Genetic Testing Guidelines "Not Helpful" in Breast Cancer, Study Shows

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Three-quarters of patients who did not meet the guidelines for testing had a variant for which established clinical management recommendations were available.
Three-quarters of patients who did not meet the guidelines for testing had a variant for which established clinical management recommendations were available.

Maryam Nemati Shafaee, MD, an assistant professor in the Dan L Duncan Comprehensive Cancer Center at Baylor College of Medicine, Houston, Texas, agreed with the study conclusions (she was also not involved in the study). “The argument that they're making for testing everyone is very valid and timely because not only would we be able to potentially diagnose patients earlier and intervene, but the test is also reasonably priced,” Dr Shafaee told Cancer Therapy Advisor.

The cost of genetic testing can be as low as $250 per test, but despite this, the NCCN guidelines need to be updated to include universal genetic testing of breast cancer patients if insurance companies are to pay for the service. “If it's in the guidelines, [insurers] may or may not cover it — but if it's not in the guidelines, it's not going to be covered,” Dr Beitsch said. 

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Patient-reported outcomes were not investigated in this study, but Dr Beitsch and his colleagues are planning to capture how patients with breast cancer feel about universal genetic testing in a future study; a protocol is currently underway.

“Guidelines may end up changing,” Dr Shafaee said. “But we'll have to see.” 

Disclosure: The study was sponsored by Invitae. For a full list of disclosures, please refer to the original study. 

References

  1. Beitsch P, Whitworth P, Grady I, et al. Underdiagnosis of hereditary breast cancer: Are genetic testing guidelines a tool or an obstacle? Poster presentation at: 2018 San Antonio Breast Cancer Symposium; December 4-8, 2018; San Antonio, TX. Abstract P5-09-03. 
  2. Beitsch PD, Whitworth PW, Hughes K, et al. Underdiagnosis of hereditary breast cancer: Are genetic testing guidelines a tool or an obstacle? [published online December 7, 2018]. J Clin Oncol. doi: 10.1200/JCO.18.01631
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