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.
ACMG Panel Discusses Potential, Pitfalls of Precision Medicine Following Newborn Screening
The panel focused on access and equity issues of precision medicine, especially ones that arise as sequencing is folded into newborn screening programs.
ACMG: Rare Disease Patients in Poor Countries See Benefit from Clinical Whole-Genome Sequencing
Patients in Illumina's global iHope philanthropic clinical WGS program saw changes in their management regardless of whether they lived in wealthy or poor countries.
Healthy Oregon Project Reports at ACMG on Population Genetic Screening Efforts
The project has screened more than 17,000 participants for inherited genetic disorders, particularly hereditary cancer syndromes and familial hypercholesterolemia.
With $8 million in seed funding, Droplet is developing a test for minimal residual disease detection in head and neck cancer, with research ongoing for other promising targets.
At ACMG, GUARDIAN Newborn Sequencing Study Reports High Uptake Rate
The researchers have already identified babies with G6PD deficiency who would have been missed by standard newborn screening.
