The EGAPP initiative: lessons learned : Genetics in Medicine : Nature Publishing Group
Genetics in Medicine | Review
The EGAPP initiative: lessons learned
- Genetics in Medicine
- (2013)
- doi:10.1038/gim.2013.110
- Received
- Accepted
- Published online
The completion of the human genome project was heralded as the dawn of the era of genomic-based personalized medicine. Numerous factors, however, have complicated the translation of scientific findings into clinical genomic testing with measurable health outcomes. The responsible integration of genomic technologies into medical care poses challenges to health-care providers, consumers, and other stakeholders. These emerging genomic applications to health care have been discovered by a scientific community that may have complex ties to industry and that is championed by strong public advocates and protected from rigorous scrutiny under the philosophy of genetic exceptionalism; in addition, these genomic applications are provided via direct access through advertising to a public with few resources for objective information.
Nonetheless, the potential of the human genome project to fundamentally change our understanding of disease causation cannot be overstated. The ability to tailor clinical and public health interventions to individuals or populations on the basis of their predisposition to diseases or response to treatment remains an inspiring goal of genomic medicine, and novel genomic diagnostics are allowing molecular targeting of therapies. As in any translation of new technology to health care, critical issues in genomic testing are now being defined. Little consensus exists among key stakeholders regarding the framework for developing, implementing, and evaluating genomic testing, and there are often sparse clinical data supporting the utilization of genomic testing in caring for patients. There are gaps in knowledge and oversight that could lead to serious harms.1 While working toward the realization of the potential of genomics to improve health, it is imperative to implement processes that can protect individuals from the potential harms of premature implementation of genomic testing while supporting innovations that may produce significant improvements in health. It was in response to this imperative that the Centers for Disease Control and Prevention created the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative. The EGAPP initiative was designed to support the translation of scientific evidence on genomic testing into clinical practice. This article outlines the lessons learned from the EGAPP initiative, in the context of efforts of various professional, governmental, and private entities to consider how to advance genomic science along the translational continuum from bench to bedside while also addressing current and future challenges to genomics research.
Nonetheless, the potential of the human genome project to fundamentally change our understanding of disease causation cannot be overstated. The ability to tailor clinical and public health interventions to individuals or populations on the basis of their predisposition to diseases or response to treatment remains an inspiring goal of genomic medicine, and novel genomic diagnostics are allowing molecular targeting of therapies. As in any translation of new technology to health care, critical issues in genomic testing are now being defined. Little consensus exists among key stakeholders regarding the framework for developing, implementing, and evaluating genomic testing, and there are often sparse clinical data supporting the utilization of genomic testing in caring for patients. There are gaps in knowledge and oversight that could lead to serious harms.1 While working toward the realization of the potential of genomics to improve health, it is imperative to implement processes that can protect individuals from the potential harms of premature implementation of genomic testing while supporting innovations that may produce significant improvements in health. It was in response to this imperative that the Centers for Disease Control and Prevention created the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative. The EGAPP initiative was designed to support the translation of scientific evidence on genomic testing into clinical practice. This article outlines the lessons learned from the EGAPP initiative, in the context of efforts of various professional, governmental, and private entities to consider how to advance genomic science along the translational continuum from bench to bedside while also addressing current and future challenges to genomics research.
The EGAPP initiative: lessons learned : Genetics in Medicine : Nature Publishing Group
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