Health equity in the implementation of genomics and precision medicine: A public health imperative |
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| Authors: | Muin J. Khoury Scott Bowen W. David Dotson Emily Drzymalla Ridgely F. Green Robert Goldstein Katherine Kolor Leandris C. Liburd Laurence S. Sperling Rebecca Bunnell |
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| Affiliation: | 1. Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, GA;2. Office of the Associate Director of Policy and Strategy, Centers for Disease Control and Prevention, Atlanta, GA;3. Massachusetts General Hospital and Harvard Medical School, Boston, MA;4. Office of Minority Health and Health Equity, Centers for Disease Control and Prevention, Atlanta, GA;5. Million Hearts Initiative and Emory University, Atlanta, GA;6. Office of Science, Centers for Disease Control and Prevention, Atlanta, GA;1. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada;2. Genomics Health Services and Policy Research Program, Li Ka Shing Knowledge Institute, St. Michael''s Hospital, Unity Health Toronto, Toronto, Ontario, Canada;3. Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada;4. Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada;5. Department of Laboratory Medicine and Pathobiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada;6. Li Ka Shing Knowledge Institute, St. Michael''s Hospital, Unity Health Toronto, Toronto, Ontario, Canada;7. Department of Surgery, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada;8. Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia;9. Ontario Institute for Cancer Research, Toronto, Ontario, Canada;1. Kaiser Permanente of Washington, Seattle, WA;2. Geisinger, Danville, PA;3. Columbia University, New York, NY;4. Northwestern University, Evanston IL;5. Vanderbilt University Medical Center, Nashville, TN;6. Harvard University, Cambridge, MA;7. University of Washington, Seattle, WA;8. National Institutes of Health, Bethesda, MD;9. Children’s Hospital of Philadelphia, Philadelphia, PA;10. Kaiser Permanente Washington Health Research Institute, Seattle, WA;11. Boston Children’s Hospital, Boston, MA;12. Mayo Clinic, Rochester, MN;13. Baptist Memorial Health Center, Memphis, TN;14. Cincinnati Children’s Hospital and Medical Center, Cincinnati, OH;15. Meharry Medical College, Nashville, TN;16. Arizona State University, Tempe, AZ;1. Genomics Education Programme, Health Education England, Birmingham, United Kingdom;2. Bristol Clinical Genetics Service, Department of Clinical Genetics, St Michael’s Hospital, Bristol, United Kingdom;3. Genomics England, London, United Kingdom;4. Wellcome Connecting Science, Wellcome Genome Campus, Cambridge, United Kingdom;1. Geisinger Health System, Danville, PA;2. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA;3. Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;4. Online Mendelian Inheritance in Man (OMIM), Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD;5. INSERM, US14 - Orphanet, Paris, France;6. Department of Pathology, Massachusetts General Hospital, Boston, MA;7. Mass General Brigham Laboratory for Molecular Medicine, Cambridge, MA;8. Myriad Women''s Health, San Francisco, CA;9. Department of Genetics, UNC School of Medicine, University of North Carolina, Chapel Hill, NC;10. European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom;11. HUGO Gene Nomenclature Committee (HGNC), European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom;12. Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom;13. Illumina Clinical Services Laboratory, Illumina Inc, San Diego, CA;14. National Library of Medicine, Bethesda, MD;15. ICF International Inc, Fairfax, VA;16. Genome Interpretation, Genome Assembly and Annotation (GAA), European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom;17. Genomics England, Queen Mary University of London, London, United Kingdom;18. Healx Ltd, Cambridge, United Kingdom;19. Franklin by Genoox, Palo Alto, CA;20. Department of Medical Genetics, Addenbrooke''s Treatment Centre, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom;21. MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, College of Medicine & Veterinary Medicine, The University of Edinburgh, Edinburgh, United Kingdom;22. SciBite Limited, BioData Innovation Centre, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom;23. Wellcome Sanger Institute, Hinxton, United Kingdom;24. Open Targets, EMBL-EBI, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom;25. AmbryGenetics, Aliso Viejo, CA;26. National Human Genome Research Institute, National Institutes of Health Bethesda, MD;27. Autism & Developmental Medicine Institute, Geisinger, Danville, PA;28. National Heart and Lung Institute & MRC London Institute of Medical Sciences, Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, United Kingdom;29. Great Ormond Street Hospital, London, United Kingdom;30. Australian Genomics, Melbourne, Australia;31. Invitae, San Francisco, CA;32. Royal Brompton & Harefield Hospitals, Guy’s and St. Thomas’ NHS Foundation Trust, London, United Kingdom;33. Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon & Exeter Hospital, Exeter, United Kingdom;34. Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA;1. Department of Health Policy and Management, Gillings School of Global Public Health, The University of North Carolina at Chapel Hill, Chapel Hill, NC;2. Department of Public Policy, College of Arts and Sciences, The University of North Carolina at Chapel Hill, Chapel Hill, NC;3. Department of Genetics, School of Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC;1. Division of General Internal Medicine, Department of Medicine, Massachusetts General Hospital, Boston, MA;2. Department of Medicine, Harvard Medical School, Boston, MA;3. Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA;4. Program in Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA |
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| Abstract: | Recent reviews have emphasized the need for a health equity agenda in genomics research. To ensure that genomic discoveries can lead to improved health outcomes for all segments of the population, a health equity agenda needs to go beyond research studies. Advances in genomics and precision medicine have led to an increasing number of evidence-based applications that can reduce morbidity and mortality for millions of people (tier 1). Studies have shown lower implementation rates for selected diseases with tier 1 applications (familial hypercholesterolemia, Lynch syndrome, hereditary breast and ovarian cancer) among racial and ethnic minority groups, rural communities, uninsured or underinsured people, and those with lower education and income. We make the case that a public health agenda is needed to address disparities in implementation of genomics and precision medicine. Public health actions can be centered on population-specific needs and outcomes assessment, policy and evidence development, and assurance of delivery of effective and ethical interventions. Crucial public health activities also include engaging communities, building coalitions, improving genetic health literacy, and building a diverse workforce. Without concerted public health action, further advances in genomics with potentially broad applications could lead to further widening of health disparities in the next decade. |
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| Keywords: | Genomics Health equity Precision medicine Public health genomics |
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