New ACMG Policy Statement Related to Genetic Testing for Women with Breast Cancer

Last week, the American College of Medical Genetics and Genomics (ACMG) released a new policy statement, “Is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients?”

AMCG’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.”

ACMG also makes the point that, despite BRCA testing being clinically available for over two decades, as a society, we are currently not doing a good job of testing the many individuals who do meet established criteria for BRCA.

It has been estimated that less than 10% of all adults with BRCA1/2 P/LP variants in the United States have been identified.5 Among cancer patients, recent data suggest that less than 20% of patients with breast or ovarian cancer who meet national criteria for inherited cancer testing actually undergo testingoften due to lack of identification of high-risk patients and provider recommendations. Moreover, testing rates are disproportionately lower among racial/ethnic minority populations. Consequently, there remains a tremendous unmet need to improve identification and testing among high-risk populations and reduce existing barriers for these patients to access testing.

This policy statement is not a guideline and does not offer any new or different recommendations. Rather, it can be seen as a response to the American Society of Breast Surgeon’s guideline updates from earlier this year, which recommended that “genetic testing should be made available to all patients with a personal history of breast cancer.”

ACMG stresses that all patients with breast cancer should be evaluated “to determine the need for germline genetic testing for hereditary breast cancer and points to NCCN Practice Guidelines, which were also updated earlier this month and also make the point that there is a low (<2.5% probability) “that testing will have clinical utility for women diagnosed with breast cancer over the age of 65 with no close relatives with breast, ovarian, pancreatic, or prostate cancer.”

The ACMG policy statement also very briefly addresses the idea of general population screening, making the case that there are multiple issues as well as knowledge gaps that need to be addressed before any implementation of population-based screening, particularly if multi-gene panels are used.

For Patients

  • If you have a personal or family history of breast cancer, ovarian cancer, pancreatic cancer, or aggressive prostate cancer, you may meet criteria for hereditary cancer testing—even if a doctor has never offered you testing. 
  • Insurance coverage policies tend to follow NCCN guidelines and testing for individuals who meet certain established criteria is often covered by insurance. 
    • If your insurance will not cover the cost of genetic testing for you, relatively low-cost testing options that are still high quality are available and could be considered. Consult with a genetic counselor or another healthcare professional who is knowledgeable about the quality differences in genetic testing to make sure any testing you have ordered is highly accurate.
  • Meeting with a genetic counselor can help you to understand all your options as well as the implications of any test results for you and your family members. You can schedule a telehealth cancer genetic counseling appointment online here

For Healthcare Providers

  • Whether you care for patients with current diagnoses of breast cancer or have breast cancer survivors in your practice, many of these women meet criteria for hereditary cancer testing. Review NCCN guidelines and take a family history! 
  • If you have a genetic counselor within your hospital or medical practice, reach out to them to talk about when and how to refer patients and how you can work together better.
  • Looking for more support for your practice to keep up with all the rapid changes in genetics? Grey Genetics can customize a support plan that is tailored to the needs of your practice. Provide us with some information about your practice needs by filling out this form, or just send us an email

Do you meet genetic testing criteria for hereditary breast cancer risk?