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. 

In a poster presented at AMIA, just one-third of IGNITE participants had external structured genomic test results in their EHRs to inform clinical decision support.

Researchers investigated the possibility of picking up intra-tumor genetic heterogeneity in tumor exomes, identifying false-positives and technical noise.

A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.

Precipio said that its ICE COLD-PCR reagents will be sold with PerkinElmer's DNA/RNA extraction and isolation products.

Early results from preemptive genomic testing are raising questions about the prevalence and penetrance of pathogenic variants, and who is pursuing such testing.