Browsing by Author "Rowley, Robb"

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    A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources
    (Oxford University Press, 2022) Wiley, Ken; Findley, Laura; Goldrich, Madison; Rakhra-Burris, Tejinder K.; Stevens, Ana; Williams, Pamela; Bult, Carol J.; Chisholm, Rex; Deverka, Patricia; Ginsburg, Geoffrey S.; Green, Eric D.; Jarvik, Gail; Mensah, George A.; Ramos, Erin; Relling, Mary V.; Roden, Dan M.; Rowley, Robb; Alterovitz, Gil; Aronson, Samuel; Bastarache, Lisa; Cimino, James J.; Crowgey, Erin L.; Del Fiol, Guilherme; Freimuth, Robert R.; Hoffman, Mark A.; Jeff, Janina; Johnson, Kevin; Kawamoto, Kensaku; Madhavan, Subha; Mendonca, Eneida A.; Ohno-Machado, Lucila; Pratap, Siddharth; Overby Taylor, Casey; Ritchie, Marylyn D.; Walton, Nephi; Weng, Chunhua; Zayas-Cabán, Teresa; Manolio, Teri A.; Williams, Marc S.; Pediatrics, School of Medicine
    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.
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    Development of Competency-based Online Genomic Medicine Training (COGENT)
    (Taylor & Francis, 2023) Haga, Susanne B.; Chung, Wendy K.; Cubano, Luis A.; Curry, Timothy B.; Empey, Philip E.; Ginsburg, Geoffrey S.; Mangold, Kara; Miyake, Christina Y.; Prakash, Siddharth K.; Ramsey, Laura B.; Rowley, Robb; Rohrer Vitek, Carolyn R.; Skaar, Todd C.; Wynn, Julia; Manolio, Teri A.; Medicine, School of Medicine
    The fields of genetics and genomics have greatly expanded across medicine through the development of new technologies that have revealed genetic contributions to a wide array of traits and diseases. Thus, the development of widely available educational resources for all healthcare providers is essential to ensure the timely and appropriate utilization of genetics and genomics patient care. In 2020, the National Human Genome Research Institute released a call for new proposals to develop accessible, sustainable online education for health providers. This paper describes the efforts of the six teams awarded to reach the goal of providing genetic and genomic training modules that are broadly available for busy clinicians.