Legal Challenges in Genetics, Including Duty to Warn and

Legal Challenges in Genetics, Including Dutyto Warn and Genetic Discrimination

Sonia Suter

George Washington University, Washington, D.C. 20052, USA

Correspondence: [email protected]

This reviewwill explore two legal issues in genetic counseling: genetic discrimination and theduty to warn. It emphasizes the complexity and variability of federal and state genetic non-discrimination protections in the United States and how the many gaps in such protectionsmay affect people pursuing genetic testing. The limited law addressing legal obligationsgenetic counselors owe at-risk relatives likely does not require counselors to warn relativesdirectly about genetic risks. Whether it permits them to make such disclosures, however, ismore uncertain and may depend on the jurisdiction.

LEGAL ISSUES IN GENETIC COUNSELING

Central to genetic counseling is the collectionand sharing of medical and genetic infor-

mation with clients. Genetic counselors, ofcourse, do more than obtain and share informa-tion—they work with clients to help them makeinformed decisions based on their personal val-ues and life plans. This involves discussionsabout clients’ goals, medical and personal cir-cumstances, family situation, reproductiveplans, and, of course, the reason for geneticcounseling in the first place. The genetic or ge-nomic information at the center of genetic coun-seling, therefore, has as much psychological andsocial as medical value.

Genetic information has social significancein other ways. It can affect how third parties viewand treat us. Entities like employers, insurers,mortgage companies, schools, and future part-

ners may find our genetic information relevant,raising issues about who can access our geneticinformation and how they can use it. In addi-tion, because we share many genetic variantswith family members, genetic information thatis personally andmedically significant to us maybe equally consequential to relatives. That raisesquestions about the legal obligations geneticcounselors have toward a client’s family mem-bers to warn them about genetic risks.

This review explores these two different legalissues, with a focus on the United States. Thefirst section describes genetic nondiscrimina-tion and privacy laws, which mirror laws inmany other countries in both their reach andvariety. It highlights the scope and limitationof these laws so that genetic counselors can un-derstand how variable these protections areacross jurisdictions. Although genetic counsel-ors cannot become experts as to every legal nu-

Editors: Laura Hercher, Barbara Biesecker, and Jehannine C. AustinAdditional Perspectives on Genetic Counseling: Clinical Practice and Ethical Considerations availableat www.perspectivesinmedicine.org

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ance, they should understand the general legallandscape to help clients consider the implica-tions of obtaining genetic information, as well asthe optimal timing and context.

The second section explores cases, statutes,and regulatory law to consider what legal andethical duties genetic counselors owe a client’srelatives. Although the focus is on U.S. law,many of the same principles apply internation-ally, particularly in Europe. Although a geneticcounselor’s primary obligation is to her client,she owes certain ethical and legal obligations tothe client’s relatives. Although there is limitedlaw in this area and some uncertainty about itsreach, this section suggests genetic counselorslikely have no duty to warn relatives directly. Itmight, however, be permissible for them to do soin very rare instances.

Genetic Discrimination—What Is Protectedand What Is Not

This section lays out the areas where geneticnondiscrimination and privacy protections existandwhere they do not. The goal is to give geneticcounselors tools for helping clients understandthe implications of undergoing genetic testingor counseling in light of the complex range ofU.S. federal and state genetic nondiscriminationand privacy protections. Helping patients navi-gate this legal landscape is not easy. These legalprotections vary considerably from state to stateand depend on the context in which geneticinformation is obtained. Furthermore, there isa tension between the counselor’s ethical obli-gation to ensure that clients understand the lim-its of privacy and nondiscrimination protectionsand the danger that overemphasizing these risksmay prevent the client from undergoing genetictesting that could be beneficial to their healthand well-being.

Worries about genetic discrimination arosenot long after the Human Genome Project be-gan when ethics and legal scholars sounded thealarm that employers and insurers might usegenetic information to discriminate. Althoughthe threat of genetic discrimination was mostlytheoretical in the 1990s, state legislatures beganto craft laws to prohibit genetic discrimination,

primarily in employment and health insurance.Combining antidiscrimination features withsome genetic privacy features, the state laws var-ied in many respects: who was proscribed fromcertain uses of genetic information (antidis-crimination protections), the restrictions onthird-party access to genetic information (pri-vacy protections), and the definition of geneticinformation (Suter 2001).

For over a decade, Congress unsuccessfullyattempted to pass legislation to address thispatchwork of genetic nondiscrimination andprivacy protections. After 13 years of failed at-tempts, it finally passed theGenetic InformationNondiscrimination Act (“GINA”),1 which Pres-ident Bush signed into law in 2008. GINA wasnot the first federal law prohibiting genetic dis-crimination. The Health Insurance Portabilityand Accountability Act had already prohibitedgenetic discrimination by employer-sponsoredgroup health plans,2 although these protectionswere not fully comprehensive and left the indi-vidual insurance market untouched.

GINA differs from other antidiscriminationlaws in that it was a preemptive measure toprevent future discrimination, rather than aresponse to historical and pervasive discrimina-tion (Roberts 2010). Congress was also motivat-ed by a concern about the public health andresearch implications of the public’s fear of ge-netic discrimination, regardless of the preva-lence of such discrimination. Specifically, mem-bers worried these fears would prevent peoplefrom undergoing genetic testing or participatingin research (Roberts 2010; Suter 2019). In addi-tion, Congress wanted to remedy the “patch-work of State and Federal laws,” which were“confusing and inadequate to protect [the pub-lic] from discrimination.”3 For all of these rea-sons, Congress enacted GINA to “fully protectthe public from discrimination.”4 To that end, itdefined genetic information more broadly than

1Public Law No. 110-233, 122 Stat. 881 (2008) (codified inscattered sections of 26, 29, and 42 U.S. Congress).229 U.S. Congress §§ 1181-82 (2006), 42 U.S. Congress §§3000 gg-41 (2006).3Public Law No. 110-223, § 2(5).4Id.

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most state laws.5 Congress also wanted to ensurea minimum level of protections across the Unit-ed States by making GINA’s provisions a floorbelow which no state could go (Roberts 2010).

GINAachieves its goal of nondiscriminationin health insurance and employment in twoways. First, it prohibits discriminatory uses ofgenetic information. Health insurers cannotmake determinations of eligibility and premiumrates or create preexisting condition exclusionsbased on genetic information with respect togroup health plans and individual insurancemarkets.6 Similarly, employers may not usegenetic information to make employment deci-sions with respect to such matters as hiring,compensation, or conditions of employment.7

Second, GINA bolsters the nondiscriminationfeatures by prohibiting health insurers8 (Sarataet al. 2011) and employers (with some ex-ceptions)9 from accessing genetic informationthrough requests or inquiries (Roberts 2015).GINA, therefore, provides an element of federalprivacy protection, at least with respect to healthinsurers and employers.

Although GINA represented progress inproscribing genetic discrimination, in severalways, GINA does not “fully protect the publicfrom discrimination.” First, although its defini-tion of genetic information is broad in includingfamily history (and an expansive conception offamily history at that) (Suter 2019), its definitionis narrow in another sense. GINA does not coverdiscriminatory provisions “based on the mani-

festation of a disease or disorder of anindividual.”10 This is consistent with the generalconsensus that genetic discrimination is prob-lematic when based on a predisposition to, asopposed to manifestation of, an illness (Hall1999). Yet it is not clear why such a distinctionis morally sound. Surely a genetic counselingclient’s need for health insurance is even greateronce a genetic risk develops into disease (Suter2001). Genetic counseling clients, and perhapseven some genetic counselors, however, may notunderstand that GINA provides no protectionsagainst discrimination based on illness.

Any federal protection against health insur-ance or employment discrimination based onmanifested genetic conditions comes fromotherlaws. For example, the significant health insur-ance reforms of the Patient Protection and Af-fordable Care Act of 2010 (“ACA”)11 protectsagainst health insurance discrimination basedon most health factors, including predisposi-tion to disease, a protection that largely overlapswith GINA, and manifestation of a genetic con-dition, which goes beyond GINA (Sarata et al.2011).

Although growing public support of theACA quelled Congressional efforts to repealthe ACA (Everett 2018), the law is once againunder attack in the courts. In 2018, 20 state gov-ernors and attorneys general challenged the stat-ute’s constitutionality, and a federal judge ruledthat the ACA’s individual mandate was uncon-stitutional, rendering the entire statute invalid.12

Legal scholars strongly question the decision,which has been appealed to the Fifth Circuit.In a “highly unusual move,” President Trump’sDepartment of Defense not only failed to defendthe federal law (Keith 2018), it asked the federalappeals court to invalidate it (Pear 2019). Un-fortunately, recent oral arguments suggest thethree-judge panel of the Fifth Circuit is skepticalabout the ACA’s constitutionality (Goodnough2019). The case may ultimately end up before

5Public Law No. 110-233, §§ 101(d), 102(a)(1)(B), 103(d),104(b), 201(4)(A)(i)–(iii); 42 U.S. Congress §2000ff(A)(i)–(iii) (defining family history as “the manifestation of a dis-ease or disorder in family members”); GINA could havemodified the definition as “the manifestation of an inherit-able disease or disorder in family members,” but it did not(Suter 2019).6Public Law No. 110-223 § 102. GINA “fortified” existingprotections fromHIPAAwith respect to group plans, but its“main value” was with respect to protections against dis-crimination in the individual insurance market (Rothstein2009).7Public Law No. 110-233 § 202(b).8Public Law No. 110-233, §§101-106.9Section 202(b); Genetic Information NondiscriminationAct, Public Law No. 110-233, § 101(d), 112 Stat. 881, 884-5; § 102 (d)(2)(A), 112 Stat at 896; § 103(d), 122 Stat. at 898-00; § 104(b)(2), 122 Stat. at 901.

10Public Law No. 110-233, § 101(1)(3); 29 USCA. § 1182.11Public LawNo. 111-48, asmodified by theHealthCare andEducation Reconciliation Act, Public Law No. 111-52.12Texas v. United States (340 F. Supp. 579) (E.D. Ark. 2018).

Legal Issues in Genetic Counseling

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the Supreme Court. Thus, the fate of the ACA,including its protections against preexistingcondition exclusions, once again hangs in thebalance. Such litigation creates uncertaintyabout the scope of protections against discrim-ination based on genetic illness.

In the employment context, The Americanwith Disabilities Act (“ADA”)13 offers protec-tions for people with manifested genetic condi-tions if they can show the employer’s allegedlydiscriminatory action was based on the ADA’sdefinition of a disability.14 Unfortunately, someindividuals will lie in the uncovered gap betweenGINA’s and the ADA’s employment nondis-crimination protections. For example, someonein the early stages of a disease would not beprotected by GINA, but their mild symptomsor biomarkers might not meet the criteria forADA protections (Rothstein 2018a). This pre-sents genetic counseling challenges because it isdifficult to determine whether someone hasdemonstrated enough signs of illness to be de-nied GINA’s protections against employmentdiscrimination, but not enough for the ADA’sprotections.

An additional vulnerability with respect toemployment discrimination protections in-volves the regulation of employee wellness pro-grams, which employers offer to encouragehealthy behavior in employees to reducehealth-care costs (Wieczner 2013). AlthoughGINAprohibits employers from asking employ-ees for genetic information, it allows them tocollect such information as part of a wellnessprogram if certain conditions aremet. For exam-ple, theemployeemustgive “knowing, voluntary,and written authorization,” and the employercan only receive information in an aggregatedand unidentifiable form (Sarata et al. 2011). In2017, someCongressionalRepresentatives intro-duced a bill to reduce employers’ burdens in im-plementing wellness programs. One provision

would have allowed employers to collect identi-fiable medical history (including family history)and genetic tests,15 which would have undonemany of the privacy protections of GINA andthe ADA. News of these efforts worried individ-uals considering genetic testing or counseling.Although the legislative attempts failed, theyhighlight GINA’s vulnerability to politicalwhims, which can impact public attitudes andfears regarding genetic testing.

Another significant inadequacy of GINA isthat, in focusing only on health insurance andemployment, it ignores areas in which geneticdiscrimination may be even more likely. For ex-ample, GINA does not address life, long-termcare, and disability insurance. Similarly, GINAfails to protect against discriminatory uses ofgenetic information for mortgages or commer-cial transactions (Rothstein 2009), admission toschools, etc. Some states have enacted laws pro-hibiting discrimination in some of these areas,but their protections vary dramatically. Thepatchwork of legislation here is even sparserthan the health insurance and employmentlaws that motivated GINA’s passage.

To give an example, some state laws prohibitdisability and life insurers from discriminatingbased on genetic information that is not actuar-ially justified. That means such insurers canunderwrite insurance based on genetic informa-tion if evidence demonstrates it truly indicatesan increased risk for a relevant disability or se-rious medical condition.16 In other words, theycan charge higher premiums or deny coveragebased on genetic predispositions, precisely thetype of discrimination people feared with ad-vances in genetics.

Other state laws prohibit certain types ofinsurers from requiring genetic tests, but theydo not prohibit the use of existing genetic infor-mation, for underwriting.17 This does not pre-

13Public Law 101-336.1442 U.S. Congress § 12101 (1) (defining a disability as an“impairment that substantially limits one or more major lifeactivities,”having a “record of such an impairment,” or being“regarded as having such an impairment.”).

15H.R. 1313, 115th Congress (2017).16See generally, Genome Statute and Legislation DatabaseSearch. National Human Genome Research Institute. https://www.genome.gov/policyethics/legdatabase/pubsearchresult.cfm?content_type=1&content_type_id=1&topic=4&topic_id=1&source_id=1&keyword= &search=Search.17Id.

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vent genetic discrimination against clients whohave undergone genetic testing, but it avoidstheir being coerced into testing simply to obtaininsurance. With respect to other areas of poten-tial discrimination, the protections are extreme-ly limited or nonexistent. Genetic counselingclients should be aware of such genetic discrim-ination risks. The challenge, however, is thathelping them understand when genetic discrim-ination is still possible may lead to fears thatdiscourage their pursuit of genetic testing formedical purposes. Genetic counselors can helpclients navigate these issues by encouragingthem to consider the ideal time for testing.For example, some clients may benefit fromseeking such insurance before pursuing genetictesting.

GINA and state genetic nondiscriminationlaws also fail to protect against future areas ofdiscrimination that may arise as technologiesrefine our ability to predict disease risks throughindicators other than genetic variants. For ex-ample, these statutes do not address, let aloneconsider, the possibility of third parties usinginformation about epigenetic changes or micro-biomes to discriminate. As Professor Rothsteinnotes, “GINA has been frozen in time for at leastten years” (Rothstein 2009). These limitationswill be increasingly relevant in genetic counsel-ing as the scope of information patients obtainexpands beyond analysis of genetic variants.

Finally, GINA provides only limited privacyprotections. It restricts to some extent the infor-mation that health insurers and employers mayrequest or require, but it does not address pri-vacy protections in other realms. The mostcomprehensive law addressing genetic privacyis the Health Insurance Portability and PrivacyAct (HIPAA) Privacy Rule, which protects“identifiable health information”18 by prohibit-ing its disclosure without written authorizationif such disclosure is not for treatment, payment,or health-care operations.19 After GINA wasenacted, the Privacy Rule was modified to ex-pressly include genetic information within its

protected health information.20 HIPAA’s fede-ral privacy protections, however, only applyto health-care providers, health plans, healthclearing houses, and business associates of theseentities.21 Consequently, genetic privacy protec-tions outside the health-care context depend onthe patchwork of state legislation.

Not all states have genetic privacy laws, andthose that do vary considerably. Some protectgenetic privacy by requiring an individual’s(written and/or informed) consent to performa genetic test or DNA analysis, to obtain or re-tain an individual’s genetic information, or torelease genetic information to third parties. Afew states define genetic information as the in-dividual’s property, although it is not preciselyclear what added protections that label offers(Suter 2004). Sometimes these statutes are lim-ited to specific entities such as insurers, employ-ers, and/or schools. Most of these laws createexceptions for activities like diagnosis and treat-ment, newborn screening, forensics, etc.22 Al-though genetic counselors cannot be expectedto know the particular privacy protections ofevery jurisdiction, they can assure patients thatinformation obtained through genetic counsel-ing clinics or other health-care facilities is pro-tected by HIPAA.

As more people seek genetic testing outsidethe medical context, however, the protectionsover genetic information will be more limited.GINA, HIPAA, and many state genetic privacyor nondiscrimination statutes simply do not ap-ply in this context. For example, direct-to-con-

1845 C.F.R. § 160.103 (2014).1945 C.F.R. § 164.508 (2013).

20Modifications to the HIPAA Privacy, Security, Enforce-ment, and Breach Notification Rules Under the Health In-formation Technology for Economic and Clinical HealthAct and the Genetic Information Nondiscrimination Act;Other Modifications to the HIPAA rules, 78 Fed. Reg.5566-01, 5661-62 (Jan. 25, 2013) (noting that prior to enact-ment of GINA, the Department of Health and Human Ser-vices had issued guidance that genetic information was con-sidered protected health information under the PrivacyRule).2145 C.F.R. § 160.103 (2018).22See generally, Genome Statute and Legislation DatabaseSearch. National Human Genome Research Institute. https://www.genome.gov/policyethics/legdatabase/pubsearchresult.cfm?content_type=1&content_type_id=1&topic=4&topic_id=1&source_id=1&keyword=&search=Search.



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sumer (“DTC”) genetic testing companies like23andMe are not among the four listed entitiesto which HIPAA applies. GINA is only relevantto DTC genetic testing to the extent it prohibitsemployers or health insurers from seekinggenetic information, including informationgenerated by DTC companies. One’s controlover genetic data generated through DTC com-panies largely depends on their varied practicesand policies (Hazel and Sogbogan 2018). Somestate laws might grant consumers limited con-trol over this information, but most would not.Moreover, some elements of genetic privacy arevirtually impossible to protect as the expansionof DTC genetic testing allows individuals toidentify the presence or absence of geneticlinks in families (Holger 2018). Although suchinformation may not reveal disease propensity,it highlights the limits of our control over ourgenetic information.

This brief survey of genetic privacy and non-discrimination laws suggests that people con-templating genetic testing should understandthe complexity, range, and limits of state andfederal protections. Genetic counselors canplay a role in emphasizing the variability in pro-tections against discrimination outside of healthinsurance and employment. They can also indi-cate that, in many jurisdictions, protectionsagainst genetic discrimination in areas likelong-term care, life, and disability insuranceare limited or nonexistent. Genetic counselingclients should also understand that, once theirgenetic information is generated, their ability tocontrol third-party access to it might be restrict-ed. Although the greatest protections exist forinformation generated in the health-care con-text, they are minimal in the realm of DTC ge-netic testing.

Genetic counseling clients should also un-derstand that entities other than health insurersand employers who might have an interest inone’s genetic information—life insurers, long-term care insurers, schools, mortgage brokers,etc.—are legally entitled in most jurisdictionsto ask individuals whether they or family mem-bers have received genetic testing or counseling,and if so what the results are. A failure to answersuch questions truthfully would invalidate the

terms of any insurance contract they obtain.23

Clients should therefore consider not only thepersonal and medical value of obtaining geneticinformation, but also the optimal timing basedon their plans and needs for other lines of in-surance. In some jurisdictions, however, even ifone planned to undergo genetic testing afterseeking life, disability, or long-term care insur-ance, these insurers may be legally entitled tomake genetic testing a precondition for obtain-ing insurance.

Asking genetic counselors to address, ingeneral terms, the complicated nature of legalnondiscrimination protections demonstrateshow elusive GINA’s goal to eliminate publicfears of genetic discrimination may have been.Congress hoped GINAwould inspire more peo-ple to seek genetic counseling and testing and toparticipate in genetic research, but helping cli-ents understand its limitations may not offer thesense of security GINA was intended to instill.Nevertheless, such information is necessary toassist clients in making decisions consistentwith their values, goals, and life plans.

Even though it is appropriate for geneticcounselors to highlight the general gaps andvariation in federal and state genetic nondis-crimination and privacy laws, they cannot beexpected to become experts about the nuancedvariations in protections (or lack thereof ) acrossjurisdictions and the range of contexts in whichdiscrimination might occur. Genetic counselorsare increasingly burdened with broadening dis-closure obligations as genetic/genomic testingbecomes more complex and generates ever larg-er amounts of information. Furthermore, asmore people seek genetic information throughDTC companies, we cannot rely solely on genet-ic counselors to educate the public about theinadequacies of genetic nondiscrimination andprivacy protections. Instead, we must developmechanisms to provide greater awareness ofthese issues. Not only would that help people

23Contract voidable for fraudulent misrepresentation, 6Couch on Ins. § 82:21 (“where a representation is intention-ally false, and calculated to mislead the insurer into issuingthe policy, and is material, the policy may be avoided . . .”).

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make more informed choices, it would also en-gage the public in a larger discussion of theproper reach of genetic nondiscrimination laws.

GINA’s shortcomings reflect, to a large de-gree, the lack of political will to go further (Ray2010; Zhang 2017). Greater public awarenesscould change the political discourse and per-haps motivate efforts to expand protectionsagainst discriminatory uses of genetic and geno-mic information. As it becomesmore difficult tocontrol access to genetic information, privacyprotections may prove too weak to prevent ge-netic discrimination. Instead, we should tightenrestrictions on uses of genetic information,which requires a serious debate about the socialvalue of access to things like life, disability, andlong-term care insurance. How and where weshould draw those lines is too large an issuefor this review, but genetic counselors shouldbe part of this conversation.

Legal Duty to Warn At-Risk Relatives?

Insurers are not the only third parties interestedin a patient’s genetic information; biological rel-atives also have a personal interest in this infor-mation. Because genetic information can havesignificant value to familymembers, the consen-sus among professional organizations and ethi-cists is that genetic counselors should informpatients about the clinical relevance of their ge-netic information to family members and en-courage patients to disclose such informationto their relatives (Rothstein 2018b). The thorn-ier question is whether genetic counselors owe alegal duty to those relatives and, if so, what thenature of that duty is, particularly when the pa-tient chooses not to share clinically actionableinformation with relatives.

Only three legal cases have addressed thisissue. Although they involve physicians, theiranalysis applies to health-care providers, includ-ing genetic counselors. The first case, Patev. Threlkel, involved a mother, Marianne New,who was treated for medullary thyroid carcino-ma in 1987. New’s physicians failed to informher that the condition was autosomal dominant,posing a risk of cancer to her children.When herdaughter, Heidi Pate, was later diagnosed with

the same condition, she sued the physicians,claiming they violated their duty to warn herabout the heritable risk. Pate argued that hadshe been warned, she would have been testedand received preventive treatment.

In its 1995 ruling, the Florida SupremeCourt held that physicians owe a duty of careto “identified third parties” in the “zone of fore-seeable risk,” like New’s daughter, if the stan-dard of care requires physicians to warn patientsabout the heritability of the condition. The courtreasoned that any such standard of care existsprecisely for the benefit of individuals like a pa-tient’s children. Nevertheless, the court pointed-ly narrowed the scope of this obligation, declaringany duty of care to a patient’s close relatives “towarn of a genetically transferable disease…willbe satisfied by warning the patient.”24 The courtfound that requiring the physician to “seek outand warn” the patient’s family “would often bedifficult or impractical andwould place too heavya burden upon the physician” and would likelyconflict with statutory obligations to protect pa-tient confidentiality.25

A few years later, in Safer v. Estate of Pack, aNew Jersey appellate court faced a similar issue.In the mid-1950s, Dr. Pack treated Robert Bat-kin for retroperitoneal cancer. Unfortunately,Batkin succumbed to the cancer when hisdaughter, Donna, was 10 years old. More than30 years after her father was treated for cancer,newly married Donna Safer was diagnosed withmetastatic colorectal cancer. Arguing her cancerresulted from untreated multiple polyposis,which her father had, Safer suedDr. Pack’s estatefor failing to warn her father about the heredi-tary nature of the disease.

Assuming the standard of care required Dr.Pack towarn Safer’s father of the “genetic threat”to his children, the New Jersey appellate courthad no difficulty concluding a duty was owed to“members of the [patient’s] immediate family”facing “an avertable risk from genetic causes.”The court did not, however, follow Pate in lim-

24Pate v. Threlkel (661 So. 2d 278, 282) (Fla. 1995) (emphasisadded).25Id.



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iting the scope of the duty to informing the pa-tient of the familial risk. Instead, it declared it“may be necessary, at some stage, to resolve aconflict between the physician’s broader duty towarn and his fidelity to an expressed preferenceof the patient that nothing be said to familymembers about the details of the disease.”26

Although the Safer court did not resolvewhether “there are or ought to be any limitson physician–patient confidentiality,” the NewJersey legislature did so 5 years later by enactinga genetic privacy statute. The statute prohibitsthe disclosure of identifiable genetic informa-tion without the individual’s written consent,27

with some exceptions, including to “furnish ge-netic information relating to a decedent formedical diagnosis of” the decedent’s geneticallyrelated relatives.28 This statute effectively over-turned Safer (Rothstein 2018b), at least with re-spect to living patients who have not consentedto such disclosures.

The third case,Molloy v. Meier, involved thefailure to identify the fragile X mutation inKimberly Molloy’s developmentally delayeddaughter and to counsel Molloy about the riskof passing on the mutation to future children.Molloy remarried and had a son with similardisabilities. He was found to carry the fragile Xmutation, which ultimately led to identificationof the mutation in Molloy’s daughter. The courtheld that Molloy was owed a duty of care eventhough she was not a patient because “a physi-cian’s duty regarding genetic testing and diag-nosis extends beyond the patient to biologicalparents who foreseeably may be harmed by abreach of that duty.”29 Unlike Pate and Safer,however,Molloy did not implicate confidential-ity issues because Molloy was entitled to herminor child’s medical information. In contrast,the parties alleging the physician had a duty towarn them in Pate and Safer had no underlyingright to the adult patients’ information.

The upshot of this limited case law is thatgenetic counselors, as health-care providers,owe a duty of care to identifiable, closely relatedfamilial members, if a patient’s medical diagno-sis or genetic information reveals an “avertable”or foreseeable risk to the relatives. The trickierquestion concerns the scope of that duty.Woulda genetic counselor fulfill it by informing theclient about the medical implications to familymembers, as Pate decided? Or must a geneticcounselor, as Safer suggested, sometimes warnthe relative directly, creating tension betweenthe counselor’s duty of confidentiality to thepatient and duty of care to the relative?

In some jurisdictions, state law offers guid-ance. New Jersey’s privacy law seems to allow abreach of confidentiality only after the patienthas died. Florida’s genetic privacy statute, how-ever, consistent with Pate, prohibits disclosureof an individual’s genetic analysis without theindividuals’ consent, with no exception fordecedents.30Whether other states set such limitsdepends on whether they have genetic privacystatutes and their scope.

The HIPAA Privacy Rule is also relevant inprohibiting disclosure of protected health infor-mation, including genetic information, withoutwritten authorization if such disclosure is not fortreatment, payment, or health-care operations.These protections are not absolute, however.The Rule contains 12 exceptions in which anindividual’s personal health information can bedisclosed without the individual’s autho-rization.31 One exception allows unauthorizeddisclosures “necessary to prevent or lessen a se-rious and imminent threat to the health or safetyof a person or the public.”32 The regulatory lan-guage describes this exception to “avert a seriousthreat to health or safety” as consistent with the“‘duty towarn’ third persons” articulated inTar-asoff v. Regents of the University of California.33

In that case, a therapist’s patient revealed his in-tention tokill awomanwhomheultimatelymur-

26Safer v. Pack (677 A.2d 1188) (N.J. Super. Ct. App. Div.1996).27N.J. STAT. ANN. § 10:5-47 (2001).28N.J. STAT. ANN. § 10:5-47 (a)(6) (2001).29Molloy v. Meier (679 N.W.2d 711) (Minn. 2004).

30FLA. STAT. ANN. § 760.40.3145 C.F.R. § 164.512 (2016).3245 C.F.R. § 164.512( j) (2016).3365 Fed. Reg. 82462, 82538 (Dec. 28, 2000).

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dered. The California Supreme Court held thatthe therapist owed a duty of care to the woman,leaving open the possibility that such a dutymight have required warning her directly.34

Although differences exist between thethird-party risks in Tarasoff and in genetics(Suter 1993; King 2000), unauthorized disclo-sures might be permissible under this PrivacyRule exception if a genetic counselor believes ingood faith that (1) the client’s genetic informa-tion reveals a “serious and imminent threat” tothe relative’s health, (2) disclosure of this infor-mation would be “necessary to prevent or lessenthe threat,” (3) the relative would be “reasonablyable to prevent or lessen the threat,” and (4) suchdisclosure would be consistent with “applicablelaw and standards of ethical context.”35

In some genetic counseling scenarios, thesecond and third elements would apply. If aclient’s medical information indicates clinicallyactionable risks to a family member, by defini-tion, the relative could prevent or lessen the risk,meeting the third element. Additionally, if theclient declines to share such information withthe relative and the relative cannot otherwiselearn about the risk, unauthorized disclosuresmight be necessary to avert the risk, meetingthe second element.

In most genetic counseling cases, however,the first and last elements are hard to satisfy.Even when a client’s genetic information sug-gests a high risk to relatives of a serious disease,the risk is rarely imminent in the way a homi-cidal patient’s intent to murder might be. Even a50% risk of inheriting a genetic variant for aserious condition presents less than a 50% risk(unless the variant is fully penetrant) of devel-oping the disease at some undefined point in thefuture, which does not seem imminent. In cer-tain specialties, genetic counselors may haveclients with a heritable condition like arrhyth-mogenic right ventricular cardiomyopathy,which can pose temporally imminent risks likesudden cardiac death. In the vast majority ofgenetic counseling situations, however, predic-

tive genetic information does not present an im-minent risk, failing the first element of the Pri-vacy Rule exception.

Second, even if genetic counselorsfind them-selves in the “rare circumstances” in which therisk seems imminent,36 HIPAA’s regulatory lan-guagemakes clear it does not “preempt any statelaw” prohibiting disclosure of protected healthinformation.37 Thus, in jurisdictions with pri-vacy statutes like Florida’s, HIPAA would notoverride state prohibitions against unauthori-zed disclosure. Of course, many jurisdictionsdo not have legal restrictions to limit this ex-ception.

The Privacy Rule exception also requiresdisclosures to be “consistent with… ethicalstandards of conduct.” Professional groups(American Society of Clinical Oncology 2003;AmericanMedical Association 2015), includinggenetic counselors, emphasize the duty of con-fidentiality. The National Society of GeneticCounselors’ Code of Ethics stresses the impor-tance of maintaining the “privacy and securityof their client’s confidential information andindividually identifiable health information,unless released by the client or disclosure isrequired by law” (National Society of GeneticCounselors). This code of ethics describes nosituation in which a genetic counselor must ormay disclose information to an at-risk biologicalrelative.

The American Society of Human Genetics(ASHG), however, considers the possibility thatgenetic counselors may, though they are not re-quired to, disclose information to relatives. Butit limits permissible disclosures to very narrowcircumstances:

…where attempts to encourage disclosure on thepart of the patient have failed; where the harm ishighly likely to occur and is serious and foresee-able; where the at-risk relative(s) is identifiable;and where either the disease is preventable/treat-able or medically accepted standards indicatethat early monitoring will reduce the geneticrisk (American Society of Human Genetics1998).

34551 P.2d 334 (Cal. 1976).3545 C.F.R. § 164.512( j)(1)(i) (2016).

3665 Fed. Reg. 82462-01, 82703 (Dec. 28, 2000).3765 Fed. Reg. 82462-01, 82704 (Dec. 28 2000).



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Although narrow, this exception is slightlybroader than HIPAA’s exception because itdoes not require an “imminent” risk.

These different professional statements cre-ate uncertainty about whether breaching clientconfidentiality to warn a relative to “avert a seri-ous threat to health” would be consistent withethical standards. Such disclosure seems incon-sistentwith theGeneticCounselors’CodeofEth-ics, which prohibits breaches of confidentialitynot required by law. However, if the risk ofharm is “highly likely” and “preventable/treat-able,” it seems consistent with ASHG’s policystatement.

Finally, although the original HIPAA Priva-cy Rule does not explicitly address disclosures ofgenetic information to family members, the Of-fice for Civil Rights of the Department of Healthand Human Services, which enforces the rule,addresses scenarios in which patients’ familymembers want “to identify their own genetichealth risks.” It states that a health-care providermay share genetic information about the patient“with providers treating family members of theindividual…, provided the individual has notrequested and the health-care provider has notagreed to a restriction on such disclosure.”38 Ifupheld by courts, this interpretation seems toallow genetic counselors to disclose geneticinformation concerning a client to familymembers’ providers if the patient has not re-quested, and the genetic counselor has notgranted, a request, to restrict disclosure (Roth-stein 2018b).

This mix of case, statutory, and regulatorylaw is clearer in some respects than others. Itsuggests genetic counselors have a legal duty ofcare to a client’s relatives, if the client’s geneticinformation reveals a “foreseeable risk” to close-ly related relatives.39 The limited law suggeststhat telling the client about the risk satisfies theduty. In other words, genetic counselors do notseem to have a legal obligation to warn relativesor their physicians directly and would likely not

risk liability for failing to warn, if they explainthe relatives’ genetics risks to the patient.

It is less clear, however, whether disclosuresto at-risk relatives are legally permissible. If theHIPAA Privacy Rule exception to “avert seriousthreats to health” applies in the genetics context,it does so rarely: when the health risk is seriousand imminent, when disclosure is necessary, andwhen disclosure could avert the risk. Alterna-tively, under the 2013 interpretations of the Pri-vacy Rule, genetic counselors may sometimes bepermitted to share health information about apatient to a relative’s health-care provider fortreatment purposes. Both exceptions only per-mit rather than require disclosures, and neitherhas been tested in court.

In the rare instance when a client choosesnot to warn relatives, genetic counselors face anethical dilemma. On the one hand, disclosure torelatives could help them prevent serious med-ical harms. The necessity of disclosure to rela-tives or their patients, however, may depend onthe state of technology and access to genetictesting. For example, if whole-genome sequenc-ing becomes more routine, relatives with accessto such technology could learn about actionablegenetic risks without a genetic counselor havingto breach patient confidentiality. Sometimes,however, disclosure might be the only way toavert harm.

On the other hand, clients may be trying toprotect relatives. For example, a mother report-edly forbade her married daughters to tell herunmarried daughter about the mother’s BRCAmutation for fear it could make the unmarrieddaughter “less marriageable” (Lewin 2000).Breaches of confidentiality could cause variousharms, such as embarrassment, impaired familyrelationships (Rothstein 2018b), stigmatization,or discrimination. Finally, they could lead todistrust of genetic counselors, deterring genetictesting, genetic counseling, or participation ingenetics research, the very concerns that moti-vated GINA and related laws.

For these reasons it is ethically appropriatenot to require genetic counselors to do morethan encourage clients to warn relatives aboutgenetic risks (Rothstein 2018b). Nevertheless,an absolute rule forbidding disclosure to rela-

3878 Fed. Reg. 5668 (Jan. 25, 2013).39The case law does not make clear the outer reaches ofgenetic relatedness for such an obligation to apply.

S. Suter


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tives or their physicians raises ethical concerns.Imagine a genetic counseling client with ar-rhythmogenic right ventricular cardiomyopa-thy. In trying to cultivate a tough image as apolice officer and avoid seemingweak, he refusesto disclose his condition to relatives. His mara-thon-runner sister would be at great risk of sud-den cardiac arrest if she inherited the geneticvariant.40 Should the client’s strong interest inconfidentiality trump her strong(er) interest inliving? Though the genetic counselor likely hasno legal obligation to do so, should she be per-mitted to warn the sister if she cannot persuadeher client to do it himself?

The HIPAA interpretation that permits aprovider to inform a relative’s physician aboutgenetic risks for treatment purposes might offerthe best alternative in these rare scenarios inwhich serious and imminent risks can only beprevented by disclosure. The genetic counselorcould inform the relative’s physician, who couldrecommend genetic tests as part of “routinecare” without disclosing information about thegenetic counseling client. Although this mightprevent some harms the patient seeks to avoid, itputs the provider in the position of keeping se-crets, raising other ethical concerns. Sometimestelling the relative, if possible, might be the bestway to prevent harm.

If courts agree with the interpretations ofHIPAA allowing, in exceedingly rare instances,disclosures to relatives or their physicians toavert serious harms, genetic counselors wouldhave discretion to balance the potential harmsof disclosure and nondisclosure. Given thatthese exceptions depend in part on ethical prin-ciples, the genetic counseling community has arole to play in considering whether disclosuresare ever ethically permissible in the geneticcounseling context and, if so, under what nar-row circumstances. Until such cases are litigat-ed, however, the permissibility of disclosuresremains uncertain.

CONCLUSION

As we have seen, many legal issues in geneticcounseling are unresolved or depend on the ju-risdiction. As is often the case, the law remains afew steps behind emerging technologies. Unfor-tunately, this makes it difficult to predict withcertainty how courts will rule when confrontedwith some of these genetic counseling dilem-mas. Because norms within the genetic counsel-ing community influence the law’s approach tosome of these issues, genetic counselors mustremain engaged in the discussions and debatesconcerning the complex issues genetics and ge-nomics pose.

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published online September 23, 2019Cold Spring Harb Perspect Med Sonia Suter DiscriminationLegal Challenges in Genetics, Including Duty to Warn and Genetic

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http://perspectivesinmedicine.cshlp.org/cgi/collection/ For additional articles in this collection, see

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Legal Challenges in Genetics, Including Duty to Warn and