Knowledge, Attitudes, And Concerns Of Individuals With Cancer-Predisposing Mutations Regarding Fertility Preservation And Preimplantation Genetic Testing.

Hereditary cancer syndrome carriers require vigilant screening to prevent cancer-associated morbidity and mortality. Women who have not completed childbearing may undergo oocyte/embryo cryopreservation, particularly prior to risk-reducing surgery. Preimplantation genetic testing for monogenic disorders (PGT-M) may be used to select unaffected embryos to prevent cancer risk to offspring. The purpose of the study was to survey BRCA carriers' knowledge and opinions on fertility preservation and PGT-M to identify key factors that impact decision-making. Prospective survey A 33-question online survey was conducted between April-May 2018. The survey was publicized to women with hereditary cancer syndromes who subscribed to newsletters/social media posts from a non-profit advocacy group. The survey assessed demographics and reproductive status and investigated respondent knowledge/attitudes regarding diminished ovarian reserve, oocyte/embryo cryopreservation, and PGT-M. Descriptive statistics and binary logistic regression were used. Of the respondents who completed the survey (n=140), 50% were reproductive aged. The majority were college educated (89%) and married (73%), with 20% desiring future children. BRCA 1 (36.2%) and BRCA 2 (46.9%) carriers were most prevalent . Mean age at mutation testing was 41.3 ± 12.8y. Of those that underwent risk reducing surgery (70%), 67% had ovaries removed. PGT-M awareness was higher in younger patients (p=0.02) without cancer (p=0.04). Of those familiar with PGT-M (43.6%), few (17%) stated they would consider using it. Most respondents (69%) were unaware that oocytes cannot undergo PGT-M. Only 16% had consulted with a reproductive endocrinologist (RE) for family planning. Despite this, 44% were aware of fertility preservation and would freeze oocytes/embryos preoperatively. Top concerns included financial burden (69.8%) and psychological distress (48.7%). Individuals with cancer-predisposing mutations are faced with complex challenges that require counseling regarding medical implications, fertility preservation, and PGT-M to prevent transmission to offspring. Our findings show a need for earlier mutation screening to maximize the opportunity for fertility preservation and PGT-M. There is an opportunity to increase patient awareness about reproductive options, particularly by OBGYNs and geneticists who could implement early referral to a RE for counseling. Potential barriers to patients’ accessing available options may be alleviated by promoting access to ART (including IVF-PGT) and by a multidisciplinary approach involving psychological support.