Proactive Outreach and Streamlined Genetic Testing in Prostate Cancer Survivors - In this era of rapidly expanding genetic testing and precision oncology, identification of germline pathogenic variants (PV) is crucial to customize cancer treatment and guide primary and secondary prevention. Research has increasingly shown that germline PVs in DNA-repair genes are common and clinically significant in prostate cancer (PCa) patients. PCa patients who carry a germline PV in a cancer susceptibility gene have more aggressive disease and are at risk for second primary cancers. Increasingly, germline genetic status is used to tailor treatment for PCa. Further, a patient’s germline genetic status has critical implications for his family members who may be at risk for a variety of cancers. Given the significance for treatment and prevention, genetic referral guidelines for PCa patients were established and have recently broadened considerably. This has not only led to a large increase in the number of new PCa patients who are candidates for genetic testing, but has also resulted in a large proportion of the more than three million men living with PCa to retroactively become eligible for testing. Despite the clinical utility of genetic testing and clear referral guidelines, few PCa patients and survivors have been tested, leaving an enormous number of patients and their families unaware of their potentially increased risk. This low rate of testing reflects lack of referrals, awareness, and access to specialty genetic services. Indeed, the reliance on direct referral to specialty genetic settings is itself a barrier to the receipt of guideline consistent genetic testing in this population given the national shortage of genetics specialists. Given the importance of extending the benefits of genetic testing to PCa patients and their families, alternative strategies are needed that empower patients, reduce barriers, expand access, and foster informed decisions while accommodating increased demand and conserving scarce genetic counseling resources. Using electronic health records to identify untested PCa survivors who meet genetic testing criteria, we will contact, enroll and randomize 500 survivors in a trial testing whether proactive and streamlined genetic education delivered in lieu of standard genetic counseling can increase genetic testing uptake. By streamlining genetic education and testing, we can positively impact outcomes in patients and their families while conserving the resources of genetic specialty settings. We will compare: 1) enhanced usual care consisting of a clinical letter and physician genetic counseling referral (EUC); 2) streamlined and proactive print genetic education consisting of print genetic education, proactively mailed genetic test kit, and optional genetic counseling (Print+); and 3) streamlined and proactive genetic education consisting of a digital guide, proactively mailed genetic test kit, and optional genetic counseling (DG+). This approach will allow us to evaluate the impact of proactive and streamlined delivery of genetic services and compare two strategies for delivery of streamlined genetic education and testing. Study results will inform the delivery of genetic services in cancer survivor populations and serve as a model for developing population health approaches to genetic service delivery.
