20 d’agost 2018

Population-based genomic medicine in an integrated learning health care system

Patient-Centered Precision Health In A Learning Health Care System:Geisinger’s Genomic Medicine Experience
The Path to Routine Genomic Screening in Health Care
Medicine's future

If you want to know a latest development on the implementation of precision health, then Geisinger Health System is the place you have to go. And the Health Affairs article explains the details about the initiative and MyCode biorepository.
In 2014 the MyCode initiative began to conduct whole exome sequencing and  genotyping on collected samples, as part of a collaboration with Regeneron Pharmaceuticals and the Regeneron Genetics Center.12 Whole exome sequencing analyzes genes that code for proteins and associated gene regulatory areas—about 1–2 percent of the whole genome containing the most clinically relevant information. To date, nearly 93,000 exome sequences have been completed.
 The rapidly changing knowledge about gene-disease associations requires a process to reanalyze previously analyzed sequences and incorporate new knowledge about variants’ pathogenicity. Approximately 3.5 percent of participants have a reportable variant. As of January 2018, results had been reported to over 500 MyCode patient participants.
Interesting article, a private initiative of public interest. More info in: Science and Annals