Implementing genomic medicine in the clinic: The future is here

Teri A. Manolio, Rex L. Chisholm, Brad Ozenberger, Dan M. Roden, Marc S. Williams, Richard Wilson, David Bick, Erwin P. Bottinger, Murray H. Brilliant, Charis Eng, Kelly A. Frazer, Bruce Korf, David H. Ledbetter, James R. Lupski, Clay Marsh, David Mrazek, Michael F. Murray, Peter H. O'Donnell, Daniel J. Rader, Mary V. RellingAlan R. Shuldiner, David Valle, Richard Weinshilboum, Eric D. Green, Geoffrey S. Ginsburg

Research output: Contribution to journalReview article

321 Scopus citations

Abstract

Although the potential for genomics to contribute to clinical care has long been anticipated, the pace of defining the risks and benefits of incorporating genomic findings into medical practice has been relatively slow. Several institutions have recently begun genomic medicine programs, encountering many of the same obstacles and developing the same solutions, often independently. Recognizing that successful early experiences can inform subsequent efforts, the National Human Genome Research Institute brought together a number of these groups to describe their ongoing projects and challenges, identify common infrastructure and research needs, and outline an implementation framework for investigating and introducing similar programs elsewhere. Chief among the challenges were limited evidence and consensus on which genomic variants were medically relevant; lack of reimbursement for genomically driven interventions; and burden to patients and clinicians of assaying, reporting, intervening, and following up genomic findings. Key infrastructure needs included an openly accessible knowledge base capturing sequence variants and their phenotypic associations and a framework for defining and cataloging clinically actionable variants. Multiple institutions are actively engaged in using genomic information in clinical care. Much of this work is being done in isolation and would benefit from more structured collaboration and sharing of best practices.

Original languageEnglish (US)
Pages (from-to)258-267
Number of pages10
JournalGenetics in Medicine
Volume15
Issue number4
DOIs
StatePublished - Apr 1 2013

Keywords

  • medical genomics
  • practice standards

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Implementing genomic medicine in the clinic: The future is here'. Together they form a unique fingerprint.

  • Cite this

    Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., Bick, D., Bottinger, E. P., Brilliant, M. H., Eng, C., Frazer, K. A., Korf, B., Ledbetter, D. H., Lupski, J. R., Marsh, C., Mrazek, D., Murray, M. F., O'Donnell, P. H., Rader, D. J., ... Ginsburg, G. S. (2013). Implementing genomic medicine in the clinic: The future is here. Genetics in Medicine, 15(4), 258-267. https://doi.org/10.1038/gim.2012.157