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

Bibliographic Data

ID9104547
AuthorsRussell L Rothman (0000-0002-1506-3990, Institute for Population and Public Health, Vanderbilt University Medical Center, Nashville, TN, corresponding author), Josh Peterson (Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN), Sunil Kripalani (0000-0002-4214-7129, Center for Health Services Research, Institute for Population and Public Health, Vanderbilt University Medical Center, Nashville, TN), Jennifer B Barrett (Center for Health Services Research, Institute for Population and Public Health, Vanderbilt University Medical Center, Nashville, TN), Lisa Bastarache (Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN), Les Lenert (Biomedical Informatics Center, Medical University of South Carolina, Charleston, SC), Bradley Taylor (0000-0002-6414-4172, Clinical and Translational Science Institute, Center for Biomedical Informatics, Medical College of Wisconsin, Milwaukee, WI), Ryan Carnahan (Department of Epidemiology, University of Iowa College of Public Health, Iowa City, IA), Lemuel R Waitman (0000-0003-4748-2898, Department of Biomedical and Health Informatics, University of Missouri-Kansas City School of Medicine, Kansas City, MO)
Year2026
Volume64
Issue3S
PagesS314-S319
Publication date2026-02-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueMedical Care (JOURNAL)
Journal identifiersISSN: 0025-7079 • E-ISSN: 1537-1948
PublisherOvid Technologies (Wolters Kluwer Health) (PUBLISHER)
DOI10.1097/mlr.0000000000002247
PMID41505169
OpenAlexW7119522559
LanguageEN
Citations received1
References cited33

BACKGROUND: Scientific advances and cost efficiencies in genetics and genomics are expanding clinical application for prevention, diagnosis, and treatment. OBJECTIVE: 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. MAIN ARGUMENTS: 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

Clinical trial · Disease · Genomics · Health care · Human genetics · MEDLINE · Observational study · Pharmacogenomics · Precision medicine · BRCA gene mutations in cancer · Genetic Associations and Epidemiology · Pharmacogenetics and Drug Metabolism

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