title: Implementing genomic medicine in the clinic: the future is here.
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.Genet Med 2013:15(4):258-267.
authors.affiliation: National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. manolio@nih.gov
authors.forename: Teri A
authors.initials: TA
authors.lastname: Manolio
authors.forename: Rex L
authors.initials: RL
authors.lastname: Chisholm
authors.forename: Brad
authors.initials: B
authors.lastname: Ozenberger
authors.forename: Dan M
authors.initials: DM
authors.lastname: Roden
authors.forename: Marc S
authors.initials: MS
authors.lastname: Williams
authors.forename: Richard
authors.initials: R
authors.lastname: Wilson
authors.forename: David
authors.initials: D
authors.lastname: Bick
authors.forename: Erwin P
authors.initials: EP
authors.lastname: Bottinger
authors.forename: Murray H
authors.initials: MH
authors.lastname: Brilliant
authors.forename: Charis
authors.initials: C
authors.lastname: Eng
authors.forename: Kelly A
authors.initials: KA
authors.lastname: Frazer
authors.forename: Bruce
authors.initials: B
authors.lastname: Korf
authors.forename: David H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Clay
authors.initials: C
authors.lastname: Marsh
authors.forename: David
authors.initials: D
authors.lastname: Mrazek
authors.forename: Michael F
authors.initials: MF
authors.lastname: Murray
authors.forename: Peter H
authors.initials: PH
authors.lastname: O'Donnell
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Rader
authors.forename: Mary V
authors.initials: MV
authors.lastname: Relling
authors.forename: Alan R
authors.initials: AR
authors.lastname: Shuldiner
authors.forename: David
authors.initials: D
authors.lastname: Valle
authors.forename: Richard
authors.initials: R
authors.lastname: Weinshilboum
authors.forename: Eric D
authors.initials: ED
authors.lastname: Green
authors.forename: Geoffrey S
authors.initials: GS
authors.lastname: Ginsburg
mesh_terms: D005826:Genetics, Medical / Q000639:trends*; D023281:Genomics; D006801:Humans; D012106:Research