In response to CMS reopening its national coverage determination to address its germline testing policy, stakeholders point out areas of concern and confusion.
Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.
In 125,000 de-identified Invitae customers with and without a personal or family history of cancer, 23andMe's DTC test would have missed almost 90 percent of BRCA mutations.
By focusing too heavily on family history, the Preventive Services Task Force is missing many opportunities for prevention, patient advocates, industry players, and researchers say.
Invitae and Tulane University researchers found 37 percent of patients with positive germline results were not covered by testing guidelines in place at the time.
