Journal of Genetic Counseling

, Volume 26, Issue 3, pp 594–603 | Cite as

Reproductive Decision-Making in Women with BRCA1/2 Mutations

  • Jessica L. Chan
  • Lauren N. C. Johnson
  • Mary D. Sammel
  • Laura DiGiovanni
  • Chan Voong
  • Susan M. Domchek
  • Clarisa R. Gracia
Original Research


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.


BRCA 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.

Supplementary material

10897_2016_35_MOESM1_ESM.doc (62 kb)
ESM 1 (DOC 62 kb)


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Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  • Jessica L. Chan
    • 1
    • 2
  • Lauren N. C. Johnson
    • 1
    • 3
  • Mary D. Sammel
    • 1
    • 4
  • Laura DiGiovanni
    • 5
    • 6
  • Chan Voong
    • 5
    • 6
  • Susan M. Domchek
    • 5
    • 6
  • Clarisa R. Gracia
    • 1
  1. 1.Department of Obstetrics and GynecologyUniversity of PennsylvaniaPhiladelphiaUSA
  2. 2.Center for Fertility and Reproductive MedicineCedars-Sinai Medical CenterLos AngelesUSA
  3. 3.Reproductive Endocrinology Associates of CharlotteCharlotteUSA
  4. 4.Department of Biostatistics and EpidemiologyUniversity of Pennsylvania Perelman School of MedicinePhiladelphiaUSA
  5. 5.Abramson Cancer CenterUniversity of Pennsylvania Perelman School of MedicinePhiladelphiaUSA
  6. 6.Basser Center for BRCAUniversity of PennsylvaniaPhiladelphiaUSA

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