Journal Article

Advancing the science of genomic learning healthcare systems

Rehm, Heidi L., Del Fiol, Guilherme, Jarvik, Gail P., Watson, Karriem, Wiley, Ken, Rider, Renee, Tsosie, Krystal S., Taylor, Casey Overby, Hamid, Rizwan, Pritchard, Daryl, Osterman, Travis, Williams, Marc S., Rowley, Robb, Mendelsohn, Nancy J., Chisholm, Rex L., Elhanan, Gai, Roden, Dan M., McLeod, Howard L., Bult, Carol J., Mensah, George A., Jeff, Janina M., Narula, Jahnavi, Abul‐Husn, Noura S., Landry, Latrice, McGraw, Deven, Hulick, Peter J., Green, Eric D., Vassy, Jason L., Relling, Mary V., Haga, Susanne B., Deverka, Patricia A., Ramos, Erin M., Manolio, Teri A., Chute, Christopher G., Horowitz, Carol R., Buchanan, Adam H., Korf, Bruce, James, Cynthia A., Ginsburg, Geoffrey S.

2025

Overview

Introduction Identifying key characteristics of exemplar genomic learning healthcare systems (gLHS) and knowledge gaps that can be explored by collaboration among them is likely to accelerate the sharing of best practices and generation of evidence that informs the use of genomics in clinical care. Methods Deliberations of an expert group convened by the National Human Genome Research Institute (NHGRI) supplemented by relevant literature. Results Recent advances in genomic data standardization, automated clinical decision support, increased interoperability, and improved genomic technologies have enabled the development of several robust gLHS. They remain concentrated in major academic centers, however, and operate largely independently. Sharing their methods and tools would increase access to these innovations and advance the field. Several gLHS have expressed willingness to collaborate in a coalition designed to gather, evaluate, and disseminate best practices and development needs. Such a coalition has recently been formed under the leadership of NHGRI. Conclusion Increased collaboration, interoperability, and sharing of genomic information and strategies across gLHS can help define, refine, and disseminate best practices. Such cooperation can improve genomic variant curation and interpretation, diagnostic accuracy, evidence generation, and ultimately patient care through seamless integration of research as an integral component of good clinical care.

• Publisher: John Wiley & Sons, Inc,Wiley
• Subject: Archives & records / Clinical decision making / Collaboration / Electronic health records / Ethnicity / genomic medicine / Genomics / Health disparities / Informatics / Information sharing / Infrastructure / Interoperability / Knowledge / Medicine / Patients / Testing laboratories / Web portals