Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives |
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| Institution: | 1. Division of Ethics, Department of Medical Humanities and Ethics, Columbia University, New York, NY;2. Departments of Pediatrics and Medicine, Columbia University, New York, NY;3. The Hastings Center, Garrison, NY;4. Department of Philosophy, Bard College, Annandale-on-Hudson, NY;5. Department of Psychiatry and New York State Psychiatric Institute, Columbia University, New York, NY;1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX;2. Department of Genetics and Metabolism, Children’s Medical Center, Dallas, TX;3. Department of Pediatrics, Baylor College of Medicine, San Antonio, TX;4. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX;1. Department of Psychiatry, Columbia University, New York, NY;2. The Hastings Center, Garrison, New York, NY;3. Department of Pediatrics, Stanford Medicine, Center for Biomedical Ethics, Stanford University, Stanford, CA;4. Department of Medicine, Center for Precision Medicine and Genomics, Columbia University, New York, NY;5. Division of Ethics, Department of Medical Humanities and Ethics, Columbia University, New York, NY;1. HudsonAlpha Institute for Biotechnology, Huntsville, AL;2. Washington University School of Medicine, St. Louis, MO;3. Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY;4. Division of Pediatric Genetic Medicine, Department of Pediatrics, Children’s Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY;5. University of Alabama in Birmingham, Birmingham, AL;6. HudsonAlpha Clinical Services Lab, Huntsville, AL;7. University of Mississippi Medical Center, Jackson, MS;8. Department of Neurology, University of Alabama at Birmingham, Birmingham, AL;9. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY;10. Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY;1. Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC;2. Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA;3. Stanford Center for Undiagnosed Diseases, Stanford University, and Department of Pediatrics, Stanford University School of Medicine, Stanford, CA;4. Institute for Genome Medicine, Columbia University Medical Center, New York, NY;1. Department of Population Medicine, Harvard Medical School, Boston, MA;2. Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA;3. Department of Epidemiology and Biostatistics, School of Public Health, Boston University, Boston, MA;4. Division of General Pediatrics, Department of Pediatrics, Boston Children’s Hospital, Boston, MA;5. Department of Pediatrics, Harvard Medical School, Boston, MA;6. Harvard Medical School, Boston, MA;7. Inherited Cardiac Arrhythmia Program, Department of Cardiology, Boston Children’s Hospital Boston, MA;1. Center for Applied Genomics, Children’s Hospital of Philadelphia, PA;2. Department of Health Services Administration, University of Alabama at Birmingham, Birmingham, AL;3. Center for Genetic Medicine, Department of Medicine, Northwestern University, Chicago, IL;4. Department of Biomedical and Health Informatics, Children’s Hospital of Philadelphia, PA;5. The Institute for Genomic Health, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY;6. Division of Genetics and Genomics, Boston Children’s Hospital; Department of Pediatrics, Harvard Medical School, Boston, MA;7. Department of Pediatrics, University of Cincinnati, Cincinnati, OH;8. Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH;9. Division of Nephrology, Dept of Medicine, Vagelos College of Physicians & Surgeons, Columbia University, New York, NY;10. Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL;11. Department of Medical Genetics, University of Washington, Seattle, WA;12. Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN;13. Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN;14. Center for Biomedical Ethics and Society, Vanderbilt University, Nashville, TN;15. Vanderbilt University Law School, Nashville, TN;16. Division of Genomic Medicine, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY;17. Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN;18. Department of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL;19. Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN;20. Department of Clinical Genomics, Mayo Clinic, Rochester, MN;21. Edmond and Lily Safra Center for Ethics, Harvard, MA;22. Brigham and Women''s Hospital, Boston, MA;23. Mass General Brigham Personalized Medicine, Brigham and Women’s Hospital, Boston, MA;24. Department of Medicine, Duke University, Durham, NC;25. Department of Biology, The College of Idaho, Caldwell, ID;26. School of Communication | Department of Communication Studies, Northwestern University, Chicago, IL;27. Department of Pediatrics, Columbia University Irving Medical Center, New York, NY;28. Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;29. Division of Human Genetics, Children''s Hospital of Philadelphia, Philadelphia, PA;30. Division of Pulmonary Medicine, Children''s Hospital of Philadelphia, Philadelphia, PA;31. Center for Precision Medicine & Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, NY;32. Division of Ethics, Department of Medical Humanities & Ethics, Columbia University Irving Medical Center, New York, NY |
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| Abstract: | PurposeAdvances in the study of ultrarare genetic conditions are leading to the development of targeted interventions developed for single or very small numbers of patients. Owing to the experimental but also highly individualized nature of these interventions, they are difficult to classify cleanly as either research or clinical care. Our goal was to understand how parents, institutional review board members, and clinical geneticists familiar with individualized genetic interventions conceptualize these activities and their implications for the relationship between research and clinical care.MethodsWe conducted qualitative, semi-structured interviews with 28 parents, institutional review board members, and clinical geneticists and derived themes from those interviews through content analysis.ResultsIndividuals described individualized interventions as blurring the lines between research and clinical care and focused on hopes for therapeutic benefit and expectations for generalizability of knowledge and benefit to future patients.ConclusionIndividualized interventions aimed at one or few patients reveal the limitations of a binary framing of research and clinical care. As a hybrid set of activities, individualized interventions suggest the need for flexibility and new frameworks that acknowledge these activities across the spectrum of research and clinical care. |
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| Keywords: | Ethics Gene therapy Pediatrics Rare genetic disease Regulatory governance |
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