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.
A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.
A Color Genomics collaborator reported that nearly half of first-degree relatives who were invited for reduced-cost testing in cancer-related genes opted to participate.
Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.