Implementing genomic medicine in the clinic: the future is here.

Published

Journal Article (Review)

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.Genet Med 2013:15(4):258-267.

Full Text

Duke Authors

Cited Authors

  • Manolio, TA; Chisholm, RL; Ozenberger, B; Roden, DM; Williams, MS; Wilson, R; Bick, D; Bottinger, EP; Brilliant, MH; Eng, C; Frazer, KA; Korf, B; Ledbetter, DH; Lupski, JR; Marsh, C; Mrazek, D; Murray, MF; O'Donnell, PH; Rader, DJ; Relling, MV; Shuldiner, AR; Valle, D; Weinshilboum, R; Green, ED; Ginsburg, GS

Published Date

  • April 2013

Published In

Volume / Issue

  • 15 / 4

Start / End Page

  • 258 - 267

PubMed ID

  • 23306799

Pubmed Central ID

  • 23306799

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1038/gim.2012.157

Language

  • eng

Conference Location

  • United States