NorthShore Partners with Genetics Testing Lab to Fast-Track Personalized Medicine

NorthShore University HealthSystem’s Center for Personalized Medicine and Ambry Genetics, a clinical genetics-testing lab, are partnering up to offer genetic testing and research in a step towards advancing precision medicine in preventive care.

Specifically, Aliso Viejo, Calif.-based Ambry is collaborating with NorthShore’s Genomic Health Initiative (GHI) by performing whole exome sequencing (WES) on 10,000 enrolled patients and compiling their sequencing data and electronic medical record (EMR) data in an IRB-approved (internal review board) study. According to officials of the organizations involved, GHI is a comprehensive genomic research program designed to investigate genetic variations (DNA mutations) that may contribute to certain conditions affecting NorthShore (Evanston, Ill.) patients. The results of these analyses may lead to new insights into the relationship between genetic variation and disease.

This partnership looks to bring a paradigm shift regarding the role hospitals play in the future of genomic medicine. The collaboration’s aim is to empower clinicians with innovative diagnostic tools and data interpretation to galvanize a new era of precision medicine that can be a blueprint for hospitals broadly. The collaboration centers on NorthShore’s advanced EMR system integration and the dissemination and coordination of genetic testing to healthcare providers, from primary care to obstetrician gynecologists to cardiologists. When appropriate, cases will be referred to NorthShore’s network of sub-specialized genetic counseling clinics, according to officials.

With a prevention-minded approach, another initiative of the partnership is to implement and utilize a genetic risk score (GRS), which summarizes a person’s genetic predisposition to disease using aggregated data from multiple risk variants. The GRS test was developed by NorthShore researcher Jianfeng Xu, in order to provide primary care physicians with a quantitative tool to better understand and stratify risk of disease.  The initial focus is to offer the GRS test for prostate cancer and then expand to other conditions.

“Preventing and managing disease through scientific excellence and high-quality care is the cornerstone of this partnership,” said Aaron Elliott, Ph.D., CEO, Ambry Genetics, said in a statement. “NorthShore and Ambry share the same patient-first philosophy and focus on scientific innovation to improve the future of healthcare.”