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

BACKGROUND: 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. OBJECTIVE: 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. STUDY DESIGN: 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. RESULTS: 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. CONCLUSION: 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.

Patient and provider perspectives on telemedicine use in an outpatient gynecologic clinic serving a diverse, low-income population.

OBJECTIVE: To evaluate patient and provider experiences using telemedicine for gynecologic visits among a diverse, low-income population. METHODS: Patients attending telemedicine visits at a resident-run gynecology clinic completed a modified Telemedicine Usability Questionnaire and providers completed a survey addressing satisfaction and barriers for each visit. The Telemedicine Usability Questionnaire included six subscales to assess telemedicine usability with 1-5 Likert-scale responses. Statistical analyses included Chi-square, Fisher's exact, Wilcoxon rank sum, Wilcoxon signed-rank, and two-sample t-test. RESULTS: Of 192 patients enrolled, 157 (82%) completed the surveys (87% video visits, 13% telephone visits). Most patients were ethnic minorities (non-Hispanic White-16%, Hispanic-32%, Black-28%, Asian-10%), median age was 40 years (range 18-69), and 63% reported income under $40,000. The total mean Telemedicine Usability Questionnaire score was 4.3/5. The reliability subscale score (3.72/5) was lower compared to all other subscales (p < 0.001). Older respondents were more likely to find telemedicine unreliable (mean age >44 vs <39, p = 0.02). Without telemedicine, 54% would have traveled ≥1 h to appointments, with 46% spending over $35 on travel, and 27% missing ≥ 1 workday. Patients preferred telemedicine for follow-up rather than initial visits (81% vs 33%, p < 0.01). Among providers, residents felt less adequately trained in telemedicine compared to nurse practitioners and fellows (54% vs 46%, p = 0.039). CONCLUSION: Low-income women utilizing telemedicine for outpatient gynecologic care report positive experiences with improved access to healthcare, cost, and time savings compared to in-person visits. Provider experiences were also positive; however, teaching hospitals must evaluate whether trainee providers feel adequately trained to deliver telemedicine visits.