Returning integrated genomic risk and clinical recommendations: The eMERGE study |
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| Institution: | 1. Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN;2. Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, WA;3. Department of Biomedical Informatics and Department of Medicine, Vanderbilt University Medical Center, Nashville, TN;4. Department of Internal Medicine and Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN;5. Center for Genetic Medicine, Northwestern University, Chicago, IL;6. Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN;7. Division of Biomedical Informatics and Genomics, John W. Deming Department of Medicine, Tulane University School of Medicine, New Orleans, LA;8. Mayo Clinician Investigator Training Program, Department of Internal Medicine and Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN;9. Invitae, San Francisco, CA;10. Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN;11. Department of Pharmacology, Feinberg School of Medicine, and Center for Genetic Medicine, Northwestern University, Chicago, IL;12. Department of Biomedical Informatics and Medical Education, University of Washington Medical Center, Seattle, WA;13. Broad Institute of MIT and Harvard, Cambridge, MA;14. Division of Genetics and Genomics and Manton Center for Orphan Diseases Research, Boston Children’s Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA;15. Division of Medical Genetics, Department of Medicine and Department of Genome Science, University of Washington Medical Center, Seattle, WA;16. Division of Rheumatology, Inflammation and Immunity, Department of Medicine, Brigham and Women’s Hospital, Boston, MA;17. Department of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL;18. Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN;19. Department of Neurology, Massachusetts General Hospital, Boston, MA;20. Center for Applied Genomics and Precision Medicine, Duke University, Durham, NC;21. Divisions of Human Genetics and Patient Services, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH;22. Department of Preventive Medicine, Northwestern University, Chicago, IL;23. Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD;24. Department of Cardiology and Center for Genetic Medicine, Northwestern University, Chicago, IL;25. Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, PA;26. School of Pharmacy, University of Washington, Seattle, WA;27. Division of Quantitative Science, Department of Obstetrics and Gynecology, Department of Biomedical Sciences, Vanderbilt University Medical Center, Nashville, TN;28. Kaiser Permanente Research Bank, Oakland, CA;29. Institute for Genomic Health, Department of Medicine, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY;30. UAB Medicine Enterprise, Birmingham, AL;31. Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN;32. Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL;33. Division of Genetic Medicine, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN;34. Department of Health Services Administration, University of Alabama at Birmingham, Birmingham, AL;35. Department of Emergency Medicine, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL;36. Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, Columbia University, New York, NY;37. Division of General Internal Medicine and the Informatics Institute, Department of Medicine, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL;38. Department of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA;39. Mountain Park Health Center, Phoenix, AZ;40. Department of Obstetrics & Gynecology and Center for Genetic Medicine, Northwestern University, Chicago, IL;41. Department of Biomedical Informatics, Columbia University Irving Medical Center, Columbia University, New York, NY;42. Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL;43. Department of Biomedical and Health Informatics, Children’s Hospital of Philadelphia, Philadelphia, PA;44. Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY;45. Department of Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL;46. The Center for Autoimmune Genomics and Etiology, Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH;47. Elson S. Floyd College of Medicine, Washington State University, Vancouver, WA;48. Department of Medicine, Brigham and Women’s Hospital, Mass General Brigham Personalized Medicine, Boston, MA;49. Departments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN;50. Division of Nephrology, Department of Medicine & Division of Ethics, Department of Medical Humanities and Ethics, Columbia University Irving Medical Center, New York, NY;51. Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN;52. Center for Health Promotion and Disease Prevention, Arizona State University, Phoenix, AZ;53. Biomedical Ethics Program, Department of Quantitative Health Science, Mayo Clinic, Rochester, MN;54. Department of Laboratory Medicine & Pathology, University of Washington Medical Center, Seattle, WA;55. Department of Psychiatry and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA;56. Division of Genomics and Society, National Human Genome Research Institute, Bethesda, MD;57. The Institute for Genomic Health, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY;58. Department of Medicine and Center for Health Information Partnerships, Northwestern University, Chicago, IL;59. Division of Cardiovascular Medicine, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN;60. Center for Precision Medicine, Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN |
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| Abstract: | PurposeAssessing the risk of common, complex diseases requires consideration of clinical risk factors as well as monogenic and polygenic risks, which in turn may be reflected in family history. Returning risks to individuals and providers may influence preventive care or use of prophylactic therapies for those individuals at high genetic risk.MethodsTo enable integrated genetic risk assessment, the eMERGE (electronic MEdical Records and GEnomics) network is enrolling 25,000 diverse individuals in a prospective cohort study across 10 sites. The network developed methods to return cross-ancestry polygenic risk scores, monogenic risks, family history, and clinical risk assessments via a genome-informed risk assessment (GIRA) report and will assess uptake of care recommendations after return of results.ResultsGIRAs include summary care recommendations for 11 conditions, education pages, and clinical laboratory reports. The return of high-risk GIRA to individuals and providers includes guidelines for care and lifestyle recommendations. Assembling the GIRA required infrastructure and workflows for ingesting and presenting content from multiple sources. Recruitment began in February 2022.ConclusionReturn of a novel report for communicating monogenic, polygenic, and family history-based risk factors will inform the benefits of integrated genetic risk assessment for routine health care. |
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| Keywords: | Common variants Family history Genotyping Monogenic risks Polygenic risk scores |
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