Streamlined Genetic Testing in Prostate Cancer

Genetic testing is part of clinical care for women with breast and ovarian cancer. Guidelines have led to increasing genetic testing participation among eligible women. Identifying pathogenic variants (PVs) in cancer susceptibility genes has important treatment, management and risk reduction implications for patients and their family members. Men are just as likely as women to carry a PV in a cancer risk gene and men with prostate cancer are at particularly high risk for carrying a PV. NCCN guidelines recommend germline genetic testing in men with metastatic prostate cancer or with Gleason 7+ prostate cancer. These guidelines are likely to expand given recent studies suggesting that 17% of prostate cancer patients may harbor a cancer susceptibility PV and that current referral criteria miss many of these patients. Prostate cancer patients with a PV in BRCA1 or BRCA2 (BRCA) have more aggressive prostate cancers, are at risk for other primary cancers (e.g., male breast and pancreatic) and their family members are at risk for a variety of cancers. Thus, genetic testing of prostate cancer patients has implications for treatment, management, and risk reduction for the patient and his family members.

Despite these benefits and existing referral guidelines, few men with prostate cancer are tested. This reflects low genetic counseling referral and participation, since men who attend genetic counseling get tested at the same high rate as women. Low participation is likely due to underestimation of the personal health relevance of testing and lack of physician genetic counseling referral. Thus, the requirement to obtain individual genetic counseling prior to genetic testing may be a barrier to the receipt of guideline consistent genetic testing. Recent evidence suggests that traditional comprehensive, patient-centered, educationally focused pre-test genetic counseling often does not match the needs of patients. Further, as genetic referral guidelines continue to expand, demand for genetic counseling will outstrip delivery capacity. Thus, alternative approaches that raise awareness and facilitate access to genetic testing are needed to maximize our ability to extend the benefits of testing to prostate cancer patients and their family members while at the same time accommodating increased demand and conserving scarce genetic counseling resources.

We will test a proactive and streamlined pre-test genetic education (ST) print intervention designed to speed, simplify and target genetic testing delivery for prostate cancer patients. Participants randomized to ST will have the option to proceed directly to genetic testing bypassing traditional pre-test genetic counseling. Usual care (UC) participants will be informed that they meet guidelines for genetic counseling referral and will be provided with contact information to schedule a standard telephone pre-test genetic counseling session. All participants with a PV or variant of uncertain significance (VUS) will be scheduled for a telephone genetic counseling disclosure session. ST participants who are found not to carry a PV or VUS will have this result disclosed via clinical letter while disclosure for all UC participants will be per standard clinical care by the genetic counselor by phone. By proactively identifying eligible patients, providing streamlined information and facilitating genetic testing, the ST intervention will increase awareness, facilitate informed testing decisions, remove the barrier of pre-test genetic counseling and improve genetic testing delivery capacity.

We will enroll eligible prostate patients diagnosed from 2010-2019 who are being followed within radiation and medical oncology clinics at the MedStar Georgetown University Hospital and MedStar Washington Hospital Center. Our specific aims are:

1. Evaluate the impact of ST vs. UC on genetic testing uptake. H1.1: Patients randomized to ST will be more likely to complete genetic testing compared to UC. H1.2: Participants randomized to ST will make better informed genetic testing decisions (characterized by high knowledge, risk comprehension and concordance with attitudes) compared to UC. H1.3: Few patients in the ST arm will opt for traditional genetic counseling prior to testing.
2. Evaluate patient satisfaction and psychosocial outcomes in ST vs. UC. H2.1: Compared to UC, those randomized to ST will be more satisfied with their genetic testing decision and will have less decisional regret.
3. Evaluate the impact of ST vs. UC on uptake of cascade testing in unaffected family members. In exploratory analyses designed to provide effect size estimates, we will compare the arms on rates of genetic testing in relatives of patients found to carry a PV.