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variants of unknown significance

The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.

The development is a positive for plaintiff Amy Williams, who has said she hopes her lawsuit will spur greater accountability and transparency among genetic testing labs.

Though the South Carolina Supreme Court said Quest was a healthcare provider, Williams can try to keep her case alive by arguing she's alleging ordinary negligence.

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 court's determination is critical to deciding if Williams v Quest/Athena can advance or if it must be dismissed on statute of repose grounds. 

The clinicals labs contributing to the database are adding more case-level data and focusing on outlier interpretations.

Elisha Cooke-Moore, from a small town in Oregon, claims her doctors never showed her the test report or offered her genetic counseling to explain the results.

Despite years of experience of returning genetic test results, clinicians and researchers are still faced with many questions, such as what to do about VUS and secondary findings.

In Williams v Quest/Athena, a federal district court judge has asked the highest state court to clarify if a genetic testing lab is a licensed healthcare provider.

Judge Margaret Seymour held a hearing to better understand the facts of the case before deciding whether it should go forward.

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