Closing the gap between knowledge and clinical application: challenges for genomic translation.
PLoS Genet
; 11(2): e1004978, 2015.
Article
in En
| MEDLINE
| ID: mdl-25719903
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genomics
/
Precision Medicine
/
Translational Research, Biomedical
/
Neoplasms
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limits:
Humans
Language:
En
Journal:
PLoS Genet
Journal subject:
GENETICA
Year:
2015
Document type:
Article
Affiliation country:
United States