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.Â
Natera Minimal Residual Disease Test Predicts Oligometastatic CRC Patient Outcomes in New Study
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Investigators analyzed blood samples from patients at two time points after curative-intent surgery, finding that ctDNA MRD status was highly predictive of outcome.
ACMG Updates Carrier Screening Recommendations for Autosomal Recessive, X-Linked Conditions
The updated ACMG guidelines on carrier screening recommended a consistent and more equitable approach to testing.
ACMG Recommends Sequencing as Test for Children With Intellectual Disability, Congenital Anomalies
An American College of Medical Genetics and Genomics working group conducted a systematic review of the literature to develop its recommendation.
Pacific Biosciences, Rady Children's Collaborate on Study of WGS-Based Rare Disease Dx
The study, already underway, will use PacBio's HiFi long-read sequencing in cases of rare disease where other sequencing approaches did not provide a diagnosis.
Personal Genome Diagnostics Inks Cancer Genomic Profiling Deal with Duke University Health System
Under the deal, DUHS will establish PGDx's next-generation sequencing-based Elio Tissue Complete platform for the genomic profiling of cancer in its lab.