A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources

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 BastaracheJames 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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1342-1349
Number of pages8
JournalJournal of the American Medical Informatics Association
Issue number8
StatePublished - Aug 1 2022


  • clinical decision support systems
  • clinical informatics
  • genomics

ASJC Scopus subject areas

  • Health Informatics


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