Reproductive Decision-Making in Women with BRCA1/2 Mutations.

Expanded genetic testing of BRCA mutations has led to identification of more reproductive-aged women who test positive for the mutation which might impact attitudes and decisions about relationships, childbearing and the use of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). A cross-sectional survey was administered to 1081 self-reported BRCA carriers to investigate how knowledge of BRCA status influences these issues. The mean age at BRCA test disclosure was 44 years and 36 % reported a personal history of cancer. Of 163 women who were unpartnered, 21.5 % felt more pressure to get married. Of 284 women whose families were not complete, 41 % reported that carrier status impacted their decision to have biological children. Women with a history of cancer were more likely to report that knowledge of BRCA+ status impacted their decision to have a child (OR 1.8, 95 % CI 1-3.2). Fifty-nine percent thought PGD should be offered to mutation carriers and 55.5 % thought PND should be offered. In conclusion, knowledge of BRCA status impacts attitudes regarding relationships and childbearing, and most carriers believe that PGD and PND should be offered to other carriers. This study suggests that BRCA carriers desire and would benefit from reproductive counseling after test disclosure.

Engaging Patients and Other Stakeholders in "Designing for Dissemination" of Record Linkage Methods and Tools.

BACKGROUND: Novel record linkage (RL) methods have the potential to enhance clinical informatics by integrating patient data from multiple sources-including electronic health records, insurance claims, and digital health devices-to inform patient-centered care. Engaging patients and other stakeholders in the use of RL methods in patient-centered outcomes research (PCOR) is a key step in ensuring RL methods are viewed as acceptable, appropriate, and useful. The University of Colorado Record Linkage (CURL) platform empowers the use of RL in PCOR. OBJECTIVES: This study aimed to describe the process of engaging patients and other stakeholders in the design of an RL dissemination package to support the use of RL methods in PCOR. METHODS: Customer discovery, value proposition design, and user experience methods were used to iteratively develop an RL dissemination package that includes animated explainer videos for patients and an RL research planning workbook for researchers. Patients and other stakeholders (researchers, data managers, and regulatory officials) were engaged in the RL dissemination package design. RESULTS: Patient partners emphasized the importance of conveying how RL methods may benefit patients and the rules researchers must follow to protect the privacy and security of patient data. Other stakeholders described accuracy, flexibility, efficiency, and data security compared with other available RL solutions. Dissemination package communication products reflect the value propositions identified by key stakeholders. As prioritized by patients, the animated explainer videos emphasize the data privacy and security processes and procedures employed when performing research using RL. The RL workbook addresses researchers' and data managers' needs to iteratively design RL projects and provides accompanying resources to alleviate leadership and regulatory officials' concerns about data regulation compliance. CONCLUSION: Dissemination products to promote adoption and use of CURL include materials to facilitate patient engagement in RL research and investigator step-by-step decision-making materials about the integration of RL methods in PCOR.

Risk factors for sexual dysfunction in BRCA mutation carriers after risk-reducing salpingo-oophorectomy.

OBJECTIVE: The aim of the study was to identify risk factors for sexual dysfunction in BRCA mutation carriers who have undergone risk-reducing salpingo-oophorectomy (RRSO). METHODS: A cross-sectional study was performed. BRCA1/2 mutation carriers with and without RRSO were surveyed to determine sexual function (Female Sex Function Index [FSFI]), demographics, medical history, sleep quality, depression, and anxiety scores. Characteristics of patients with the lowest quartile of FSFI scores (<14 ±â€Š8.8) were analyzed to identify risk factors for the most severe phenotype. RESULTS: In the 804 women surveyed, 764 underwent RRSO. Of the 529 (69%) carriers with completed FSFI questionnaires in the RRSO cohort, sexual dysfunction was reported in 77.3%. Poor sleep (P = 0.002), hot flashes (P = 0.002), lack of current systemic hormone therapy (HT) use (P = 0.002), depression (P < 0.001), and anxiety (P = 0.001) were associated with sexual dysfunction. In adjusted analyses, depression (adjusted odds ratio [aOR] 2.4, 95% CI, 1.4-4.1) and hot flashes (aOR 1.9, 95% CI, 1.2-3.0) remained significantly associated with sexual dysfunction. Depression was also a significant risk factor for the most severe degree of sexual dysfunction (OR 2.1, 95% CI, 1.3-3.5) and had the greatest impact on Arousal and Satisfaction domain scores of the FSFI. Current systemic HT use seemed to decrease the risk for sexual dysfunction (aOR 0.6, 95% CI, 0.4-1.0). CONCLUSIONS: Sexual dysfunction is highly prevalent in BRCA mutation carriers after RRSO. Depression seems to be a significant risk factor for sexual dysfunction in this patient population and may be under-recognized and undertreated. Patient and provider education on sexual side effects after surgery and risk factors for sexual dysfunction is necessary to decrease postoperative sexual distress. HT may be associated with improved sexual function after surgery.