The current state of implementation science in genomic medicine: opportunities for improvement

Roberts, Megan C.; Kennedy, Amy E.; Chambers, David A.; Khoury, Muin J.

doi:10.1038/gim.2016.210

Cited by 109 publications

(118 citation statements)

References 18 publications

Supporting

Mentioning

114

Contrasting

Order By: Relevance

“…For example, Roberts et al concluded from a literature review that “although genomic discovery provides the potential for population health benefit, the current knowledge base around implementation to turn this promise into a reality is severely limited” (23). Another example is our findings on comparative effectiveness research studies of precision medicine, based on a structured literature review and expert assessment of gaps (24).…”

Section: Precision Medicine – Where Are We Today?mentioning

confidence: 99%

Precision Medicine: From Science To Value

2018

View full text Add to dashboard Cite

Precision medicine is poised to have an impact on patients, health care delivery systems and research participants in ways that were only imagined 15 years ago when the human genome was first sequenced. While discovery using genome-based technologies has accelerated, these have only begun to be adopted into clinical medicine. Here we define precision medicine and the stakeholder ecosystem required to enable its integration into research and health care. We explore the intersection of data science, analytics and precision medicine in creating a learning health system that carries out research in the context of clinical care and at the same time optimizes the tools and information used to delivery improved patient outcomes. We provide examples of real world impact, and conclude with a policy and economic agenda that will be necessary for the adoption of this new paradigm of health care both in the United States and globally.

show abstract

Section: Precision Medicine – Where Are We Today?mentioning

confidence: 99%

Precision Medicine: From Science To Value

2018

View full text Add to dashboard Cite

show abstract

“…It is currently unclear who is the best genomic interlocutor of the patient/individual (trained clinicians, genetic counselors and others) and how best to implement the use of genomic information. A systematic review of 283 implementation studies for genetic information concludes that there is very weak evidence and no solid conclusions (8). The complexity of interpreting genomic information (9) makes simplified solutions unrealistic.…”

Section: Should the Principles Of Evidence-based Medicine Change Withmentioning

confidence: 99%

Evidence-based medicine and big genomic data

Ioannidis

Khoury

2018

Human Molecular Genetics

View full text Add to dashboard Cite

Genomic and other related big data (Big Genomic Data, BGD for short) are ushering a new era of precision medicine. This overview discusses whether principles of evidence-based medicine hold true for BGD and how they should be operationalized in the current era. Major evidence-based medicine principles include the systematic identification, description and analysis of the validity and utility of BGD, the combination of individual clinical expertise with individual patient needs and preferences, and the focus on obtaining experimental evidence, whenever possible. BGD emphasize information of single patients with an overemphasis on N-of-1 trials to personalize treatment. However, large-scale comparative population data remain indispensable for meaningful translation of BGD personalized information. The impact of BGD on population health depends on its ability to affect large segments of the population. While several frameworks have been proposed to facilitate and standardize decision making for use of genomic tests, there are new caveats that arise from BGD that extend beyond the limitations that were applicable for more simple genetic tests. Non-evidence-based use of BGD may be harmful and result in major waste of healthcare resources. Randomized controlled trials will continue to be the strongest arbitrator for the clinical utility of genomic technologies, including BGD. Research on BGD needs to focus not only on finding robust predictive associations (clinical validity) but also more importantly on evaluating the balance of health benefits and potential harms (clinical utility), as well as implementation challenges. Appropriate features of such useful research on BGD are discussed.

show abstract

“…Roberts et al 5 published a systematic review exam- iningthe current state ofthe field of implementation science in genomic medicine. In 2014, 283 published articles evaluated implementation of genomic medicine.…”

Section: What Is the Status Of The Evidence Base In Genomic Medicine?mentioning

confidence: 99%

“…Only a few studies attempted to develop and evaluate evidence-based strategies that can improve implementation of genomic medicine. The authors concluded that “the current knowledge base around implementation science to turn the promise of genomic medicine into reality is severely limited” 5 …”

Section: What Is the Status Of The Evidence Base In Genomic Medicine?mentioning

confidence: 99%

No Shortcuts on the Long Road to Evidence-Based Genomic Medicine

Khoury

2017

JAMA

Self Cite

View full text Add to dashboard Cite

Rapid advances in genomicshave led to a new era of precision medicine, resulting in a substantial increase in the number of genetic tests available for research and clinical practice. As of April 27, 2017, the Genetic Testing Registry, 1 maintained and updated by the National Institutes of Health, contained information on 49 521 tests conducted at 492 laboratories for 10 733 disease conditions involving 16 223 genes. These tests cover a wide variety of diseases, rare and common, for different types of applications such as diagnosis, treatment, and prevention.

show abstract

The current state of implementation science in genomic medicine: opportunities for improvement

Cited by 109 publications

References 18 publications

Precision Medicine: From Science To Value

Precision Medicine: From Science To Value

Evidence-based medicine and big genomic data

No Shortcuts on the Long Road to Evidence-Based Genomic Medicine

Contact Info

Product

Resources

About