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The software generates reports for pharmacogenomics, rare diseases, predispositions to common diseases, and nutrigenomics.
In an interview, Marilyn Li and Douglas Stewart discuss why ACMG has put forth points that doctors and labs should consider when presumed germline findings crop up in tumor testing.
The bipartisan bill is backed by more than 250 organizations, but ACMG remains opposed, arguing that ordering tests is part of the practice of medicine.
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.
This report contains a quantitative, evidence-based scoring framework to help guide the evaluation of constitutional CNVs across clinical labs.
The genetic disease risk test, which covers 59 genes endorsed by ACMG, is offered through the Helix marketplace and includes genetic counseling services.
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.
As of January the project had returned 290 positive results for CDC Tier 1 conditions from 23,500 participants who had undergone exome sequencing.
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.