This post has been updated to indicate that the NCCN guidelines were first developed 20 years ago.
Invitae's Robert Nussbaum and his colleagues from across the US note that National Comprehensive Cancer Network testing recommendations were first developed about 20 years old to detect BRCA1 and BRCA2 variants through panel testing, and have since gone through rounds of updates. As they report in the Journal of Clinical Oncology, Nussbaum and his colleagues analyzed data from nearly 1,000 breast cancer patients to determine how well the guidelines now function.
About half of these patients met NCCN guidelines to undergo genetic testing. The researchers, though, tested all the patients on an 80-gene panel to find that 83 patients, or 8.65 percent, had a pathogenic or likely pathogenic variant. Not all of these patients, they report, met NCCN guidelines for testing. A little more than 9 percent of patients who met NCCN testing criteria had a pathogenic or likely pathogenic variant, as did about 8 percent of those who did not meet the testing criteria.
"The guidelines need to be changed so that everyone is well-informed on what the first course of treatment is for the patient," Virginia Maurer, chief of the division of breast surgery and director of NYU Winthrop Hospital's Breast Health Program, tells Newsday.