R01HG011799

Real-Time Genetic Diagnosis at the Point of Care - Summary

The burden on patients and caregivers when complex diseases arise creates a taxing toll for both families and healthcare systems. Multiple inpatient hospitalizations and various testing procedures often bring more unknowns and grief to an already difficult situation.

Hospital visits disrupt patient schedules and also place unnecessary burdens on a healthcare system whose purpose is to maximize the health outcomes of the patients. These complex diseases utilize extra visits and unnecessary testing. We want to develop a system that would identify patients who could benefit from accessing their existing genetic information.

Physicians may struggle to understand the correct time to order genetic testing, and with the rapid pace of change within the genetics field, many physicians are not utilizing the genetic testing that is available at an appropriate time. Genetic testing also requires hospital resources from a limited pool of workers, thus every patient that presents as a complex case may not be a suitable candidate for genetic testing.

Identifying which patients should be accessing their genetic information requires an innovative approach. At Geisinger, we have a cohort of 150,000 patients who have been sequenced and we currently have their genetic data. We propose starting with the patients' clinical presentations that are currently charted into an electronic health record to identify phenotype terms that would trigger genetic resources to be available. These genetic resources would include workflows that show optimal points of impact for the patients to improve healthcare outcomes.

To realize this vision, we have identified three areas that we would like to address. First, the identification of patients with a candidate condition in real time, followed by a concurrent bioinformatic analysis of the genomic sequence data. Finally, we want to address returning the genetic test result to the provider and patient so that both parties have the appropriate information to guide condition-specific care.

In order to address these three needs, we have developed three specific aims with the experts at Geisinger in mind for implementation.

Aim 1: Development of a High Impact Phenotype Identification System (HIPIS).
Aim 2: Develop Dynamic Virtual Genetic Panels (DVGP) for real-time genetic diagnosis.
Aim 3: Analysis of clinical workflows for optimal point of care integration of real-time genetic diagnosis.

Collaboration with Geisinger experts as well as experts in human phenotyping (Peter Robinson) will increase understanding about integrating genetic information into patient care. This transformation will allow the work of many experts in various fields to be sitting at the fingertips of primary care physicians while researching the best direction for complex diseases.

Geisinger Clinic

NOT APPLICABLE

93.172 - Human Genome Research

National Human Genome Research Institute (NHGRI) [HHS - NIH]

Danville, Pennsylvania 178229800 United States

Single Zip Code

Advancing Genomic Medicine Research (Clinical Trial Optional) (R01) (RFA-HG-20-036)

Amendment Since initial award the End Date has been extended from 05/31/26 to 08/31/26 and the total obligations have increased 373% from $975,703 to $4,619,886.