A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources
Year: 2022
Type: article
Abstract: OBJECTIVE: The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research virtually hosted its 13th genomic medicine meeting titled "Developing a Clinical Genomic Informatics Research Agenda". The meeting's goal was to articulate a research strategy to develop Genomics-based Clinical Informatics Tools and Resources (GCIT) to improve the detection, treatment, and reporting of genetic disorders in clinical settings. MATERIALS AND METHODS: Experts from government agencies, the private sector, and academia in genomic medicine and clinical informatics were invited to address the meeting's goals. Invitees were also asked to complete a survey to assess important considerations needed to develop a genomic-based clinical informatics research strategy. RESULTS: Outcomes from the meeting included identifying short-term research needs, such as designing and implementing standards-based interfaces between laboratory information systems and electronic health records, as well as long-term projects, such as identifying and addressing barriers related to the establishment and implementation of genomic data exchange systems that, in turn, the research community could help address. DISCUSSION: Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them.
Authors: Ken Wiley, Laura Findley, Madison Goldrich, Tejinder K Rakhra-Burris, Ana Stevens, Pamela Williams, Carol J Bult, Rex Chisholm, Patricia Deverka, Geoffrey S Ginsburg, Eric D Green, Gail Jarvik, George A Mensah, Erin Ramos, Mary V Relling, Dan M Roden, Robb Rowley, Gil Alterovitz, Samuel Aronson, Lisa Bastarache, James J Cimino, Erin L Crowgey, Guilherme Del Fiol, Robert R Freimuth, Mark A Hoffman, Janina Jeff, Kevin Johnson, Kensaku Kawamoto, Subha Madhavan, Eneida A Mendonca, Lucila Ohno-Machado, Siddharth Pratap, Casey Overby Taylor, Marylyn D Ritchie, Nephi Walton, Chunhua Weng, Teresa Zayas-Cabán, Teri A Manolio, Marc S Williams
Institutions: National Institutes of Health, National Human Genome Research Institute, Duke University, Jackson Laboratory, Northwestern University, University of California, San Francisco, University of Washington, National Heart, Lung, and Blood Institute, St. Jude Children's Research Hospital, Vanderbilt University, Vanderbilt University Medical Center, Brigham and Women's Hospital, Mass General Brigham, University of Alabama at Birmingham, University of Utah, Mayo Clinic, Children's Mercy Hospital, University of Missouri–Kansas City, Illumina (United States), Georgetown University, Regenstrief Institute, Indiana University Indianapolis, Indiana University School of Medicine, University of California San Diego, Meharry Medical College, Johns Hopkins University, University of Pennsylvania, Intermountain Healthcare, Columbia University, United States National Library of Medicine
Language: English
Subfield: Health Information Management
Field: Health Professions
Domain: Health Sciences
Open Access status: green
Award: G1431138908
OpenAlex ID: W4225153237