News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
Genetic Causes of Three Rare Diseases Identified From UK 100K Genomes Data by Mount Sinai-led Team
The study is one of the largest on rare diseases and could pave the way for better diagnosis and treatments, according to the researchers.
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.
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.
In a bid to expand recognition and treatment of alpha-1 antitrypsin deficiency, a cause of COPD, Grifols is making its over-the-counter genetic test available for free.