ClinVar
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.
The group is mailing pharmacogenetic information back to patients, with plans to deliver genetic disease risk and carrier screening results.
Developmental Disorder, Other Disease Genes Revealed by Mapping Regions Resistant to Change
Researchers used exome data for more than 123,000 individuals to map "constrained coding regions," where disease-related variants are over-represented.