Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores.

Autor:	Connolly JJ; Center for Applied Genomics, Children's Hospital of Philadelphia, PA. Electronic address: connollyj1@chop.edu., Berner ES; Department of Health Services Administration, University of Alabama at Birmingham, Birmingham, AL., Smith M; Center for Genetic Medicine, Department of Medicine, Northwestern University, Chicago, IL., Levy S; Center for Applied Genomics, Children's Hospital of Philadelphia, PA., Terek S; Center for Applied Genomics, Children's Hospital of Philadelphia, PA., Harr M; Center for Applied Genomics, Children's Hospital of Philadelphia, PA., Karavite D; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA., Suckiel S; The Institute for Genomic Health, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY., Holm IA; Division of Genetics and Genomics, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School, Boston, MA., Dufendach K; Department of Pediatrics, University of Cincinnati, Cincinnati, OH., Nelson C; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Khan A; Division of Nephrology, Dept of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY., Chisholm RL; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL., Allworth A; Department of Medical Genetics, University of Washington, Seattle, WA., Wei WQ; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN., Bland HT; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN., Clayton EW; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN; Center for Biomedical Ethics and Society, Vanderbilt University, Nashville, TN; Vanderbilt University Law School, Nashville, TN., Soper ER; The Institute for Genomic Health, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY; Division of Genomic Medicine, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY., Linder JE; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN., Limdi NA; Department of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL., Miller A; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN., Nigbur S; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Bangash H; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Hamed M; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Sherafati A; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Lewis ACF; Edmond and Lily Safra Center for Ethics, Harvard, MA; Brigham and Women's Hospital, Boston, MA., Perez E; Mass General Brigham Personalized Medicine, Brigham and Women's Hospital, Boston, MA., Orlando LA; Department of Medicine, Duke University, Durham, NC., Rakhra-Burris TK; Department of Medicine, Duke University, Durham, NC., Al-Dulaimi M; Department of Biology, The College of Idaho, Caldwell, ID., Cifric S; Department of Biology, The College of Idaho, Caldwell, ID., Scherr CL; School of Communication | Department of Communication Studies, Northwestern University, Chicago, IL., Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, PA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA., Sabatello M; Center for Precision Medicine & Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, NY; Division of Ethics, Department of Medical Humanities & Ethics, Columbia University Irving Medical Center, New York, NY. Electronic address: ms4075@cumc.columbia.edu.
Jazyk:	angličtina
Zdroj:	Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Sep; Vol. 25 (9), pp. 100906. Date of Electronic Publication: 2023 May 26.
DOI:	10.1016/j.gim.2023.100906
Abstrakt:	Polygenic risk scores (PRS) have potential to improve health care by identifying individuals that have elevated risk for common complex conditions. Use of PRS in clinical practice, however, requires careful assessment of the needs and capabilities of patients, providers, and health care systems. The electronic Medical Records and Genomics (eMERGE) network is conducting a collaborative study which will return PRS to 25,000 pediatric and adult participants. All participants will receive a risk report, potentially classifying them as high risk (∼2-10% per condition) for 1 or more of 10 conditions based on PRS. The study population is enriched by participants from racial and ethnic minority populations, underserved populations, and populations who experience poorer medical outcomes. All 10 eMERGE clinical sites conducted focus groups, interviews, and/or surveys to understand educational needs among key stakeholders-participants, providers, and/or study staff. Together, these studies highlighted the need for tools that address the perceived benefit/value of PRS, types of education/support needed, accessibility, and PRS-related knowledge and understanding. Based on findings from these preliminary studies, the network harmonized training initiatives and formal/informal educational resources. This paper summarizes eMERGE's collective approach to assessing educational needs and developing educational approaches for primary stakeholders. It discusses challenges encountered and solutions provided. Competing Interests: Conflict of Interest Emma Perez is a paid consultant for Allelica Inc. Lori Orlando and Tejinder Rakhra-Burris are founders of a company developing MeTree. Maureen Smith is a Section Editor for the Journal of Genetic Counseling. Maya Sabatello serves as IRB member of the All of Us Research Program. All other authors declare no conflicts of interest. (Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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