Ambry
BRCA1/2 Mutations Aren't Equal: Researchers Push for Reduced Penetrance Pathogenic Variant Category
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Researchers worked with two labs to identify 16 consensus lower-risk pathogenic variants and are pushing for greater recognition of such variants.
Ambry Updates Hereditary Cancer Risk Panels With Eye Toward Gene-Disease Validity, Guidelines
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The panels assess genes with strong disease links and clinical management guidelines, but the firm offers limited-evidence genes as an add-on option.
Labs, Doctors Still Grapple With Patient Recontact Despite Streamlined Variant Reclassification
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Although leading labs have coalesced around the value of protocols for making sure updated variant calls get to patients, strategies still vary and practical challenges remain.
Ambry Genetics, Pacific Biosciences to Sequence up to 7K Human Genomes for Rare Disease Study
The firms were selected by the University of California, Irvine and the GREGoR Consortium to support a program to understand the genetic causes of rare diseases.
Cancer Sequencing Labs, Advocacy Groups Partner to Increase Genetic Testing Access
The newly launched INTERACT coalition said it will try to press medical and industry guidelines to keep pace with evidence surrounding inherited cancer risk.