Appl Clin Inform 2021; 12(02): 383-390
DOI: 10.1055/s-0041-1729164
Research Article

Infobuttons for Genomic Medicine: Requirements and Barriers

Luke V. Rasmussen
1  Department of Preventive Medicine, Northwestern University, Chicago, Illinois, United Sates
John J. Connolly
2  The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United Sates
Guilherme Del Fiol
3  Department of Biomedical Informatics, University of Utah, Salt Lake City, Utah, United Sates
Robert R. Freimuth
4  Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United Sates
Douglas B. Pet
5  Department of Neurology, University of California San Francisco, San Francisco, California, United Sates
Josh F. Peterson
6  Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, Tennessee, United Sates
Brian H. Shirts
7  Department of Laboratory Medicine, University of Washington, Seattle, Washington, United Sates
Justin B. Starren
1  Department of Preventive Medicine, Northwestern University, Chicago, Illinois, United Sates
Marc S. Williams
8  Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, United Sates
Nephi Walton
8  Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, United Sates
9  Intermountain Precision Genomics, Intermountain Healthcare, St George, Utah, United Sates
Casey Overby Taylor
8  Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, United Sates
10  Department of Medicine and Biomedical Engineering, Johns Hopkins School of Medicine, Baltimore, Maryland, United Sates
› Author Affiliations
Funding This phase of the eMERGE network was initiated and funded by the NHGRI through the following grants: U01HG008657 (Group Health Cooperative/University of Washington); U01HG008685 (Brigham and Women's Hospital); U01HG008672 (Vanderbilt University Medical Center); U01HG008666 (Cincinnati Children's Hospital Medical Center); U01HG006379 (Mayo Clinic); U01HG008679 (Geisinger Clinic); U01HG008680 (Columbia University Health Sciences); U01HG008684 (Children's Hospital of Philadelphia); U01HG008673 (Northwestern University); U01HG008701 (Vanderbilt University Medical Center serving as the Coordinating Center); U01HG008676 (Partners Healthcare/Broad Institute); U01HG008664 (Baylor College of Medicine); and U54MD007593 (Meharry Medical College).


Objectives The study aimed to understand potential barriers to the adoption of health information technology projects that are released as free and open source software (FOSS).

Methods We conducted a survey of research consortia participants engaged in genomic medicine implementation to assess perceived institutional barriers to the adoption of three systems: ClinGen electronic health record (EHR) Toolkit, DocUBuild, and The survey included eight barriers from the Consolidated Framework for Implementation Research (CFIR), with additional barriers identified from a qualitative analysis of open-ended responses.

Results We analyzed responses from 24 research consortia participants from 18 institutions. In total, 14 categories of perceived barriers were evaluated, which were consistent with other observed barriers to FOSS adoption. The most frequent perceived barriers included lack of adaptability of the system, lack of institutional priority to implement, lack of trialability, lack of advantage of alternative systems, and complexity.

Conclusion In addition to understanding potential barriers, we recommend some strategies to address them (where possible), including considerations for genomic medicine. Overall, FOSS developers need to ensure systems are easy to trial and implement and need to clearly articulate benefits of their systems, especially when alternatives exist. Institutional champions will remain a critical component to prioritizing genomic medicine projects.

Protection of Human and Animal Subjects Protections

The work described was deemed nonhuman subjects research by the Johns Hopkins University Institutional Review Board.

Publication History

Received: 23 December 2020

Accepted: 12 March 2021

Publication Date:
12 May 2021 (online)

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