Study: Genetic testing guidelines for breast cancer are outdated

Genetic testing guidelines for breast cancer are out-of-date and miss nearly half of patients diagnosed with the malignancy, doctors found in a new analysis of who gets tested and who doesn't.

Health insurance companies and government payers base how they reimburse patients for tests and procedures on existing . Genetic testing recommendations for breast are two decades old, established by the National Comprehensive Cancer Network, a group of 28 cancer centers nationwide.

The guidelines focus on two well-known breast cancer mutations—BRCA 1 and BRCA 2—which were discovered in the 1990s. Since then, dozens of other genes related to breast cancer have been found, and if patients do not undergo appropriate genetic screening, they may not receive appropriate care for their form of the disease, doctors said in the report published in the current issue of the Journal of Clinical Oncology.

Ten percent to 15 percent of about 250,000 women diagnosed annually in the United States with breast cancer have some type of genetic flaw, according to the American Cancer Society. A very small percentage of men develop breast cancer, usually stemming from a BRCA 2 mutation.

"The guidelines are very limited and need to be changed," said Hillary Rutter, executive director of the Adelphi Statewide Breast Cancer Hotline & Support Program in Garden City.

Rutter added that the recommendations are rooted in dated science at a time when dozens of other cancer-related genes not only have been found, but can be revealed in newer tests.

Long after the discovery of BRCA 1 and BRCA 2, scientists identified a dozen other key gene mutations related to breast cancer, as well as 25 or so genetic variants that are related to multiple forms of cancer, including . As many as 80 cancer-related genes can be revealed in full-panel screening tests.

Costs for genetic screening have dropped substantially in recent years, from more than $3,000 for BRCA 1 and BRCA 2 screening to about $300 for the broader panel of tests.


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