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Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers

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  • Published:
Journal of Genetic Counseling

Abstract

Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists’ (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies.

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Acknowledgments

The authors would like to thank the study participants for their involvement; Jacqueline S. Jeruss, MD, Eve C. Feinberg, MD, and Taya Fallen, MS for their assistance and input; Northwestern University’s Graduate Program in Genetic Counseling for their support; and NIH/NICHD grant P50HD076188.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, 303 E. Superior St, Lurie 10-231, Chicago, IL, USA

    Allison L. Goetsch & Teresa K. Woodruff

  2. Graduate Program in Genetic Counseling, Northwestern University, Chicago, IL, USA

    Catherine Wicklund

  3. Division of General Internal Medicine and Geriatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

    Marla L. Clayman

Authors
  1. Allison L. Goetsch
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  2. Catherine Wicklund
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  3. Marla L. Clayman
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  4. Teresa K. Woodruff
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Correspondence to Allison L. Goetsch.

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Note that the data analyzed in this paper represents a portion of the primary data collected and that two analyses were conducted independently.

Conflict of Interest

Allison L Goetsch, Catherine Wicklund, Marla Clayman, and Teresa K Woodruff declare that they have no conflict of interest.

Human Studies and Informed Consent

No human studies were carried out by the authors for this article

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No animal studies were carried out by the authors for this article

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Goetsch, A.L., Wicklund, C., Clayman, M.L. et al. Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers. J Genet Counsel 25, 561–571 (2016). https://doi.org/10.1007/s10897-015-9908-7

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  • DOI: https://doi.org/10.1007/s10897-015-9908-7

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