variants of unknown significance
Researchers described the process they took to adapt their methodology for improved BRCA variant classification through ClinGen in a new study this week.
Breast Cancer Patients With VUS Generally Not Overtreated, Real-World Data Analysis Suggests
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A study drawing on germline genetic testing and claims data showed at ASCO that patients with VUS are, for the most part, managed like they have negative results.
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.
Genomenon Partners With Pharming to Improve Diagnosis of Rare Immunodeficiency Syndrome
The partners will release curated variant data on two genes associated with activated PI3K delta syndrome (APDS) into Genomenon's Mastermind Genomic Intelligence Platform.
Initial findings from the country's 10-year National Precision Medicine program could yield genetic tests tailored to Asian populations within Singapore and abroad.