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Geisinger Wins $5M NIH Grant to Develop Point-of-Care Genetic Diagnostic Tool

NEW YORK – Pennsylvania-based Geisinger Health System said on Thursday that it has received a $5 million grant from the National Institutes of Health's National Human Genome Research Institute to develop a diagnostic tool to help identify patients who would most benefit from genetic testing for select genetic disorders.

The proposed High Impact Phenotype Identification System, or HIPIS, will shorten the time between symptom onset and genetic diagnosis for 13 "high-impact" conditions, for which a genetic diagnosis would significantly affect therapy. Conditions include pediatric epilepsy, heart disease, type 2 diabetes, and congenital kidney disease, among others.

"Complex diseases frustrate patients and create a burden on healthcare systems through multiple hospitalizations and frequent testing," Marc Williams, professor at Geisinger's Genomic Medicine Institute and principal investigator for the project, said in a statement. "Enabling physicians to access genetic information in real time could prevent much of this burden by eliminating the gap between onset of symptoms and genetic diagnosis."

An analysis of Geisinger's electronic health records indicated that it takes patients an average of 3.5 years from symptom onset to find a diagnosis for the 13 conditions and that it could take some patients as many as 12 years, delaying treatment and leading to poorer health outcomes.

Geisinger has access to genetic sequencing data of approximately 150,000 patients, from which it hopes to identify phenotype terms that can guide healthcare practitioners toward genetic resources and workflows that optimize care and patient outcomes.

To accomplish this, Geisinger aims to rapidly identify patients with candidate conditions, analyze their genomic sequence data, and return these results to both patient and provider, giving both parties the "appropriate information to guide condition-specific care."

The HIPIS targets the first of those aims, after which Geisinger intends to develop the Dynamic Virtual Genetic Panels for real-time genetic screening and diagnosis, followed by a clinical workflow analysis aimed at determining the best points at which to present genetic information to providers.

The NIH also recently awarded Geisinger a $3.6 million grant to develop tools to improve cancer screening and care though expanding the list of known cancer-related genetic risk variants.

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