Five-year genetic data project may ultimately empower hospitals to provide better precision medicine treatments
Hospital administrators will want to monitor new research being performed by Geisinger Health System that will use genetic testing to speed up how common diseases are diagnosed.
Using a $4.9 million grant, Geisinger researchers will develop a High Impact Phenotype Identification System (HIPIS) that shortens the time for diagnosing common diseases that have a genetic cause, enabling physicians to respond more quickly to these conditions.
The recently announced grant from the National Institute of Health’s National Human Genome Research Institute (NHGRI) covers a five-year research period and focuses on using genomics for diagnosing disease. Led by Marc Williams, MD, professor at Geisinger’s Genomic Medicine Institute, researchers will develop genetic test panels that clinicians can use to quickly diagnose complex diseases and provide timely, personalized treatment.
“Complex diseases frustrate patients and create a burden on healthcare systems with multiple inpatient hospitalizations and frequent testing,” Williams 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.”
Long Waits for Diagnoses
Geisinger announced that the research project would focus on 13 “high-impact” conditions that have a genetic basis. These include heart disease, type 2 diabetes, pediatric epilepsy, congenital kidney disease, and more.
Geisinger noted that the average time it takes to recognize these conditions as genetic is about three and a half years once symptoms begin, and that diagnosis can take over a decade for some patients. By creating genetic testing panels, physicians would be able to quickly diagnose the genetic basis of these conditions, allowing patients to receive precision medicine treatments more quickly.
In the NHGRI grant submission, Williams outlined the benefits of his project.
“We want to develop a system that would identify patients who could benefit from accessing their existing genetic information,” he wrote. “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.”
To conduct this research, Geisinger will examine data from its MyCode DNA sequencing program. This forward-looking initiative was started in 2014 and offers Geisinger patients the opportunity to provide a sample of their DNA for research purposes. Geisinger is then able to associate each patient’s medical records with genetic information, gaining valuable insights into the clinical implications of an individual’s genetic features. So far, at least 150,000 patients are included in this database.
Database Can Feed Genetic Research
Hospital leaders who understand the advantages that precision medicine offers for their patients will benefit from both following Geisinger’s new research initiative, specifically, as well as other precision medicine research using this large genetic database.
Additionally, administrators should evaluate the model that Geisinger set up to enable these types of research projects and consider establishing a similar genetic database for their own research initiatives.
National Institute of Health’s National Human Genome Research Institute (NHGRI)
Geisinger awarded $5 million to develop diagnostic tool for genetic disorders
MyCode hits another milestone; 150,000 signed up
MyCode Community Health Initiative
Real-time genetic diagnosis at the point of care