The Cystic Fibrosis Gene: Medical and Social Implications for Heterozygote Detection

Wilfond, Benjamin S.; Fost, Norman

doi:10.1001/jama.1990.03440200081027

Cited by 133 publications

(32 citation statements)

References 59 publications

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“…Many opinions have been expressed concerning possible untoward outcomes of population CF carrier screening [Beaudet, 1990;Gilbert, 1990;Wilfond and Fost, 1990;Kaplan et al, 1991;Kerem and Lynch, 1991;Biesecker et al, 1992;Scriver and Fujiwara, 1992]. Concerns include the fact that currently available carrier testing fails to detect all carriers, that patients may receive inadequate pretest education and hence not give truly informed consent, that the anxiety created may be out of proportion to the actual risk, that carriers may suffer stigmatization and discrimination, that nonpaternity may be detected, that the large size of the target population may create a demand for services that exceeds the supply, that the expense of the test may swell health costs, and that societal pressure not to bear affected offspring may arise and unwarranted amniocenteses and pregnancy terminations may result.…”

Section: Introductionmentioning

confidence: 99%

Carrier screening for cystic fibrosis: Test acceptance and one year follow-up

1997

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We identified 124 carriers among 4,879 patients of prenatal care providers in the Rochester region. Six factors were identified that together permitted a correct classification regarding test acceptance for 77.5% of all subjects. For those pregnant, the most influential of these factors was a more accepting attitude toward abortion. As an indication for abortion, cystic fibrosis (CF) ranked between mild and moderate mental retardation. Of the 124 carrier women identified, we obtained 1-year follow-up information on 100. Mean score for CF knowledge at 1 year (77.4 +/- 13.2%), although significantly lower than immediately after counseling (84 +/- 12.4%), was still significantly higher than after detection but before counseling (51.1% +/- 20.7%). Anxiety about having a child with CF significantly declined from 25.8 +/- 8.0 SD immediately after counseling to 18.9 +/- 7.8 at 1 year (Spielberger State Anxiety Scale). Although 15 carriers regretted having been tested, 83% believed that they benefited from testing, 83% would make the same decision to be tested over again, and 79% would recommend testing to a friend. We conclude that, for most women, CF carrier screening accomplished its purpose: most carriers detected came for counseling, had their partners tested, and, if their partners were also carriers, had prenatal diagnosis. The major undesirable outcomes were that many women testing negative did not understand that a negative result did not exclude being a carrier and that three women found to be carriers did not have their partners tested because of anxiety or the unacceptability of pregnancy termination and therefore may not have carefully considered their decision to be tested. Both of these undesirable outcomes could have been avoided by greater attention to pretest patient education by the primary care provider.

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Section: Introductionmentioning

confidence: 99%

Carrier screening for cystic fibrosis: Test acceptance and one year follow-up

1997

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“…There is widespread agreement that carrier testing should be offered to individuals with a family history of CF or to relatives of an identified CF carrier. However, views differ greatly about the desirability of starting population-based screening programs for CE A number of review articles have summarised the pro's and con's of community screening (Beaudet 1990, Wilfond & Fost 1990, Modell 1992, Williamson 1993, Modell 1993. They also refer to two very important lessons that have been learnt from the sickle cell and Tay Sachs screening programs in the seventies: participation should be voluntary and confidential, and public education is vital (U.S. Congress Office of Technology Assessment 1992).…”

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confidence: 99%

A stigmatizing effect of the carrier status for cystic fibrosis?

Evers‐Kiebooms¹,

Denayer²,

Welkenhuysen³

et al. 1994

Clinical Genetics

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The emotional impact of carrier detection for CF was assessed in a group of adults tested before 1992. Of the 200 adults who received a mailed questionnaire, 70% participated. One third were CF gene carriers. The Health Orientation Scale (HOS) was used to evaluate perceived feelings about three situations: (a) How would you describe your feelings about yourself when you consider your test result? (b) How do you think most people feel when they are told that they carry the CF gene? (c) How do you think most people feel when they are told that they do not carry the CF gene? Comparing the profiles of CF carriers and non‐carriers, we found that carriers had significantly less positive feelings about themselves than non‐carriers. Carriers as well as non‐carriers attribute significantly more negative feelings to most carriers of the CF gene than to most non‐carriers. Moreover, carriers of the Cf gene attribute more negative feelings to other CF carriers than to themselves. Analysis of variance revealed a significant effect of carrier status on self‐description, as well as a significant effect of carrier status and degree of kinship with a CF patient on feelings attributed to most carriers. Although these results suggest some danger of stigmatization of CF carriers, the cognitive bias of ‘illusory superiority’ seems to counterbalance some of its effects.

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“…The implementation of genetic screening, for example for cystic fibrosis, is controversial (Wilfond and Fost, 1990;Scriver and Fujiwara, 1992). As a result of the Human Genome Initiative, more tests for presymptomatic states and carrier states will become available.…”

Section: Background Discussionmentioning

confidence: 99%

Implications of human genome research: Impact on graduate education in genetic counseling

Biesecker¹,

Vockley²,

Conover

1993

Journal of Genetic Counseling

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A conference of genetic counseling and clinical nurse specialist graduate program directors was hosted by the National Society of Genetic Counselors and funded by the Ethical, Legal, and Social Implications Program of the National Center for Human Genome Research in June 1992. One aspect of the conference addressed implications of the Human Genome Initiative for graduate education in genetic counseling. Within this paper, the topics of human variation and diversity, genetic discrimination, issues in non‐directiveness, and genetic screening and policy development are reviewed and recommendations made for graduate curricula development and enhancement. In addition, suggestions are included for practicing genetic counselors.

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The Cystic Fibrosis Gene: Medical and Social Implications for Heterozygote Detection

Cited by 133 publications

References 59 publications

Carrier screening for cystic fibrosis: Test acceptance and one year follow-up

Carrier screening for cystic fibrosis: Test acceptance and one year follow-up

A stigmatizing effect of the carrier status for cystic fibrosis?

Implications of human genome research: Impact on graduate education in genetic counseling

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