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Genomics: Clinical Implementation

This channel includes news headlines and educational resources regarding the clinical implementation of genomics assays, including development, validation, quality control, standardization, and the practical and commercial considerations for labs adopting these tests. 

Yale researchers said that they anticipate their RNA extraction-free saliva assay will make testing more scalable, affordable, and available to the public.

In one study, the UK-based firm found that its RaDaR assay detected circulating tumor DNA in lung cancer patients up to a year before standard clinical progression occurred in most of the cases. 

Comprehensive analysis by a team led by Elaine Mardis has given 93 percent of around 150 pediatric cancer patients at least one medically actionable finding.

The technique, called INVAR, applies error-suppression methods and signal enrichment to analyze hundreds of loci to detect circulating tumor DNA in blood samples.

Researchers identified secondary or incidental findings in just over 3 percent of the nearly 22,000 EMERGE III participants, who were profiled with a 109-gene panel.