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Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations
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While neither common nor rare, discrepant variant classification can affect the management of patient care, and there are efforts to improve interpretations.
Ambry Genetics, Lightbeam Health Solutions Form Genetic Testing Data Partnership
The collaboration is aimed at helping various organizations to predict patients' increased risk for common cancers and chronic conditions.
Konica Minolta Precision Medicine, Amazon Web Services Partner for Diagnostic Data Platform
Under the five-year agreement, Amazon has made an undisclosed investment in KMPM and is supporting the firm's Lattice integrated diagnostic data platform.
BRCA2 Variants of Unknown Significance Reclassified Through Functional Data Additions
Researchers reclassified 86 percent of variants initially determined to be VUS, potentially changing surveillance or treatment approaches for patients.
Ambry Genetics Gets FDA Emergency Use Authorization for Coronavirus Test
The test uses primers and probes from Thermo Fisher Scientific's authorized TaqPath COVID-19 Combo Kit with a modified results interpretation algorithm.