title: Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers.
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.
authors.affiliation: Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, 303 E. Superior St, Lurie 10-231, Chicago, IL, USA. allisongoetsch2014@u.northwestern.edu.
authors.forename: Allison L
authors.identifier: 0000-0002-3747-5072
authors.initials: AL
authors.lastname: Goetsch
authors.affiliation: Graduate Program in Genetic Counseling, Northwestern University, Chicago, IL, USA.
authors.forename: Catherine
authors.initials: C
authors.lastname: Wicklund
authors.affiliation: Division of General Internal Medicine and Geriatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
authors.forename: Marla L
authors.initials: ML
authors.lastname: Clayman
authors.affiliation: Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, 303 E. Superior St, Lurie 10-231, Chicago, IL, USA.
authors.forename: Teresa K
authors.initials: TK
authors.lastname: Woodruff
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics; D000072117:Counselors / Q000706:statistics & numerical data; D000072097:Endocrinologists; D005260:Female; D059247:Fertility Preservation; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D018456:Reproductive Medicine; D011795:Surveys and Questionnaires
keywords: BRCA1/2; Fertility preservation; Genetic counseling; Oncofertility; Preimplantation genetic diagnosis