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.
ACMG Statement Says Preimplantation Polygenic Risk Testing 'Not Appropriate for Clinical Use' Yet
Overall, the organization remains skeptical of the clinical implementation of PRS testing, pointing to limitations of the tests and a lack of evidence for their clinical utility.
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.