Advancing the Science of Genomic Learning Healthcare Systems

Advancing the Science of Genomic Learning Healthcare Systems

Genomics

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

Learning Health Systems

Vol. 9

No. 4

2025

John Wiley & Sons

Journal article

English

Open Access

Introduction: Identifying key characteristics of exemplar genomic learning healthcaresystems (gLHS) and knowledge gaps that can be explored by collaboration amongthem is likely to accelerate the sharing of best practices and generation of evidencethat informs the use of genomics in clinical care.Methods: Deliberations of an expert group convened by the National HumanGenome Research Institute (NHGRI) supplemented by relevant literature.Results: Recent advances in genomic data standardization, automated clinical deci-sion support, increased interoperability, and improved genomic technologies haveenabled the development of several robust gLHS. They remain concentrated in majoracademic centers, however, and operate largely independently. Sharing theirmethods and tools would increase access to these innovations and advance the field.Several gLHS have expressed willingness to collaborate in a coalition designed togather, evaluate, and disseminate best practices and development needs. Such a coa-lition has recently been formed under the leadership of NHGRI.Conclusion: Increased collaboration, interoperability, and sharing of genomic infor-mation and strategies across gLHS can help define, refine, and disseminate best prac-tices. Such cooperation can improve genomic variant curation and interpretation,diagnostic accuracy, evidence generation, and ultimately patient care through seam-less integration of research as an integral component of good clinical care.

Robin Cole