The High Impact Phenotype Identification System (HIPIS) will allow physicians to diagnose and treat genetic conditions in real time. NIH”s National Human Genome Research Institute https://genome.gov, has awarded Geisinger’s https://www.geisinger.org, researchers $5 million.
Determining that a medical condition has a genetic basis can have a significant impact on the course of treatment. The proposed HIPIS will shorten the time between onset of symptoms and discovery of a genetic basis for 13 medical conditions which will improve patient care and outcomes.
According to Marc Williams, MD, Professor at Geisinger’s Genomic Medicine Institute and PI for the project reports, “Complex diseases frustrate patients and create a burden on healthcare systems through multiple hospitalizations and frequent testing. Enabling physicians to access genetic information in real time could prevent much of this burden by eliminating the gap between the onset of symptoms and genetic diagnosis.”
So far, the research team has identified 13 high impact conditions with a high likelihood of having a genetic basis or for which a genetic diagnosis would significantly affect or alter the management of the condition. This includes pediatric epilepsy, heart disease, Type 2 diabetes, and congenital kidney disease among others.
An analysis of Geisinger’s EHRs show that the average time from symptom onset for one of these conditions to diagnosis as a genetic condition is 3.5 years and in some cases can take up to 12 years. This delay in genetic diagnosis can affect the patient’s treatment and overall health outcomes.
Researchers will develop models that can identify patients with documented clinical signs and symptoms of these high impact conditions that will enable healthcare providers to screen for and diagnose a genetic basis in real time. The team will also analyze clinical workflow to determine the best points as to when to present the genetic information to providers.