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Cited by 566

The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.

Implementing genomic medicine in the clinic: the future is here

Open access
Manolio, Teri A., Chisholm, Rex L., Ozenberger, Brad, Roden, Dan M., Williams, Marc S., Wilson, Richard, Bick, David, Bottinger, Erwin P., Brilliant, Murray H., Eng, Charis, Frazer, Kelly A., Korf, Bruce, Ledbetter, David H., Lupski, James R., Marsh, Clay, Mrazek, David, Murray, Michael F., O’Donnell, Peter H., Rader, Daniel J., Relling, Mary V., Shuldiner, Alan R., Valle, David, Weinshilboum, Richard, Green, Eric D., Ginsburg, Geoffrey S.·2013·Genetics in Medicine
DOI 10.1038/gim.2012.157
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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.

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Metadata

Authors
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., Relling, M. V., Shuldiner, A. R., Valle, D., Weinshilboum, R., Green, E. D., & Ginsburg, G. S.
Venue
Genetics in Medicine
Publisher
Elsevier BV
Published
2013-04
Volume
15
Issue
4
Pages
258-267
ISSN
1098-3600 (ISSN-L)
DOI
10.1038/gim.2012.157
OpenAlex
W1999808841
Cited by
566
References
47
FWCI
38.44
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: Implementing genomic medicine in the clinic: the future is here. https://app.cochat.ai/papers/10.1038/gim.2012.157
The paper
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. https://doi.org/10.1038/gim.2012.157

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.