Browsing by Author "Rakhra-Burris, Tejinder K."

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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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    Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network.
    (Springer, 2021-07) Ginsburg, Geoffrey S.; Cavallari, Larisa H.; Chakraborty, Hrishikesh; Cooper-DeHoff, Rhonda M.; Dexter, Paul R.; Eadon, Michael T.; Ferket, Bart S.; Horowitz, Carol R.; Johnson, Julie A.; Kannry, Joseph; Kucher, Natalie; Madden, Ebony B.; Orlando, Lori A.; Parker, Wanda; Peterson, Josh; Pratt, Victoria M.; Rakhra-Burris, Tejinder K.; Ramos, Michelle A.; Skaar, Todd C.; Sperber, Nina; Steen-Burrell, Kady-Ann; Van Driest, Sara L.; Voora, Deepak; Wiisanen, Kristin; Winterstein, Almut G.; Volpi, Simona
    PURPOSE: A critical gap in the adoption of genomic medicine into medical practice is the need for the rigorous evaluation of the utility of genomic medicine interventions. METHODS: The Implementing Genomics in Practice Pragmatic Trials Network (IGNITE PTN) was formed in 2018 to measure the clinical utility and cost-effectiveness of genomic medicine interventions, to assess approaches for real-world application of genomic medicine in diverse clinical settings, and to produce generalizable knowledge on clinical trials using genomic interventions. Five clinical sites and a coordinating center evaluated trial proposals and developed working groups to enable their implementation. RESULTS: Two pragmatic clinical trials (PCTs) have been initiated, one evaluating genetic risk APOL1 variants in African Americans in the management of their hypertension, and the other to evaluate the use of pharmacogenetic testing for medications to manage acute and chronic pain as well as depression. CONCLUSION: IGNITE PTN is a network that carries out PCTs in genomic medicine; it is focused on diversity and inclusion of underrepresented minority trial participants; it uses electronic health records and clinical decision support to deliver the interventions. IGNITE PTN will develop the evidence to support (or oppose) the adoption of genomic medicine interventions by patients, providers, and payers.