned about those dif-ficult and controversial issues we con-front as we engage in serving individu-als, families and the community. Sortingout our own values and their place inour work is central to our integrity aswe go forward—and certainly to myown sense of professional ethics andpersonal principles.

Meghan Howard is a dual-degree student en-rolled in both the HAP and HGP. She worksas an editorial specialist for the Journal ofAndrology. ■

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100 years and previews some of thechanges society can anticipate in the fu-ture. Personally, reading articles like thismakes me pause and reflect on my 25years of involvement in the human ge-netics field. I marvel at the changes inour understanding of molecular genet-ics that have occurred during the lastquarter century.

Over time, genetics, and thus geneticcounseling, have become more scientifi-cally complicated. Mendel’s simplisticand straightforward concepts were re-placed by new ones with big names like“trinucleotide repeats” and “uniparen-tal disomy.” As a clinician, I eagerlylearned these new genetic concepts anddeveloped ways in which to teach themgently to the courageous families withwhom I worked, thoughtfully trying tohelp them gain a sense of control in theirout-of-control lives. With great dedica-

Eugenics, Reprogenetics and Newborn ScreeningContinued from page 18

and to make sound decisions regardingpregnancy. In addition, women withPKU who discontinue the PKU diet puttheir children at additional risk: themother’s elevated level of phenylalaninecrosses the placenta even though the fe-tus is unlikely to have PKU. Hyper-phenylalaninemia affects fetal brain de-velopment causing impaired intellectualfunctioning. Paul’s point is an importantone for both genetics and advocacy: evenPKU screening, which is in many waysthe model for newborn screening pro-

grams, raises a new set of issues. Theseare, in many cases, issues we are onlybeginning to understand as the first gen-eration of women with PKU—and pos-sibly other genetic conditions—reacheschildbearing age.

Erin Carter is in her second year of theHGP.

REFERENCESSilver, L. (1997). Remaking Eden: cloning and

beyond in a brave new world. New York: AvonBooks.

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BARTH SYNDROME Responding to a Genetic Disorder: A Case … · 2021. 4. 27. · Peter Barth. This article described an X-linked recessive genetic condition that had ravaged one Dutch