Thirty million people in the U.S. are living with a rare disease, nearly 10% of the population, and nearly two-thirds of those affected are children. As genetic information becomes more commonly collected and stored as part of routine clinical care, it is important to consider the value this information has on stratifying patients at risk for a multitude of conditions.
The Center for Digital Genomic Medicine uses electronic health record (EHR) data to identify patients diagnosed with a genetic disease and curate the clinical features associated with that diagnosis. This has enabled the development of new approaches such as Systematic Identification for Genetic Health Testing (SIGHT) to identify these patients earlier and understand what features contribute to delayed diagnosis.
Efforts are underway in the Center for Digital Genomic Medicine to expand these resources and methods and directly test them in prospective randomized clinical trials to assess their ability impact the care for patients suffereing from rare diseases.