ACMG
Researchers described the process they took to adapt their methodology for improved BRCA variant classification through ClinGen in a new study this week.
Early IDENTIFY Trial Results Suggest Half of Women With Non-Reportable NIPT Result Have Cancer
At the American College of Medical Genetics and Genomics annual meeting, NICHD Director Diana Bianchi reported that whole-body MRI was the best follow-up test to confirm or rule out cancer.
ACMG Workgroup Addresses Cancer Risk Variability With CHEK2 Alterations in Practice Resource
The workgroup reviewed the available evidence and recommended clinicians manage patients based on the type of variants they have along with family history and other factors.
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.