ClinVar
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.
The company, infamous and long derided in the genetic testing community for refusing to share BRCA1/2 variants, has decided to change its stance as part of a "strategic transformation."
If the Center for Genomic Interpretation's in silico quality assessment catches on with payors, some labs are sure to push back or propose data sharing as an alternative.
Highmark Asks Labs for Additional Validation Data on Cancer NGS Tests; Will Other Insurers Follow?
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The payor wants to see data beyond what is required through CLIA, and recommends labs use the Center for Genomic Interpretation to gauge how well tests detect and interpret variants.
Genetic Testing Challenges in Oncology: BRCA1 Variant Downgraded After Risk-Reducing Surgery
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.