Browsing by Author "Jarvik, Gail"

Now showing 1 - 3 of 3
  • Thumbnail Image
    Item
    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.
  • Thumbnail Image
    Item
    Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network
    (Wiley, 2021) Finn, Kelsey Stuttgen; Lynch, John; Aufox, Sharon; Bland, Sarah; Chung, Wendy; Halverson, Colin; Hebbring, Scott; Hoell, Christin; Holm, Ingrid; Jarvik, Gail; Kullo, Iftikhar; Leppig, Kathleen; Myers, Melanie; Prows, Cynthia; Rasouly, Hila Milo; Singh, Rajbir; Weisner, Georgia; Williams, Janet; Wynn, Julia; Smith, Maureen; Sharp, Richard; Medicine, School of Medicine
    Population-based genomic screening has the potential to improve health outcomes by identifying genetic causes of disease before they occur. While much attention has been paid to supporting the needs of the small percentage of patients who will receive a life-altering positive genomic screening result that requires medical attention, little attention has been given to the communication of negative screening results. As there are currently no best practices for returning negative genomic screening results, we drew on experiences across the electronic medical records and genomics (eMERGE) III Network to highlight the diversity of reporting methods employed, challenges encountered in reporting negative test results, and "lessons learned" across institutions. A 60-item survey that consisted of both multiple choice and open-ended questions was created to gather data across institutions. Even though institutions independently developed procedures for reporting negative results, and had very different study populations, we identified several similarities of approach, including but not limited to: returning results by mail, placing results in the electronic health record via an automated process, reporting results to participants' primary care provider, and providing genetic counseling to interested patients at no cost. Differences in procedures for reporting negative results included: differences in terminology used to describe negative results, definitions of negative results, guidance regarding the meaning of negative results for participants and their family members, and recommendations for clinical follow up. Our findings highlight emerging practices for reporting negative genomic screening results and highlight the need to create patient education and clinical support tools for reporting negative screening results.
  • Thumbnail Image
    Item
    Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network
    (MDPI, 2020-05-13) Lynch, John A.; Sharp, Richard R.; Aufox, Sharon A.; Bland, Sarah T.; Blout, Carrie; Bowen, Deborah J.; Buchanan, Adam H.; Halverson, Colin; Harr, Margaret; Hebbring, Scott J.; Henrikson, Nora; Hoell, Christin; Holm, Ingrid A.; Jarvik, Gail; Kullo, Iftikhar J.; Kochan, David C.; Larson, Eric B.; Lazzeri, Amanda; Leppig, Kathleen A.; Madden, Jill; Marasa, Maddalena; Myers, Melanie F.; Peterson, Josh; Prows, Cynthia A.; Kulchak Rahm, Alanna; Ralston, James; Milo Rasouly, Hila; Scrol, Aaron; Smith, Maureen E.; Sturm, Amy; Stuttgen, Kelsey; Wiesner, Georgia; Williams, Marc S.; Wynn, Julia; Williams, Janet L.; Medicine, School of Medicine
    A challenge in returning genomic test results to research participants is how best to communicate complex and clinically nuanced findings to participants in a manner that is scalable to the large numbers of participants enrolled. The purpose of this study was to examine the features of genetic results letters produced at each Electronic Medical Records and Genomics (eMERGE3) Network site to assess their readability and content. Letters were collected from each site, and a qualitative analysis of letter content and a quantitative analysis of readability statistics were performed. Because letters were produced independently at each eMERGE site, significant heterogeneity in readability and content was found. The content of letters varied widely from a baseline of notifying participants that results existed to more detailed information about positive or negative results, as well as materials for sharing with family members. Most letters were significantly above the Centers for Disease Control-suggested reading level for health communication. While continued effort should be applied to make letters easier to understand, the ongoing challenge of explaining complex genomic information, the implications of negative test results, and the uncertainty that comes with some types of test and result makes simplifying letter text challenging.