New ACMG Policy Statement on Genetic Testing for Women with Breast Cancer

By Eleanor Griffith, MS, CGC · Dec 2019

The American College of Medical Genetics and Genomics (ACMG) released a new policy statement asking: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? ACMG's short answer: there is currently "insufficient evidence to support genetic testing for all patients with breast cancer, especially with multigene panels that include genes without evidence to support follow-up care."

What ACMG Does Emphasize

ACMG makes the important point that, despite BRCA testing being available for over two decades, we are still falling far short of testing the many individuals who do meet established criteria. It has been estimated that fewer than 10% of all adults with BRCA1/2 pathogenic variants in the United States have been identified. Among cancer patients, fewer than 20% of those with breast or ovarian cancer who meet national criteria actually undergo testing — with rates disproportionately lower among racial and ethnic minority populations.

Context: A Response to ASBS

This policy statement can be seen as a response to the American Society of Breast Surgeons' guideline update earlier in 2019, which recommended that genetic testing be made available to all women with a personal history of breast cancer. ACMG stresses that all patients with breast cancer should be evaluated to determine whether germline testing is appropriate — but stops short of endorsing universal testing regardless of clinical history. NCCN guidelines, updated the same week, note there is less than 2.5% probability that testing will have clinical utility for women diagnosed with breast cancer over age 65 with no relevant family history.