News on sequencing-based testing, NGS gene panels, & diagnostic exomes in genetics, genomics, and molecular diagnostics.
Thermo Fisher Scientific's IonTorrent Genexus platform can provide cancer panel results in about a day, but data on clinical impact of the fast turnaround has not yet been produced.
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.
Protein-Truncating Variants Confer Schizophrenia Risk Across Human Populations
A recent study also found two new genes involved in schizophrenia risk that could become potential therapeutic targets.
Most Patients With Inherited Heart Conditions Not Getting Guideline-Backed Genetic Testing
Researchers analyzed electronic health and claims records to discover very low genetic testing rates among patients with five inherited cardiovascular conditions.