National Public Radio recently reported on a new debate in the world of breast cancer: a new study recommending that all women get tested for genetic mutations that may cause breast cancer.
The recommendation and study come from Mary-Claire King, PhD, who in the Journal of the American Medical Association, calls for population-based screenings for BRCA1 and BRCA2, also known as the “breast cancer genes.” (Women who have mutations on these genes are more likely to get breast or ovarian cancer).
Dr. King’s statement is based on a study that she and her colleagues ran in Israel. They tested 8,000 healthy Ashkenazi Jewish men for the three mutations in BRCA1 and BRCA2. Testing was done irrespective of personal or family history of cancer. Further testing was done on the families of men who tested positive. They found high cancer rates among female relatives. As the families were NOT selected for testing because they had cancer, Dr. King suggests that population screening would be helpful to best identify those most at risk – because family history isn’t always the best clue to who should be tested.
While Dr. King proposes an interesting idea, there are big questions that loom:
- Cost. BRCA1 and BRCA2 gene sequencing costs thousands of dollars compared to the gene panel done in Dr. King’s study. Who will pay for this testing?
- Knowledge. While we know much about the mutations in BRCA1 and BRCA2, there are many mutations that we do not yet know how to interpret. These are called “variants of uncertain significance.” How will we ensure that test results are interpreted properly?
- It’s not just BRCA1 and BRCA2. There are more genes than BRCA1 and BRCA2 that cause hereditary or familial breast cancer. I worry about the false reassurance for those people who test negative, but have a family history of cancer. We would need to ensure that individuals with a family history of cancer get the right recommendations for screening and prevention.
This is an exciting time in genetics and personalized medicine. We have made some incredible advances. Yet, we have many questions to answer. Until we do that, we recommend that people who are at high risk for cancer speak to our team at the Familial Cancer Program about their options and our services to them, which include risk assessments, genetic testing, and counseling. Individuals at high risk include:
- Those who have had a cancer diagnosis at a young age;
- Those who have a strong family history of cancers of the same type;
- Those with multiple primary cancers; and
- Those with multiple primary tumors in difference or the same organs.
Learn more about the Familiar Cancer Program at Fletcher Allen Health Care.
Marie Wood, MD, is the director of the Familial Cancer Program at The University of Vermont Medical Center and The University of Vermont Cancer Center. She is also a professor at the Larner College of Medicine at UVM.