Leveraging PCORnet® to Advance Clinical Genetics and the Genomic Learning Health System

Scientific advances and cost efficiencies in genetics and genomics are expanding clinical application for prevention, diagnosis, and treatment.

PCORnet®, a research network that includes participation from 78 health systems nationally and is linked to more than 47 million unique patients with at least one encounter annually, can help (1) understand the ability of genetics/genomics to predict health outcomes, (2) identify diseases impacted by genetic/genomic factors, (3) evaluate pharmacogenomics' role in medication optimization, (4) evaluate emerging gene therapies, and (5) compare clinical genetic or genomic strategies within learning health systems to improve outcomes, while (6) facilitating patient and other partner engagement across these areas.

The breadth of data accessible via PCORnet represents a unique opportunity to study relationships among genetic markers and clinical and exposome-based disease risk factors, particularly as more genomic data become available. The network's experience developing computable phenotypes for identifying specific diseases can be leveraged to evaluate the role of genetics/genomics in health. The PCORnet infrastructure can be used to identify patients with particular conditions for predictive modeling or comparative clinical effectiveness research using electronic health record data. The network can also recruit patients for observational cohorts or pragmatic clinical trials on pharmacogenomics or the return of genetic results, evaluation of emerging gene therapies, or embedded research into learning health systems to compare clinical genetics/genomics implementation approaches in health care. The partner engagement focus of the PCORnet® Network Partners can enrich research and improve health care delivery and outcomes. The rise of clinical genetics and genomics will profoundly impact health care in the next decade, and the PCORnet® Network Partners are primed to make a leading contribution in this area.