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


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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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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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.

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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).

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  • Oncofertility
  • Fertility preservation
  • BRCA1/2
  • Preimplantation genetic diagnosis
  • Genetic counseling