Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers

Abstract

Women with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 or BRCA2) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer screening and risk-reduction options, healthy BRCA mutation carriers of childbearing age may choose to preclude passing the mutation to the next generation. In the current study, we report on preimplantation genetic diagnosis (PGD) practices in BRCA-positive Israeli women who were offered PGD at no cost. Methods: we measured PGD uptake, decision satisfaction or regret, and predictors of uptake. Of the 70 participant female carriers, only 25.7% chose to use PGD to prevent transmission of the mutation, and were not predicted by age or religious affiliation. For those who chose IVF/PGD, satisfaction with the decision regarding IVF and PGD was significantly higher than those who did not have IVF and PGD (p < 0.04). Experiencing previous infertility was the only significant predictor of uptake of IVF/PGD (p < 0.001), which may suggest that BRCA status is secondary to infertility in the decision-making process for PGD in women with a BRCA mutation.

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Acknowledgements

The authors wish to thank the couples who participated in our study and Aviva Yoselis of Viva Research Institute for her editorial assistance.

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Correspondence to Pnina Mor.

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Pnina Mor, Sarah Brennenstuhl, and Kelly A Metcalfe declare that they have no conflict of interest.

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 individual participants included in the study.

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This article does not contain any studies with animals performed by any of the authors.

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Mor, P., Brennenstuhl, S. & Metcalfe, K.A. Uptake of Preimplantation Genetic Diagnosis in Female BRCA1 and BRCA2 Mutation Carriers. J Genet Counsel 27, 1386–1394 (2018). https://doi.org/10.1007/s10897-018-0264-2

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Keywords

  • BRCA mutations
  • Predictors
  • Preimplantation genetic diagnosis (PGD)
  • Psychosocial
  • Legal and ethical
  • Genetic counseling
  • Uptake