The team analyzed multigene panel test data from Ambry Genetics for 165,000 individuals, focusing on hereditary cancer risk related to 32 genes in six cancer types.
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.
The American Society of Breast Surgeons updated consensus guidelines to recommend multigene panel testing for patients with cancer, including those who were tested many years ago.
The company will compete by continuing product improvements, ramping up marketing presence, and launching an app to improve doctor and consumer engagement.
A review of Myriad Genetics' results over 10 years revealed that a significant proportion of variant calls were reclassified at some point.
The Center for Genomic Interpretation and NSGC want payors to cover confirmatory testing for patients with positive results from 23andMe's FDA-cleared test.
The firm reported selling more billable tests in Q1 than any previous quarter and said that it is starting to see momentum in new initiatives, such as carrier screening.
A study of more than 5,000 breast cancer patients found that multi-gene sequencing has rapidly replaced BRCA1/2-only tests, resulting in better pathogenic variant detection but also higher VUS rates.
The pilot builds off the MyCode Community Research Health Initiative, for which Regeneron has been sequencing the exomes of Geisinger participants.
The firm will provide its genetic testing, counseling, and cascade screening to patients seen at a group of US health systems, focusing on CDC Tier 1 conditions.