Psychosocial and Educational Outcomes AssociatedWith Home- and Clinic-Based Pretest Educationand Cystic Fibrosis Carrier Testing Among aPopulation of At-Risk Relatives

B. Cheuvront,1* J.R. Sorenson,1 N.P. Callanan,2 S.C. Stearns,3 and B.M. DeVellis1

1Department of Health Behavior and Health Education, School of Public Health, University of North Carolina,Chapel Hill, North Carolina

2Department of Health Policy and Administration, School of Public Health, University of North Carolina, ChapelHill, North Carolina

3Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill, North Carolina

We report on the psychosocial and knowl-edge outcomes of two different approachesto cystic fibrosis (CF) gene pretest educa-tion and carrier testing offered to 288 pro-actively recruited first-, second-, and third-degree relatives of people with CF. Onegroup received pretest education and genetesting in a clinical setting from a certifiedgenetic counselor. The other group receivedpretest education in their homes from a spe-cially prepared pamphlet and were asked tosend in a buccal cell sample for genotyping.No statistically significant differences be-tween groups were noted on measures of CFknowledge, anxiety, and positive or nega-tive affect, either while waiting for their testresults or within a few weeks after they hadlearned their results. At both measurementpoints, participants who had received homeeducation and testing reported that the test-ing was more convenient, but that they hadreceived less information than they wouldhave liked, and they were more likely to re-port being confused by the testing, althoughtheir level of CF knowledge was comparableto that of people who had been seen by agenetic counselor. In light of the increasinginterest in home-based medical testing of allkinds, this study suggests that CF carriertesting in the home warrants further con-sideration as one possible approach to faci-

litating access to testing. Am. J. Med. Genet.75:461–468, 1998. © 1998 Wiley-Liss, Inc.

KEY WORDS: cystic fibrosis; carrier test-ing; psychosocial sequelae;knowledge; satisfaction

INTRODUCTION

Cystic fibrosis (CF) is one of the most common life-shortening, autosomal-recessive disorders amongNorth American whites, with an incidence of 1 in 2,500live births and a carrier frequency in whites of 1 in 25[Welsh et al., 1995]. Shortly after isolation of the CFgene [Kerem et al., 1989], carrier testing by direct mu-tation analysis became possible. Concern arose that thedemand for CF carrier testing, not only from those atincreased risk, but from the general population as well,would overwhelm available resources [United StatesCongress, 1992]. Concerns about CF screening in thegeneral population centered on issues of test sensitiv-ity, the need for effective pretest education and in-formed consent, the availability of an adequate supplyof professionals to provide genetic counseling for peoplewho tested as carriers, costs associated with providingcarrier testing, and psychological reactions to testingpositive. Nonetheless, the current recommendation isto offer carrier testing for persons having a positivefamily history for CF. Carrier testing for individualswith a family history of CF is highly accurate. Whenthe index cases’ mutations are known, other familymembers can be tested to see if they carry either of themutations. However, there are still concerns about thedemand for such testing, effective pretest education,informed consent, and psychological reactions.

This study, funded by the National Human GenomeResearch Institute, is one of a consortium of CF studiesformed to examine levels of uptake for CF carrier test-ing, the effectiveness of alternative arrangements for

Contract grant sponsor: National Human Genome Research In-stitute; Contract grant number: 1 R01 H00693-01.

*Correspondence to: Brian Cheuvront, Ph.D., Department ofHealth Behavior and Health Education, Campus Box 7505, 246Chase Hall, University of North Carolina, Chapel Hill, NC 27599-7505. E-mail: brian@unc.edu

Received 28 January 1997; Accepted 3 October 1997

American Journal of Medical Genetics 75:461–468 (1998)

© 1998 Wiley-Liss, Inc.

pretest education and testing, and psychological reac-tions to testing. We addressed carrier uptake previ-ously [Sorenson et al., 1996, 1997]. Here we comparetwo alternative arrangements, home or clinic settings,for pretest education and testing on understanding ofCF disease and carrier testing, psychosocial sequelae oftesting, and satisfaction with testing procedures.

Traditional and Alternative Arrangements forPretest Education

A review of the literature identified no previous re-search in which investigators evaluated alternative ar-rangements for providing pretest education for CF car-rier testing and their effects on knowledge, psychoso-cial sequelae, and patients’ satisfaction with theirgenetic education and testing. Several studies have re-ported the results of alternative arrangements for pro-viding pretest education and testing in general popu-lations (e.g., among HMO participants [Tambor et al.,1994], and through advertising in clinical and nonclini-cal settings [Clayton et al., 1996]), but they did notdescribe the impact of these alternative arrangementson psychosocial outcomes. Three studies were identi-fied that examined the impact of alternative arrange-ments for postresult genetic counseling.

A number of researchers [Rowley et al., 1979, 1984;Fisher et al., 1981; Lipkin et al., 1986] conducted stud-ies comparing the effectiveness of different arrange-ments for providing genetic counseling and educationfor individuals being tested for b-thalassemia trait: (1)a videotape followed by an opportunity to speak to aphysician; (2) a conventional approach with counselingprovided by a physician; and (3) a patient-centered ar-rangement provided by internists with at least 1 yearpostresidency training in psychological medicine. Theyfound no difference among the arrangements on psy-chological impact, using the Nowlis Adjective MoodChecklist and the Tennessee Self-Concept Test. Therewere no statistically significant differences detected inknowledge about b-thalassemia and modes of inheri-tance between the groups who received their educationfrom a health care professional compared to those whosaw a videotape. Prior to education, both groups aver-aged less than 50% correct responses on a b-thalasse-mia knowledge questionnaire. After counseling, pa-tients averaged about 85% correct [Fisher et al., 1981].

Psychosocial Sequelae of CF GeneCarrier Testing

One concern of implementing genetic screening andtesting programs has been their psychosocial impact.Among the issues of concern are potential discrimina-tion, stress, changes in mood states, and anxiety expe-rienced by those found to be carriers. Previous studieshave reported psychosocial sequelae involving mixedfindings. A summary of these studies is provided byCroyle and Lerman [1995]. Briefly, negative outcomeshave ranged from embarrassment and feelings of re-duced social status, to being upset or deeply troubled[Stamatoyannopoulus, 1974; Childs et al., 1976; Mas-sarik and Kaback, 1981]. Yet other studies found noevidence of self-discrimination, or found that the nega-

tive sequelae were relatively short-lived [Wooldridgeand Murray, 1988; Massarik and Kaback, 1981]. Wil-fond and Fost [1990] hypothesized that some issuessuch as discrimination, if they develop at all, occur overtime, but changes in mood states or increases in anxi-ety may be present almost immediately upon learningone’s carrier status.

Previous research has shown that anxiety and posi-tive affect were two psychological states influenced byparticipating in CF gene carrier testing. A study of 69women who tested as carriers of a CF mutation duringprenatal care showed an increase in personal anxietywhile waiting for their partner’s test result when com-pared to pregnant, matched control subjects who testedas noncarriers [Mennie et al., 1993]. Mennie et al.[1993] concluded that in their sample it was not un-usual for women to experience anxiety upon finding outthat they were carriers, but that the anxiety subsidedwhen their partners tested as noncarriers.

Fanos and Johnson [1995] reported on data fromqualitative interviews of 54 adult sibs of CF patients,most of whom had sought carrier testing on their own.The researchers found an increase in feelings of guiltamong carriers, especially if the carriers also believedthat being a CF gene carrier conferred health prob-lems.

Evers-Kiebooms et al. [1994] used a semantic differ-ential technique and found 39 CF gene carriers com-pared to 86 noncarriers felt less positively about them-selves after learning of their carrier status. The re-searchers referred to this as self-stigmatization. Manyof the participants in their study had had no previousexperience with CF. However, carriers who wereclosely related to a person with CF (sib, aunt, uncle, orfirst cousin) described themselves as positively as didthe noncarriers. The investigators concluded that themore experience people have with CF, such as having arelative with the disease, the less likely they are tostigmatize themselves or others when they are found tobe carriers. However, the general-population portion oftheir sample was quite willing to stigmatize carriers.Evers-Kiebooms et al. [1994] hypothesized that stigma-tization from the general population was the result ofan unclear understanding of the implications of being acarrier.

Drawing on the hypotheses of Wilfond and Fost[1990], we explored three psychological states thatmight be affected by learning one’s carrier status: anxi-ety, positive affect, and negative affect. However, un-like previously studied populations [e.g., Mennie et al.,1993], our sample did not include pregnant women.

Satisfaction With Education and Testing

Previous studies have not explored participants’ sat-isfaction with alternate arrangements of pretest edu-cation and testing. Assessing satisfaction with alter-nate arrangements of delivering services may be usefulin developing service arrangements that people will bewilling to use. The relationship between satisfactionand use of services was demonstrated previously in pri-mary health-care settings [Pascoe, 1983]. Increased pa-tient satisfaction was also shown to relate to recall of

462 Cheuvront et al.

information and increased compliance [Lochman, 1983;Falvo et al., 1980]. Therefore, this study also evaluatedsatisfaction with our two education and testing ar-rangements.

SUBJECTS AND METHODSParticipant Recruitment

Participants for this study all had a relative with CFwho was being followed at the University of NorthCarolina Hospitals. There were 514 eligible relativeswho were contacted and who made a decision aboutparticipating in this study. Earlier [Sorenson et al.,1996, 1997], we described the recruitment and uptakeof the participants in this study. Figure 1 is a summaryof recruitment and uptake of the participants reportedin this paper.

Random Assignment to Education andTesting Arrangements

Prior to any contact by the researchers, entire ex-tended families of CF patients were randomly assignedto one of the two education and testing sites, 157 fami-lies to the home site and 163 families to the clinic site.Home-based education and testing consisted of twoparts. First, participants assigned to the home site re-ceived in the mail a CF carrier pamphlet developedespecially for this project. The pamphlet was the majorsource of education about CF disease and CF carrier

testing provided by this study. The pamphlet providedinformation on the following topics: CF disease symp-toms, how the disease is inherited, CF carrier status,the carrier risk to relatives, the absence of health con-sequences of CF carrier status, and the reproductiveimplications of carrier status, including options andother testing that might be performed during a preg-nancy. The pamphlet was designed to provide informa-tion as well as to assist the participants in understand-ing the process of CF carrier testing. The pamphlet waswritten at an eighth-grade reading level and pilot-tested (a copy of the pamphlet can be obtain by con-tacting the first author).

Along with the CF carrier pamphlet, home-site test-ing participants received a kit for providing a buccalcell sample. The kit consisted of a letter instructing theparticipants on how to provide the sample, using anenclosed saline rinse tube and a pouch for return mail-ing.

Participants assigned to the genetic clinic educationand testing arrangement were scheduled for a clinicvisit when contacted by the project interviewer. Onceat the clinic, the participants were provided with CFcarrier education by a certified genetic counselor. Thecounselor used the CF pamphlet as the general protocolfor guiding the educational session. The face-to-face in-teraction allowed for participants to ask questions andpursue issues of personal concern. After the educationsession, which lasted on average about 30 min, the par-ticipant was asked to provide a saliva sample and in-formed that it normally took about 4 weeks for theresults to be reported.

All participants were informed that they would re-ceive a call from the research interviewer reporting theresults and a follow-up letter from the laboratory. Itwas emphasized that if they tested positive, theirspouse or partner, if they had one, would be offered freegenetic education and testing, and genetic counselingwould be available for either or both. Study partici-pants, whether educated and tested at home or in theclinic, were given a toll-free telephone number theycould call to ask questions at any time during theirparticipation. If the questions related to CF disease ortheir carrier status, they were referred to the partici-pating genetic counselor (N.P.C.). Information wasfreely given to anyone who called, regardless of howthey had received their initial education and testing.Fewer than 10 such telephone calls were receivedthroughout the course of the study.

Data Collection Procedure

Of the total of 514 eligible relatives, 299 accepted theoffer of free education and testing. Ninety-one werefrom 31 kindreds assigned to the clinic arrangement,and 208 were from 53 kindreds assigned to the home-testing arrangement. In the case of 25 families (15families assigned to the clinic, 10 families assigned tohome testing), no relatives accepted the offer to partici-pate.

Participating relatives completed a baseline tele-phone interview and were mailed an informed-consentstatement. Upon return of the signed informed con-Fig. 1. Study flow and data collection points.

Psychosocial Outcomes of CF Carrier Testing 463

sent, they were scheduled for an appointment at thegenetic counseling clinic or sent home-testing materi-als, depending on the site to which their kindred wereassigned. The relatives were mailed a questionnairemeasuring current psychological states while theywere waiting for the results of their test.

Of the 299 samples received, 120 relatives tested ascarriers of the CF mutation in their family (36 of thosetested at the clinic, 84 of those tested at home). Of theremaining 179, 3 had inconclusive test results. Wewere unable to contact another 3 relatives who hadsent in samples. In each of these cases an attempt wasmade to locate the relative through other relatives and,if necessary, a registered letter was sent to their lastknown address asking them to contact us for their testresult.

Measures

Knowledge test. We developed a 10-item true/falsetest to measure the participants’ knowledge of CF dis-ease, basic genetics, and implications of carrier status.This test was administered to participants in the ques-tionnaire sent to them while they were waiting fortheir test results. A copy of the knowledge test appearsin Appendix A.

Psychological measures. Standardized psychologi-cal measures used in the study were chosen for tworeasons: (1) there was a consensus among the CF con-sortium members to use the same measures whereverpossible to allow for comparisons of results amongstudies, and (2) these questionnaires have been usedsuccessfully in other studies seeking to measure simi-lar concepts. Measures used included the SpielbergerState-Trait Anxiety Inventory (STAI) to measure anxi-ety as an emotional state and personality trait [Spiel-berger, 1979, 1985] and the Positive and Negative Af-fect Scale (PANAS) [Watson et al., 1988].

Participant’s satisfaction with education andtesting. We developed a measure to elicit how satisfiedor dissatisfied participants were with their educationand testing. These items measured overall satisfactionwith the process, as well as satisfaction with theamount of information received, convenience of beingtested, confusion caused by the information received,and comfort with giving the sample. This questionnairewas administered while participants were waiting toreceive their test results and again after they had re-ceived their results. Appendix B contains a copy of theSatisfaction With Education and Testing Instrument.

RESULTSSubject Characteristics

Of the relatives who participated in the study, nearly60% were female. Most relatives who participated wereof childbearing years (86%), with 30% of the total beingbetween ages 18–25. Approximately 44% had a highschool education or less, while almost 30% had at-tended some college, and 26% had at least 4 or moreyears of college. Almost half (49%) of the relatives hadan annual household income between $20,000–$50,000, 28% had incomes of less than $20,000, and24% had incomes greater than $50,000. Most of the

participants (63%) already had at least one child. A fewrelatives were not sure if they would like to have a childin the future (9%). Additionally, 55% were not planningto have a child in the future, while 36% of those testedwere planning to have a child. Table I summarizescharacteristics of the participants included in thisanalysis.

Families, and not individual subjects, were randomlyassigned to sites. Therefore, assessment of the effec-tiveness of the randomization procedure was based onindex-case and other family characteristics, and not onindividual subject characteristics. The effectiveness ofthe randomization of families was measured by com-paring the demographic characteristics of those as-signed to the clinic and home sites on the followingvariables: sex of the index case, source of the indexcase’s clinical care, length of time index case had a CFdiagnosis, number of clinic visits and hospitalizationsmade by the index case in 1993, need for identifyingpoint mutations within the family, total number of kin-dred members eligible for testing, and total number ofrelatives willing to complete a questionnaire, regard-less of their decision to be tested. Chi-square analysisdemonstrated no statistically significant differencesbetween the clinic and home families for these charac-teristics, suggesting that the kindred randomizationprocedure was effective.

Data Analysis

Data reported here were collected at three points: (1)the baseline questionnaire administered at time of re-cruitment; (2) while waiting for test results; and (3)immediately after test results were reported. Baselinedata were obtained for all 299 participants. We wereunable to collect data on 68 participants while theywere waiting for their test result. (All 299 participantswere sent the questionnaire, but if the test result cameback from the testing laboratory prior to their return-

TABLE I. Participant Demographic Frequencies*

Clinic(%)

Home(%)

Sex (n 4 288)Male 31 29Female 69 71

Age (n 4 287)18–25 years old 33 2826–40 years old 54 57>40 years old 13 15

Education (n 4 286)High school or less 27 51Some college 33 284-year degree or more 40 21

Income (n 4 278)<$20,000/year 31 26$20,000–$50,000/year 39 53>$50,000/year 30 21

Currently have children (n 4 286)No 40 36Yes 60 64

Planning to have a child in the future (n 4 287)No 45 59Not sure 14 7Yes 41 34

*Sum of percents for each variable do not always add to 100 due torounding.

464 Cheuvront et al.

ing the questionnaire, we asked them not to send thequestionnaire back when they were telephoned withtheir test result. This was the case for 25 relatives edu-cated and tested in the clinic and 43 relatives educatedand tested at home.) Additionally, 11 of the 299 par-ticipants who sent us samples were not sent apostresult questionnaire. Five of those not sent thequestionnaires were identified as being in a carrier-by-carrier couple and were removed from the study ac-cording to the research protocol and immediately of-fered genetic counseling. The 3 who had inconclusivetest results and the 3 whom we were unable to contactwith their test result were also removed from the studyprotocol. Of the 288 participants sent a postresult ques-tionnaire after they were given their test result, 47participants did not return the questionnaire (see alsoFig. 1).

The data were analyzed using SUDAAN software forclustered samples [Research Triangle Institute, 1993].The concept of clustering for statistical analysis isbased on specific variables defining specific groupmembership (in this study, the kindreds). The partici-pants came from 84 kindreds where at least one of therelatives provided us with a sample. In using clustereddata analysis techniques, the assumption is that mem-bership in a particular kindred has some effect on anindividual participant’s responses. We postulated thatat least some relatives within each kindred would talkwith each other about their carrier testing experiences.This communication among relatives was hypothesizedto affect their subsequent reactions to CF gene carriertesting, hence leading to nonindependence of partici-pants and creating the need for clustered samplesanalysis.

Knowledge

There was no significant difference between thoseeducated by the pamphlet at home and those educatedby the genetic counselor in the clinic on their overallknowledge about CF disease and carrier testing. Al-though they were not directed to do so, participants inthe home screening group potentially could have re-ferred to the pamphlet when completing the knowledgetest. We did not give the pamphlet or any other writtensummary to those educated and tested in the clinic.When tested on their knowledge of CF gene carriertesting while waiting for their test results, respondentsin both groups correctly answered approximately 9 of10 questions, with those educated by the pamphlet av-eraging 9.16 correct (range, 6–10), and those educatedby the counselor averaging 8.96 correct (range, 4–10).

Psychosocial Status

There were no significant differences in positive (PA)or negative (NA) affect while waiting for results or af-ter results were known as a result of where the personhad been educated and tested. Likewise, there was nosignificant difference among those educated and testedin the clinic compared to those who had been educatedby a pamphlet and tested at home in the amount ofanxiety they reported while waiting for their test re-sults or after they had received their results.

Satisfaction With Testing Arrangement

When asked how satisfied they were with their ex-perience of CF carrier testing, there were no statisti-cally significant differences between the home andclinic groups. However, while waiting for their test re-sults, relatives who received their education only from

TABLE II. Summary of Means, Confidence Intervals (CI), and t-Test Statistical Results

Clinic Home t-test Pvalue*Mean 95% CI Mean 95% CI

While waiting for test results (n 4 66) (n 4 165)Knowledge 8.96 (8.59, 9.28) 9.16 (9.04, 9.29) n.s.*Positive affecta 33.17 (31.31, 35.03) 30.90 (29.62, 32.17) n.s.Negative affect 14.33 (13.19, 15.48) 14.85 (14.04, 15.66) n.s.Anxietyb 15.58 (14.37, 16.79) 16.31 (15.67, 16.95) n.s.Satisfaction with testing 3.38 (3.23, 3.52) 3.51 (3.40, 3.61) n.s.Received too much informationc 1.59 (1.20, 1.78) 1.58 (1.47, 1.69) n.s.Didn’t receive enough information 1.71 (1.56, 1.86) 2.23 (2.09, 2.38) <0.001Information was confusing 1.39 (1.25, 1.54) 1.63 (1.52, 1.75) <0.05Testing was convenient 2.68 (2.38, 2.98) 3.63 (3.52, 3.74) <0.001Felt uncomfortable giving the sample 1.38 (1.21, 1.55) 1.45 (1.33, 1.58) n.s.After test results are known (n 4 70) (n 4 171)Anxiety 15.01 (13.80, 16.23) 16.19 (15.38, 17.00) n.s.Positive affect 33.24 (31.57, 34.91) 31.82 (30.31, 33.34) n.s.Negative affect 14.90 (13.38, 16.42) 14.50 (14.13, 14.86) n.s.Satisfaction with testing 3.63 (3.46, 3.79) 3.57 (3.44, 3.70) n.s.Received too much information 1.64 (1.47, 1.80) 1.60 (1.50, 1.70) n.s.Didn’t receive enough information 1.74 (1.59, 1.89) 2.12 (1.96, 2.27) <0.01Information was confusing 1.35 (1.18, 1.52) 1.55 (1.43, 1.66) n.s.Testing was convenient 2.64 (2.37, 2.90) 3.65 (3.53, 3.77) <0.001Felt uncomfortable giving the sample 1.42 (1.27, 1.57) 1.35 (1.25, 1.46) n.s.

*n.s., P > 0.05.aGeneral population mean values reported by Watson et al. [1988] are PA 4 32.0 and NA 4 19.5.bSpielberger [1979, 1985] reported average general population means between 16.89–18.17.cSee Appendix B for the full text of each item on the Satisfaction With Testing Questionnaire.

Psychosocial Outcomes of CF Carrier Testing 465

the pamphlet and provided their sample from homewere more likely to report that during the educationand testing procedure they received less informationthan they would have liked (t(83) 4 4.64) and weremore likely to report being confused by the educationand testing procedure (t(83) 4 2.17). Relatives tested athome were more likely to report that they found theprocedure more convenient than those who were re-quired to come to the clinic and meet with a geneticcounselor (t(83) 4 5.82). After finding out their test re-sults, relatives tested at home were still more likely toreport that they received less information than theywould have liked (t(83) 4 3.35), and found the proce-dure to be more convenient than those who had to cometo the clinic (t(83) 4 4.84). These differences in satis-faction between clinic and home testing arrangementswere not related to the ability of either group’s perfor-mance on the knowledge test. Although those tested athome were more likely to say that they would haveliked more information, there was no relationship withperformance on the knowledge test.

While there were significant statistical differencesbetween the groups on some measures of satisfaction, itmust be noted that the range of possible values for eachof the satisfaction measures was from 1–4 (see Appen-dix B). The magnitude of difference between the meanvalues of the significant differences was 0.20 for feelingthey had received less information than they wantedand 0.40 for feeling confused by the information theyreceived. Thus, while the differences are statisticallysignificant, they are not large differences.

Carrier Status

There were no statistically significant differences onany of the outcome measures based on carrier status.Participants who tested as carriers were no differentfrom their noncarrier relatives on our measures ofanxiety, positive and negative affect, and satisfactionwith the education and testing arrangements.

DISCUSSION

This study was a comparison of clinic and home-based pretest education and testing for CF gene carrierstatus. Our goal was to evaluate the relative effective-ness of these two approaches.

Knowledge

Our overall measure of comprehension about CF dis-ease and gene carrier status indicates that those testedat home by a specially prepared pamphlet had as muchknowledge as those educated by the genetic counselor.Our results are similar to the findings of the studieswhich used a videotape as their alternative arrange-ment for providing genetic counseling after heterozy-gote carrier testing for b-thalassemia [Rowley et al.,1979, 1984; Lipkin et al., 1986]. These findings suggestthat providing education through a carefully designedpamphlet for CF carrier testing for this population maybe as educational as receiving pretest education from agenetic counselor in terms of general CF carrier knowl-edge.

Satisfaction With Testing Arrangement

Some differences were noted between the two educa-tion and testing arrangements in participants’ satisfac-tion with specific aspects of their participation in thestudy. Although relatives educated and tested at homefound the procedure to be more convenient, they alsoreported being more confused by the information theyhad received about testing for the CF gene and felt thatthey had received less information than they wouldhave liked. While people who were educated by thepamphlet were more likely to self-report confusion withthe information they received about CF gene carriertesting, there were no differences between groups onthe test of their knowledge about CF and CF gene car-rier testing. Likewise, the fact that they received lessinformation than they would have liked is not easy tointerpret, because there was no statistically significantdifference detected on overall satisfaction with the test-ing procedure.

The genetic counselor followed a protocol thatmatched the education pamphlet for those participantswho came to the clinic. The difference in the clinic set-ting was the potential for modifying the information tofit the individual’s interests and specific situation. Par-ticipants probably had their own particular concernsabout CF and carrier testing. By having pretest educa-tion with a genetic counselor, these specific concernscould be addressed. These participants may have feltthe education to be more complete. Thus, the addi-tional, personalized interaction with the genetic coun-selor also may have led to reports of feeling less con-fused by the material they received about testing.

Psychosocial Sequelae

Wilfond and Fost [1990] suggested that mood states,and anxiety in particular, might be affected by learningone’s CF gene carrier status. We did not find this to bethe case. Carriers and noncarriers in our study did notdiffer significantly from one another on standardized,overall measures of anxiety, positive affect, or negativeaffect, either while waiting for their test results orwithin weeks after knowing their results.

Our pretest education was significantly differentfrom traditional genetic counseling. All participantswere proactively recruited. There was no precipitatingevent such as the birth or imminent birth of a poten-tially affected child to raise their anxiety, or alter theirmood states. Additionally, participants in our study didnot differ from average, general-population scores re-ported by the authors who developed the measures weused [Spielberger, 1979, 1985; Watson et al., 1988]. Itis still possible that mood states other than affect oranxiety might be affected by learning one’s carrier sta-tus.

Although we used different scales to measure posi-tive and negative affect, our results were similar tothose of Evers-Kiebooms et al. [1994], in that we didnot find any differences among carriers and noncarri-ers in positive or negative affectivity. For the relativesin our study, finding out that they were CF gene car-riers did not significantly alter their affect, regardless

466 Cheuvront et al.

of which education and testing arrangement they re-ceived.

Additional Considerations

An important distinction between this research andthe previous studies conducted by Mennie et al. [1993]and Evers-Kiebooms et al. [1994] was that none of thepeople tested in our program were pregnant. The deci-sion to seek testing in our study was not influenced bythe immediate needs of a current pregnancy.

As part of the study protocol, spouses and partners ofparticipants who tested as carriers were offered freecarrier screening. All relatives who tested as carriersand their partners, if they had one, were offeredpostresult counseling, regardless of whether or not thepartner had been tested. While 57 of 92 partners (62%)accepted the offer of free carrier testing, few partici-pants and/or their partners from either the clinic orhome screening approaches returned for counseling.We were surprised that only 17 of the relatives (6 edu-cated and tested in the clinic, and 11 educated andtested in their homes) who tested as carriers returnedfor counseling.

It is possible that global affect measures, such asthose used in this study, may lack the sensitivity todetect changes in mood states associated solely withcarrier testing. Croyle and Lerman [1995] presented adiscussion of the nature of this issue. They assert that‘‘individuals [may] not report distress or other symp-toms, [however] specific self-perceptions may be af-fected.’’ An example is cited by Marteau et al. [1992]. Ina study of Tay-Sachs carriers they found no differencebetween carriers and noncarriers in their perceptionsof current health, using a global measure. However,upon further specific, in-depth questioning, carrierswere less optimistic about their future health. For ex-ample, a global measure of anxiety takes into accountall behaviors and feelings that influence a person’soverall level of anxiety. Future studies of this typeought to consider developing indices which are createdto measure psychosocial responses to specific testingissues.

This study has several limitations when consideringapplication to nonresearch protocols. All education andtesting services were provided to the participants freeof charge. We also went to great lengths to protect theconfidentiality of the participants. Neither of these con-ditions is likely to exist apart from a research protocol.We were also proactive in providing education and test-ing by contacting the relatives directly.

Our procedure required participants to make a deci-sion about being tested when we offered testing tothem. Some of those who were not tested may seektesting later when they feel it becomes relevant to themfor whatever reason, such as the decision to have achild. Therefore, our results apply only to those rela-tives who were willing to be tested at the time we of-fered testing to them.

Considering the findings of this study along with itslimitations, it appears that a specially prepared pam-phlet for pretest education for high-risk relatives lendscredence to the possibility that alternative and lesscostly methods for providing pretest education for car-

rier screening, such as home-based testing, can be ac-ceptable in terms of knowledge, anxiety, affect, and sat-isfaction.

ACKNOWLEDGMENTS

This study was supported by grant 1 R01 H00643-01from the National Human Genome Research Institute(previously known as the National Center for HumanGenome Research).

REFERENCES

Childs B, Gordis L, Kaback MM, Kazazian HH (1976): Tay-Sachs screen-ing: Social and psychological impact. Am J Hum Genet 28:550–558.

Clayton EW, Hanning VL, Pfotenhauer JP, Parker RA, Campbell PW III,Phillips JA III (1996): Lack of interest by nonpregnant couples in popu-lation-based cystic fibrosis carrier screening. Am J Hum Genet 58:617–627.

Croyle RT, Lerman C (1995): Psychological impact of genetic counseling. InRT Croyle (ed): ‘‘Psychological Effects of Screening for Disease Preven-tion and Detection.’’ New York: Oxford University Press. pp 11–38.

Evers-Kiebooms G, Denayer L, Welkenhuysen M, Cassiman JJ, van denBerghe H (1994): A stigmatizing effect of the carrier status for cysticfibrosis? Clin Genet 46:336–343.

Falvo D, Woehlke P, Deichmann J (1980): Relationship of physician be-havior to patient compliance. Patient Counsel Health Educ 2:185–188.

Fanos JH, Johnson JP (1995): Perception of carrier status by cystic fibrosissiblings. Am J Hum Genet 57:431–438.

Fisher L, Rowley PT, Lipkin M (1981): Genetic counseling for b thalasse-mia trait following health screening in a health maintenance organi-zation: Comparison of programmed and conventional counseling. Am JHum Genet 33:987–994.

Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakrav-arti A, Buchwald M, Tsui L-C (1989): Identification of the cystic fibrosisgene: Genetic analysis. Science 245:1116–1120.

Lipkin M, Fisher L, Rowley PT, Loader S, Iker HP (1986): Genetic coun-seling of asymptomatic carriers in a primary care setting. Ann InternMed 105:115–123.

Lochman JE (1983): Factors related to patients’ satisfaction with theirmedical care. J Community Health 9:91–109.

Marteau TM, van Diujn M, Ellis E (1992): Effects of genetic screening onperceptions of health: A pilot study. J Med Genet 29:24–26.

Massarik F, Kaback MM (1981): ‘‘Genetic Disease Control: A Social Psy-chological Approach.’’ Beverly Hills: Sage Publications. pp 1–158.

Mennie ME, Compton ME, Gilfillan A, Liston WA, Pullen I, Whyte DA,Brock DJH (1993): Prenatal screening for cystic fibrosis: Psychologicaleffects on carriers and their partners. J Med Genet 30:543–548.

Pascoe GC (1983): Patient satisfaction in primary health care: A literaturereview and analysis. Eval Program Plann 6:185–210.

Research Triangle Institute (1993): SUDAAN Survey Data Analysis Soft-ware (Version 6.34), Research Triangle Park, NC.

Rowley PT, Fisher L, Lipkin M (1979): Screening and genetic counselingfor b thalassemia trait in a population unselected for interest: Effectson knowledge and mood. Am J Hum Genet 31:718–730.

Rowley PT, Lipkin M, Fisher L (1984): Screening and genetic counselingfor b thalassemia trait in a population unselected for interest: Com-parison of three counseling methods. Am J Hum Genet 36:677–689.

Sorenson JR, Cheuvront B, Bruning A, Talton S, DeVellis B, Koch G,Callanan N, Fernald G (1996): Proband and parent assistance in iden-tifying relatives for cystic fibrosis carrier testing. Am J Med Genet63:419–425.

Sorenson JR, Cheuvront B, Bruning A, Talton S, DeVellis B, Koch G,Callanan N, Fernald G (1997): Proband and parent cooperation with anextended family cystic fibrosis carrier testing program. Am J MedGenet 70:121–129.

Spielberger CD (1979): ‘‘Preliminary Manual for the State-Trait Personal-ity Inventory.’’ Tampa: Human Resources Institute, University ofSouth Florida. pp 1–19.

Spielberger CD (1985): Assessment of state and trait anxiety: Conceptualand methodological issues. South Psychologist 2:6–16.

Psychosocial Outcomes of CF Carrier Testing 467

Stamatoyannopoulus G (1974): Problems of screening and counseling inthe hemoglobinopathies. In Motulsky AG, Lenz W (eds): ‘‘Birth Defects:Proceedings of the Fourth International Conference, Vienna 1973.’’Geneva: Exerpta Medica. pp 268–276.

Tambor ES, Bernhardt BA, Chase GA, Faden RA, Geller G, Hofman KJ,Holtzman NA (1994): Offering cystic fibrosis carrier screening to anHMO population: Factors associated with utilization. Am J Hum Genet55:626–637.

United States Congress, Office of Technology Assessment (OTA) (1992):‘‘Cystic Fibrosis and DNA Tests: Implications of Carrier Screening(OTA-BA-532).’’ Washington, DC: US Government Printing Office. pp24–25.

Watson D, Clark LA, Tellegen A (1988): Development and validation of abrief measure of positive and negative affect: The PANAS scales. J PersSoc Psychol 54:1063–1070.

Welsh MJ, Tsui L-C, Boat TF, Beaudet AL (1995): Cystic fibrosis. InShriver CR, Beaudet AL, Sly WS, Valle D (eds): ‘‘The Metabolic andMolecular Basis of Inherited Disease.’’ New York: McGraw Hill, pp.3799–3878.

Wilfond BS, Fost N (1990): The cystic fibrosis gene: Medical and socialimplications for heterozygote detection. JAMA 263:2777–2783.

Wooldridge EQ, Murray RF Jr (1988): The health orientation scale: A mea-sure of feelings about sickle cell trait. Soc Biol 35:123–136.

Appendix A: Knowledge Test

Please circle whether you agree or disagree with each of thefollowing statements.

Relatives of people with CFhave an increased chance ofcarrying the CF gene.

AGREE DISAGREE1 2

CF affects the spinal cord.There is no treatment for CF.A person who has a single copy of the gene is called a carrier.If a person AND their partner are both CF carriers, then there

is a one in four chance that each of their children will beborn with CF.

Genetic counseling is available for individuals who want todiscuss their test results.

A couple’s chance for having a child with CF disease would bemore accurate if both people were tested for CF carrierstatus.

CF is an infectious disease.People with CF disease are likely to be mentally retarded.If a person AND their partner are both CF carriers, then there

is a 100% chance each of their children will also be carriers.

Appendix B: Satisfaction With Pretest Education and Testing

The next several questions ask for your feelings about beingtested to see if you carry the CF gene and what it was likefor you to get the test done. Please show how much you agreeor disagree with each statement by circling one numberbelow each statement.

I received more information than I wanted about what it meansto be a carrier of the CF gene.Stronglydisagree

Somewhatdisagree

Somewhatagree

Stronglyagree

1 2 3 4

I received less information than I wanted about what it meansto be a carrier of the CF gene.

The information I received about testing for the CF gene wasconfusing.

Getting CF carrier testing was convenient for me.I was uncomfortable giving the sample.All things considered, how satisfied or dissatisfied are you with

your experience of CF carrier testing, so far?Stronglydissatisfied

Somewhatdissatisfied

Somewhatsatisfied

Stronglysatisfied

1 2 3 4

468 Cheuvront et al.