Browsing by Author "Marasa, Maddalena"

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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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    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.