Huma Q. Rana

Video Education Is an Acceptable Alternative to Pretest Genetic Counseling for Patients With Breast, Ovarian, Pancreatic, and Metastatic Prostate Cancer: Results From a Randomized Study

PURPOSE With increased demand for cancer genetic testing (GT), providers are exploring alternative service delivery models such as video education (VE). We compare the uptake of GT among 250 patients with breast, ovarian, pancreatic, or metastatic prostate cancer randomly assigned to receive either pretest VE or a pretest visit with a genetic counselor (GC). MATERIALS AND METHODS Using a 3:1 ratio, 187 patients were randomly assigned to the VE arm and 63 patients to the GC arm. GT was arranged after participants either watched an informative video (VE arm) or met with a GC (GC arm). Satisfaction, knowledge, distress, decisional regret, and family communication were assessed as secondary study end points. RESULTS Participants were age 39-88 years with no significant demographic differences between the two arms. In the VE arm, 170 (90.95%) participants completed GT versus 49 (77.8%) in the GC arm ( P = .01). The dropout rate before the pretest visit was higher in the GC arm compared with the VE arm: 10 (15.9%) versus 9 (4.8%). In the GC arm, 97.4% of participants felt all questions and concerns had been addressed compared with 66.9% of the VE arm ( P < .0001). Of the 219 participants tested, 29 (13.2%) had a pathogenic or likely pathogenic variant. CONCLUSION In this study, there was high acceptance of VE and it led to better GT uptake compared with the GC arm. However, it will be important for programs using VE to build-in more opportunities for patients to ask questions. Pretest VE is a viable option for patients with cancer who need their germline genetic test results to help guide surgical and medical decisions.

Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata

Abstract Women with germline pathogenic variants (PV) in the fumarate hydratase (FH) gene develop cutaneous and uterine leiomyomata and have an increased risk of developing aggressive renal cell carcinomas. Many of these women are unaware of their cancer predisposition until an atypical uterine leiomyoma is diagnosed during a myomectomy or hysterectomy, making a streamlined genetic counseling process after a pathology-based atypical uterine leiomyoma diagnosis critical. However, the prevalence of germline pathogenic/likely PVs in FH among atypical uterine leiomyomata cases is unknown. To better understand FH germline PV prevalence and current patterns of genetic counseling and germline genetic testing, we undertook a retrospective review of atypical uterine leiomyomata cases at a single large center. We compared clinical characteristics between the FH PV, FH wild-type (WT), and unknown genetic testing cohorts. Of the 144 cases with atypical uterine leiomyomata with evaluable clinical data, only 49 (34%) had documented genetic test results, and 12 (8.3%) had a germline FH PV. There were 48 IHC-defined FH-deficient cases, of which 41 (85%) had FH testing and nine had a germline FH PV, representing 22% of the tested cohort and 18.8% of the FH-deficient cohort. Germline FH PVs were present in 8.3% of evaluable patients, representing 24.5% of the cohort that completed genetic testing. These data highlight the disconnect between pathology and genetic counseling, and help to refine risk estimates that can be used when counseling patients with atypical uterine leiomyomata. Prevention Relevance: Women diagnosed with fumarate hydratase (FH)-deficient uterine leiomyomata are at increased risk of renal cancer. This work suggests a more standardized pathology-genetic counseling referral pathway for these patients, and that research on underlying causes of FH-deficient uterine leiomyomata in the absence of germline FH pathogenic/likely pathogenic variants is needed.