Leveraging Tumor Registries and Pathology Specimens to Facilitate Genetic Testing and Tracebackfor Ovarian Cancer
Summary: An estimated 1 in 190 women carry a pathogenic variant in BRCA1/2, which is associated with a 46-57% risk of breast cancer and 20-40% risk of ovarian cancer by age 70. Carriers account for 10% and 15% of breast and ovarian cancer cases, respectively, and up to 20% of high-grade serous ovarian cancer cases, the most aggressive subtype. Despite recommendations that all ovarian cancer cases should receive genetic counseling and testing, irrespective of family history and age at onset, a recent national study indicated that only 10% of cases underwent genetic testing. This represents a missed opportunity to inform these women and their at-risk family members about their future cancer risk. Our multidisciplinary team marshals expertise in bioethics, genetic epidemiology, genomic medicine, biostatistics, health communication, and medical genetics to address the ethical, regulatory, and scientific challenges to address challenges in applying a traceback testing approach to retrospectively identify women who have a prior diagnosis of ovarian cancer. This study generates evidence on the feasibility of traceback testing using tumor registries and archived pathology samples that are critically important to guide the future implementation of such programs beyond ovarian cancer.