Reproductive Decision-Making in Women with BRCA1/2 Mutations
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Expanded genetic testing of BRCA mutations has led to identification of more reproductive-aged women who test positive for the mutation which might impact attitudes and decisions about relationships, childbearing and the use of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). A cross-sectional survey was administered to 1081 self-reported BRCA carriers to investigate how knowledge of BRCA status influences these issues. The mean age at BRCA test disclosure was 44 years and 36 % reported a personal history of cancer. Of 163 women who were unpartnered, 21.5 % felt more pressure to get married. Of 284 women whose families were not complete, 41 % reported that carrier status impacted their decision to have biological children. Women with a history of cancer were more likely to report that knowledge of BRCA+ status impacted their decision to have a child (OR 1.8, 95 % CI 1–3.2). Fifty-nine percent thought PGD should be offered to mutation carriers and 55.5 % thought PND should be offered. In conclusion, knowledge of BRCA status impacts attitudes regarding relationships and childbearing, and most carriers believe that PGD and PND should be offered to other carriers. This study suggests that BRCA carriers desire and would benefit from reproductive counseling after test disclosure.
KeywordsBRCA BRCA1 BRCA2 Fertility preservation Genetic counseling Preimplantation genetic diagnosis Prenatal diagnosis Reproductive decisions
This research was supported by the National Institutes of Health (Grant numbers: R01-HD-062797-05- Dr. Gracia, T32 HD007440- Drs. Chan and Johnson), the Basser Center for BRCA research (Dr. Domchek) and the Susan B. Komen Foundation (Dr. Domchek). We would also like to acknowledge the community of FORCE for participation in this research.
Compliance with Ethical Standards
Human Studies and Informed Consent
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all participants for being including in the study.
Conflict of Interest
The authors declare that they have no conflict of interest.
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