New recommendations suggest all breast cancer patients get genetic testing

The American Society of Breast Surgeons released new guidelines Thursday, Feb. 15, recommending all people diagnosed with breast cancer undergo genetic testing.

The new guidelines are based on a comprehensive review of the “most impactful” evidence in modern literature, data and national guidelines, according to a news release from the society. Most notably, a December study published in the Journal of Clinical Oncology determined breast cancer patients had a comparable number of genetic mutations independent of whether they met National Comprehensive Cancer Network (NCCN) guidelines to receive genetic testing.

The new recommendations are as follows:

  • Breast surgeons and medical professionals with genetic testing knowledge can counsel patients and provide recommendations which include arranging for genetic testing.
  • Genetic testing should be made available to all patients with a personal history of breast cancer.
  • Those who previously underwent genetic testing may benefit from updated testing.
  • Testing should be made available to patients with no history of breast cancer who also meet NCCN guidelines.
  • Pathogenic variants of uncertain significance should be considered inconclusive and are not clinically actionable.

In 2018, according to the National Cancer Institute, an estimated 266,000 new cases of invasive breast cancer were diagnosed in the U.S., resulting in more than 40,000 deaths. Genetic testing can help identify those at an increased risk for developing the disease and allow patients to take action to reduce such risk.

Also factoring into the new recommendations is genetic testing’s wider availability and drop in cost. And as each new guideline for genetic testing comes out, more and more patients meet the criteria for such testing.

“Increased access to testing would likely lead to more patients pursuing testing and improving rates of identification of gene carriers,” according to the recommendations. “Breast surgeons can identify individuals who are suitable for testing, inform patients of the risks and benefits, provide access to genetic testing, and also discuss risk management strategies for those patients who test positive.”

Read the entire set of recommendations here.