NIH-funded registry of patient-entered genetic data goes live

Geisinger Health System has added another component to the genomic variant database it is helping to create as part of a $25 million National Institutes of Health (NIH) initiative. The new addition gives patients the option to submit their genetic test results and other health information to a registry.

Data uploaded by patients will be shared with NIH's $25 million Clinical Genome Resource (ClinGen) and two repositories maintained by the National Center for Biotechnology Information (NCBI). Adding the patient information to clinical laboratory data and other existing resources is expected to boost researchers' ability to understand the effects of genetic variants.

"A data repository ... is just the first piece of the pie when it comes to fully understanding the role genetics play in the prevention of disease and the development of treatments and therapies," said Geisinger's director of policy and education Andrew Faucett said in a statement. As well as submitting genetic test results, patients can complete questionnaires and interact with each other.

Health data stored in the primary GenomeConnect repository will be linked to personal information, but this resource is only accessible by approved registry staff. The GenomeConnect team will unlink genetic and personal data before sharing information with the partner databases. One of the partner databases--the NIH-funded ClinVar--is available to the public.

The Geisinger project is one of several database initiatives to emerge in recent weeks. As well as the aggregations of whole-genome and exome data reported on last week, the Simons Foundation has teamed with NextCODE Health to share an autism repository. The initiative is using NextCODE's IT infrastructure to make data from 10,000 exomes available.

- read the release
- here's HealthITAnalytics' take
- and NextCODE's news