Alexandra Sokolova, MD
Oregon Health & Science University (OHSU)
Mentors: Bruce Montgomery, MD, Heather Cheng, MD, PhD
Cascade Genetic Testing in Prostate Cancer: Evaluating and Overcoming Barriers
Description:
Approximately 12% of patients with metastatic prostate cancer have inherited mutations in DNA damage repair genes that likely contributed to the development of their cancer. This has significant implications not only for treatment decisions but for cancer prevention and early detection strategies in the families of these patients.
If a patient has inherited a mutation, there is a one-in-two (50%) risk that their children or siblings inherited the same mutation and have a higher risk for developing certain types of cancers. Therefore, there are recommendations for increased cancer screening and possibly risk-reduction surgery for people with some inherited mutations.
“Cascade genetic testing” is recommended for relatives of patients that carry heritable cancer risk mutations. However, the current paradigm in which patients who carry these genes are encouraged to advise their relatives to undergo cascade genetic testing without direct assistance from genetics providers, has put the burden on the patient and may contribute to low uptake of genetic testing in family members.
Dr. Alexandra Sokolova’s project will test a provider-initiated testing procedure for cascade genetic testing of family members of Veterans with prostate cancer who carry heritable prostate cancer risk mutations. In this paradigm, providers contact relatives for testing.
Prostate cancer patients in the VA who carry heritable prostate cancer risk mutations will be randomized to provider-initiated vs. patient-initiated cascade genetic testing.
Whether provider-initiated cascade genetic testing results in higher numbers of individuals who complete testing, less distress, and higher satisfaction, will be evaluated.
The barriers to each approach will be determined, including the impact of any barriers associated with ethnicity, income, and education. The costs of each approach will also be compared.
If successful, the provider-initiated procedure will result in a more effective and less costly cascade testing, and cause less stress to patients and their families.
What this means to patients: Approximately 12% of patients with metastatic prostate cancer carry heritable mutations that contributed to their disease. Relatives of these patients are encouraged to get genetic testing to determine their own carrier status. Dr. Sokolova and team will develop provider-initiated cascade genetic testing measures as an effort to increase the numbers of family members who get tested, which will ultimately improve cancer prevention in families with inherited cancer syndromes and improve equity and equality in access to cascade genetic testing.