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ACMG

Amid rapid adoption of multi-gene panels, ACMG experts are seeing some doctors and patients taking actions they shouldn't.

Absent sufficient evidence to support genetic testing for all patients, the group recommended following existing guidelines, which are based on clinical factors.

A case series in partnership with My Gene Counsel to highlight the challenges genetics professionals and oncologists are grappling with as genetic testing is increasingly used in patient care. 

At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.

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.

A NorthShore University HealthSystem and Color pilot picked up pathogenic variants in nearly 9 percent of unselected individuals with a hereditary cancer gene test.

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.

The recommendations were developed by a working group of the AMP Clinical Practice Committee that included representatives from ACMG, ASCO, and CAP.