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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. 

A Personalized Medicine Coalition-funded study has found that NGS-based testing is moderately cost effective but that access to targeted treatments remains a hurdle. 

Researchers tracked down monogenic risk variants, carriers, disease culprits, and more for 50 individuals with cardiomyopathy and 50 unaffected participants.

Presentations at this month's ASCO meeting demonstrated how efforts are advancing to determine when and how longitudinal ctDNA testing will be useful for oncologists.

An Australian team developed a decision model for testing asymptomatic relatives of patients with dilated cardiomyopathy to assess the cost effectiveness of testing.

The organizations provided a list of genes they believe are informative in treatment of myeloid disorders and suggested several changes to the coverage policy.