Q&A: Forthcoming tool will use genetics to help eliminate ‘diagnostic odyssey’

Geisinger Health System is working to develop a tool that it said will dramatically lower the time it takes to diagnose rare conditions with a genetic cause.
The Pennsylvania-based health system said it received a $5 million grant from the NIH’s National Human Genome Research Institute for its work on the tool.
Some of the diseases the tool will initially help diagnose include heritable CVD, single-gene type 2 diabetes and congenital kidney disease, Marc Williams, MD, a professor at Geisinger’s Genomic Medicine Institute and principal investigator on the project, told (Read more...)

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