Patient experiences with genetic testing
Full article: https://jamanetwork.com/journals/jama/article-abstract/2600457
Patients can now find out if they have a mutation in more than 20 different genes that are associated with cancer risk, thanks to research advances and the decreasing cost of genetic testing. However, patients’ experiences and use of genetic counseling and testing with these changes are unknown. Do patients want genetic testing? Are they getting tested? (3/7/17)
The National Comprehensive Cancer Network is a consortium of experts in cancer and genetics. They publish consensus guidelines for genetic testing for inherited mutations that increase cancer risk. Their guidelines for genetic testing for people diagnosed with breast cancer include:
- breast cancer of any type (including ductal carcinoma in situ or DCIS) diagnosed before age 50
- breast cancer in both breasts or a second breast cancer in the same breast
- triple-negative (ER-/PR-/Her2-) breast cancer before age 60
- Ashkenazi (Eastern European) Jewish ethnicity
- relatives with breast, ovarian, pancreatic, prostate or melanoma cancer
- men with breast cancer
For people with HER2-negative, metastatic breast cancer, NCCN recommends BRCA testing before starting on chemotherapy to see if there may be benefit from treatment with a PARP inhibitor.
According to NCCN, cancer risk assessment and genetic counseling is highly recommended before genetic testing is offered (pre-test counseling) and after results are disclosed (post-test counseling). A genetic counselor, medical geneticist, oncologist, surgeon, oncology nurse, or other health professional with expertise and experience in cancer genetics should be involved early in the counseling of patients.
Questions To Ask Your Health Care Provider
- Should I have genetic testing?
- How can I tell if cancer runs in my family?
- I had breast cancer before age 50 and I have a strong family history of cancer, but I tested negative for a BRCA mutation. Should I consider expanded panel testing?
- Can you refer me to a genetic counselor?
Open Clinical Trials
- NCT03470402: Decision Support for BRCA Testing in Ethnically Diverse Women. The objective of this study is to expand genetic testing for hereditary breast and ovarian cancer syndrome to a broader population of high-risk women by prompting appropriate referrals from the primary care setting with the use of an electronic health record-embedded breast cancer risk navigation (BNAV) tool.
- NCT03511690:Testing an Intelligent Tutoring System to Enhance Genetic Risk Assessment. Participating in genetic cancer risk assessments (GCRA) for hereditary breast and ovarian cancer can inform treatment and risk management decisions and improve breast cancer outcomes. However, Latina and Black women underuse GCRA services, which may increase breast cancer disparities. This study will adapt and test the impact of an easily scalable novel Intelligent Tutoring System intervention to enhance GCRA use and improve psychosocial outcomes in a clinical sample of underserved Latina and Black women at-risk of hereditary breast and ovarian cancer.
FORCE is a national nonprofit organization, established in 1999. Our mission is to improve the lives of individuals and families affected by adult hereditary cancers.