Browsing by Author "Myers, Melanie"

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    Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience
    (Nature Publishing Group, 2020-06-18) Halverson, Colin M. E.; Bland, Sarah T.; Leppig, Kathleen A.; Marasa, Maddalena; Myers, Melanie; Rasouly, Hila Milo; Wynn, Julia; Clayton, Ellen Wright; Medicine, School of Medicine
    Purpose The Electronic Medical Records and Genomics (eMERGE) Consortium integrated biorepository-based research with electronic health records (EHR) to return results from large-scale genetic tests to participants and uploaded those data into the EHR. This article explores the ethical issues investigators encountered in that process. Methods We conducted in-depth, semistructured interviews with study personnel of the eMERGE-III Consortium sites that returned results. Results We discuss major ethical issues that arose while attempting to return research results from the eMERGE Consortium to individual participants. These included difficulties recontacting those participants who had not explicitly consented to such and disclosing results to many participants with insufficient infrastructure and staff. Investigators reported being driven by a supererogatory clinical impulse. Conclusion All these issues ultimately derive from ethical conflicts inherent to translational work being done at the interface of research and clinical care. A critical rethinking of this divide is important, but infrastructural support for such work is necessary for an ethically sound rollout of large-scale genetic testing.
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    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.