variant classification
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.
At the American College of Medical Genetics and Genomics annual meeting, members of two working groups provided an early look at new versions of the existing standards.
AMP, NSGC Issue New Recommendations for Confirming Germline Variants From NGS Tests
The guidelines are the product of a working group convened by the Association for Molecular Pathology that assessed the literature, surveys, and public comment.
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.