Jesse Brewer

Can we talk about sex? Feasibility of universal sexual health screening for BRCA1/2 patients

Abstract Background Risk-reducing salpingo-oophorectomy for ovarian cancer risk reduction in individuals with BRCA1/2 pathogenic variants can cause sexual dysfunction, yet sexual health discussions between patients and providers remain limited. Aim We describe the feasibility of universal sexual health screening and rates of sexual health dysfunction among individuals with BRCA1/2 pathogenic variants. Methods Patients with BRCA1/2 pathogenic variants presenting to an outpatient gynecologic oncology clinic from January 2022 to February 2023 were offered a sexual health screener. The screener combined a validated, single-item sexual dysfunction assessment with three additional questions exploring discussions of sexual health with healthcare providers, desire for information about sexual health, and preferred methods for delivery of information. Outcomes The primary outcome was the proportion of patients who completed the sexual health screener and the secondary outcomes included rate of sexual dysfunction and impact of patient characteristics on sexual dysfunction. Results Among 103 patients offered the sexual health screening, 100% completed it. Median age was 42 years (range 25-84). Eighty three (81%) patients self-identified as White, 32 (31%) patients had a history of cancer, 42 (41%) had undergone risk-reducing salpingo-oophorectomy, and 47 (46%) were pre-menopausal. Thirty seven (36%) patients screened positive for sexual dysfunction. Among patients with premature menopause following salpingo-oophorectomy, 6/15 (40%) on hormone replacement therapy reported sexual dysfunction versus 6/10 (60%) not on hormone replacement therapy (P = .43). Across all patients, 38 (37%) had never previously discussed sexual health concerns with a provider. There were no significant differences in sexual dysfunction rates based on any measured patient characteristics. Clinical Implications Universal sexual health screening for individuals with BRCA1/2 pathogenic variants is feasible and may provide an avenue for more in-depth discussion with at-risk patients, who may not have previously discussed this issue with their medical team. Strengths and Limitations Our study found that it was feasible to administer a sexual health screening tool among an at-risk patient population in a clinical setting. Generalizability may be limited due to the composition of our cohort, which was small, majority White and non-Hispanic, and from a single institution. Conclusion Providers should consider implementing standardized sexual health screening practices among patients with BRCA1/2 pathogenic variants. Research highlights

Cost-effectiveness of BRCA1 testing at time of obstetrical prenatal carrier screening for cancer prevention

Improved technologies paired with an increase in access to genetic testing have led to the availability of expanded carrier screening evaluating hundreds of disorders. Currently, most autosomal dominant mutations, such as BRCA1, are not included in expanded carrier assays. Screening pregnant or preconception reproductive-aged women for BRCA1 may present a unique opportunity to perform population-based screening for patients at a time when precancer screening, chemoprevention, and/or risk-reducing surgery may be beneficial. This study aimed to inform clinical decision-making as to whether the universal incorporation of BRCA1 testing at the time of obstetrical prenatal carrier screening is cost-effective. A decision analysis and Markov model was created. The initial decision point in the model was BRCA1 testing at the time of expanded carrier screening. Model probabilities, cost, and utility values were derived from published literature. For BRCA1-positive patients, the model simulated breast cancer screening and risk-reducing surgical interventions. A cycle length of 1 year and a time horizon of 47 years were used to simulate the lifespan of patients. The setting was obstetrical clinics in the United States, and the participants were a theoretical cohort of 1,429,074 pregnant patients who annually underwent expanded carrier screening. Among our cohort, BRCA1 testing resulted in the identification of an additional 3716 BRCA1-positive patients, the prevention of 1394 breast and ovarian cancer cases, and 1084 fewer deaths. BRCA1 testing was a cost-effective strategy compared with no BRCA1 testing with an incremental cost-effectiveness ratio of $86,001 per quality-adjusted life years. In a 1-way sensitivity analysis, we varied the prevalence of BRCA1 in the population from 0.00% to 20.00% and found that BRCA1 testing continued to be the cost-effective strategy until the prevalence rate was reduced to 0.16%. Multiple additional sensitivity analyses did not substantially affect the cost-effectiveness. The addition of BRCA1 testing to obstetrical prenatal carrier screening is a cost-effective management strategy to identify at-risk women at a time when cancer screening and preventive strategies can be effective. Despite the burden of additional genetic counseling, prenatal care represents a unique opportunity to implement population-based genetic testing.