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Published on: April 11, 2016
Implementing genomic medicine in the clinic: the future is here
Teri A Manolio1, Rex L Chisholm, Brad Ozenberger
1National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. manolio@nih.gov
Summary
Genomic medicine programs face challenges integrating genomic findings into patient care, including variant relevance, reimbursement, and workflow burdens. Collaboration and shared best practices are crucial for advancing genomic healthcare implementation.
Area of Science:
- Genomic Medicine
- Clinical Genomics
- Healthcare Implementation Science
Background:
- The integration of genomics into clinical practice has been anticipated but has progressed slowly.
- Multiple institutions are independently developing genomic medicine programs, facing similar challenges and solutions.
- Early experiences in genomic medicine offer valuable lessons for broader implementation.
Purpose of the Study:
- To identify common obstacles and solutions in current genomic medicine programs.
- To define essential infrastructure and research needs for genomic medicine.
- To propose an implementation framework for establishing new genomic medicine initiatives.
Main Methods:
- Convened a meeting of institutions with active genomic medicine programs.
- Facilitated discussions on ongoing projects, challenges, and infrastructure needs.
- Outlined a framework for investigating and implementing genomic medicine programs.
Main Results:
- Key challenges include limited evidence on medically relevant genomic variants, lack of reimbursement, and clinical workflow burdens.
- Essential infrastructure needs include an accessible knowledge base for variants and phenotypes, and a system for cataloging actionable variants.
- Despite isolated efforts, institutions are actively using genomic information in clinical care.
Conclusions:
- Successful implementation of genomic medicine requires addressing evidence gaps, reimbursement issues, and clinical workflow integration.
- Development of shared knowledge bases and frameworks for actionable variants is critical.
- Enhanced collaboration and sharing of best practices among institutions are vital for advancing genomic medicine.
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