ASBrS 2018: Are Current Genetic Testing Guidelines for Breast Cancer Too Restrictive?
Posted: Monday, May 14, 2018
Based on the findings of two studies presented at the 2018 Annual Meeting of the American Society of Breast Surgeons (ASBrS), current restrictive genetic testing guidelines exclude many women who have high-risk breast cancer mutations. The authors of both studies—Peter Beitsch, MD, of the Targeted Medical Education (TME) Breast Care Network, Dallas, and genetic counselor Jennifer Axilbund, MS, of Invitae, San Francisco—indicate that guidelines predate today’s more sophisticated BRCA1/2 and multigene testing and strongly emphasize the need for revised testing criteria.
In the first study (Abstract 402910), patients with breast cancer who did not meet genetic testing guidelines set by the National Comprehensive Cancer Network (NCCN) had a similar percentage of pathogenic or likely pathogenic mutations compared with those who did meet the guidelines. Data were evaluated from the TME Breast Care Network’s Universal Genetic Testing Registry for patients who had no prior genetic testing, and participants underwent 80-gene panel testing for genetic variants with a known association to breast and/or other cancers. Of the 602 patients with breast cancer studied, 46.6% met the NCCN criteria; of those who did not, more than 42% possessed pathogenic or likely pathogenic mutations.
Dr. Beitsch and colleagues concluded: “Current guidelines are detrimental to identifying patients with pathogenic/likely pathogenic mutations and should be abandoned.”
In the second related study (Abstract 404340), Dr. Axilbund and her team evaluated nearly 2,000 Medicare patients referred by physicians for BRCA1/2 and other optional breast cancer–related genetic testing. Of them, 1,216 (76.2%) met the testing guidelines, and 474 (23.8%) did not. In an analysis of patients testing positive for BRCA1/2 variants, the investigators found no statistical difference between Medicare qualifiers and nonqualifiers; similar results were observed when testing for other breast cancer–related mutations as well.
In an ASBrS news release, Dr. Axilbund noted: “Under Medicare criteria, almost half of all patients with actionable variant genes are missed.”