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The Implementation Chasm Hindering Genome-informed Health Care
Kevin B Johnson1, Ellen Wright Clayton1, Justin Starren1
1Kevin B. Johnson, M.D., M.S., is Cornelius Vanderbilt Professor and Chair of Biomedical Informatics, with a joint appointment in the Department of Pediatrics at Vanderbilt University Medical Center. He received his M.D. from Johns Hopkins Hospital in Baltimore and his M.S. in Medical Informatics from Stanford University in 1992. Ellen Wright Clayton, M.D., J.D., is the Craig-Weaver Professor of Pediatrics, Professor of Health Policy in the Center for Biomedical Ethics and Society at Vanderbilt University Medical Center, and Professor of Law at Vanderbilt University. She has been studying the ethical, legal, and social implications of genetics research and its translation to the clinic for many years. She is currently a PI of LawSeq as well as GetPreCiSe, a Center of Excellence in ELSI Research focused on genetic privacy and identity, and has been an investigator in the eMERGE Network since its inception. Justin Starren, M.D., M.S., Ph.D., is Professor of Preventive Medicine and Medical Social Sciences and Chief of the Division of Health and Biomedical Informatics at the Northwestern University Feinberg School of Medicine. He received his M.D. and M.S. in Immunogenetics from Washington University in St. Louis in 1987, and his Ph.D. in Biomedical Informatics from Columbia University in 1997. Josh Peterson, M.D., M.P.H., is an Associate Professor of Biomedical Informatics and Medicine at Vanderbilt University Medical Center. He received his M.D. from Vanderbilt University in 1997 and his M.P.H. from Harvard University School of Public Health in 2002.
Precision medicine integration faces challenges in healthcare systems despite proven infrastructure. Overcoming technical and educational hurdles is key to realizing genomics
Area of Science:
- Genomic Medicine
- Clinical Integration
- Health Systems Science
Background:
- Precision medicine, utilizing genomics, offers significant potential but faces limited routine clinical integration.
- Infrastructure for delivering genomics at the bedside exists, yet systemic barriers hinder widespread adoption.
- Current healthcare systems require adaptation to effectively incorporate genomic knowledge and practices.
Purpose of the Study:
- To identify and address the challenges limiting the routine clinical integration of genomics.
- To explore strategies for overcoming health system receptivity, technical, and educational readiness gaps.
- To facilitate the impactful application of genomics in health and disease management.
Main Methods:
- Review of current literature and clinical practice regarding genomics integration.
- Analysis of barriers in health system receptivity, technical readiness, and educational preparedness.
- Conceptual framework development for integrating genomic knowledge and care processes into existing workflows.
Main Results:
- Significant gap persists between the promise of genomics and its practical implementation in healthcare.
- Receptivity, technical, and educational readiness are critical determinants of successful genomics integration.
- Integration requires substantial changes to existing healthcare workflows and processes.
Conclusions:
- Successful integration of genomics into clinical practice necessitates addressing systemic challenges.
- Transforming healthcare workflows is essential for realizing the full potential of precision medicine.
- Genomic integration promises high-quality, cost-effective healthcare globally, despite implementation hurdles.
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