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PLoS Genet. 2015 Feb 26;11(2):e1004978. doi: 10.1371/journal.pgen.1004978. eCollection 2015.

Closing the gap between knowledge and clinical application: challenges for genomic translation.

Author information

1
Department of Bioethics and Humanities, University of Washington, Seattle, Washington, United States of America.
2
Department of Bioinformatics and Medical Education, University of Washington, Seattle, Washington, United States of America.

Abstract

Despite early predictions and rapid progress in research, the introduction of personal genomics into clinical practice has been slow. Several factors contribute to this translational gap between knowledge and clinical application. The evidence available to support genetic test use is often limited, and implementation of new testing programs can be challenging. In addition, the heterogeneity of genomic risk information points to the need for strategies to select and deliver the information most appropriate for particular clinical needs. Accomplishing these tasks also requires recognition that some expectations for personal genomics are unrealistic, notably expectations concerning the clinical utility of genomic risk assessment for common complex diseases. Efforts are needed to improve the body of evidence addressing clinical outcomes for genomics, apply implementation science to personal genomics, and develop realistic goals for genomic risk assessment. In addition, translational research should emphasize the broader benefits of genomic knowledge, including applications of genomic research that provide clinical benefit outside the context of personal genomic risk.

PMID:
25719903
PMCID:
PMC4342348
DOI:
10.1371/journal.pgen.1004978
[Indexed for MEDLINE]
Free PMC Article

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