Genetic Testing Advances

Q: What recent progress has been made in genetic testing for breast cancer?

A: Genetic testing has improved greatly in recent years. Since the 1990s we’ve known about BRCA1 and BRCA2 genes, which are associated with higher risks of breast, ovarian and other cancers. We’ve now learned that patients with different forms of cancer who inherited mutations in one of these genes can benefit from a new form of oral anti-cancer treatments, called PARP inhibitors. Research has also highlighted that a strong family history of cancer is not always a reliable factor for limiting testing to those select few genes. Today a much-increased level of genetic testing is available. These advances have raised the value of testing for more patients, even in cases where there is not a strong family history of cancer. Also, the cost of testing is about one-tenth of what it was a decade ago. All of these developments are making genetic evaluation increasingly important to the care of patients with cancer. For some cancer patients, genetic testing can also help other family members. People who have not had cancer but who carry the same gene mutations as a family member who has cancer can become eligible for intensive screening tests and preventative measures, which could ultimately save their lives. Genetic counselors have special training to help patients and their families understand these matters and guide appropriate testing.