التفاصيل البيبلوغرافية
| العنوان: |
Factors Determining Dissemination of Results and Uptake of Genetic Testing in Families with Known BRCA1/2Mutations. |
| المؤلفون: |
Esme Finlay1,2, Jill E. Stopfer2, Eric Burlingame2, Katherine Goldfeder Evans2, Katherine L. Nathanson2,3, Barbara L. Weber4, Katrina Armstrong2,5, Timothy R. Rebbeck2,5, Susan M. Domchek1,2 |
| المصدر: |
Genetic Testing. Mar2008, Vol. 12 Issue 1, p81-91. 11p. |
| مصطلحات موضوعية: |
*CANCER invasiveness, *HUMAN chromosome abnormality diagnosis, *GENETIC mutation, *GENETIC counseling |
| مستخلص: |
Background: Uptake of genetic testing remains low, even in families with known BRCA1and BRCA2(BRCA1/2) mutations, despite effective interventions to reduce risk. We report disclosure and uptake patterns by BRCA1/2-positive individuals to at-risk relatives, in the setting of no-cost genetic counseling and testing. Methods: Relatives of BRCA1/2-positive individuals were offered cost-free and confidential genetic counseling and testing. If positive for a BRCA1/2mutation, participants were eligible to complete a survey about their disclosure of mutation status and the subsequent uptake of genetic testing by at-risk family members. Results: One hundred and fifteen of 142 eligible individuals responded to the survey (81). Eighty-eight (77) of those surveyed disclosed results to all at-risk relatives. Disclosure to first-degree relatives (FDRs) was higher than to second-degree relatives (SDRs) and third-degree relatives (TDR) (95 vs. 78; p< 0.01). Disclosure rates to male versus female relatives were similar, but reported completion of genetic testing was higher among female versus male FDRs (73 vs. 49; p< 0.01) and SDRs (68 vs. 43; p< 0.01), and among members of maternal versus paternal lineages (63 vs. 0; p< 0.01). Men were more likely than women to express general difficulty discussing positive BCRA1/2results with at-risk family members (90 vs. 70; p0.03), while women reported more emotional distress associated with disclosure than men (48 vs. 13; p< 0.01). Discussion: We report a very high rate of disclosure of genetic testing information to at-risk relatives. However, uptake of genetic testing among at-risk individuals was low despite cost-free testing services, particularly in men, SDRs, and members of paternal lineages. The complete lack of testing among paternally related at-risk individuals and the lower testing uptake among men signify a significant barrier to testing and a challenge for genetic counselors and physicians working with high-risk groups. Further research is necessary to ensure that family members understand their risk and the potential benefits of genetic counseling. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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