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

Khoury, Muin J.

doi:10.1001/jama.2017.6315

Cited by 30 publications

(32 citation statements)

References 5 publications

(12 reference statements)

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“…In addition, direct-to-consumer genetic testing has been on the rise even with no or limited evidence of clinical validity and utility. Normally, evidentiary frameworks for genetic testing require establishing the clinical validity and utility of testing for a specific intended use [ 7 ]. This approach may present an insurmountable challenge in evaluating genome sequencing, as the human genome sequence can be used to answer numerous questions relevant to healthcare over time.…”

Section: Introductionmentioning

confidence: 99%

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

et al. 2018

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Section: Introductionmentioning

confidence: 99%

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

et al. 2018

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“…BGD should not be viewed as a shortcut for EBM (6). Identifying, describing and analyzing pertinent evidence is essential for BGD, as for any type of evidence.…”

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

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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.

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“…This ‘real’ state of affairs is influencing the implementation of genomics into routine care in the absence of evidence-based, ‘ideal’ approaches. A lack of implementation science evidence is one of the long list of well-documented challenges limiting the effective implementation of genomic research into complex healthcare systems 2. A 2017 review highlighted the lag in evidence to support implementation, demonstrating that very few studies to date have: (1) incorporated implementation science theoretical frameworks, sustainability measures or capacity building, (2) focused on macrolevel factors (eg, health systems, policies, financing) and (3) attempted to develop and evaluate evidence-based strategies for enhancing the implementation of genomic medicine 3…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, understanding and planning for the management of such changes will be key for successful long-term implementation 9. Third, individual-level behavioural change : the implementation of genomics into clinical practice will inevitably require both clinical and administrative practice change 2 27…”

Section: Introductionmentioning

confidence: 99%

A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol

et al. 2019

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IntroductionTranslating scientific advances in genomic medicine into evidence-based clinical practice is challenging. Studying the natural translation of genomics into ‘early-adopting’ health system sectors is essential. We will (a) examine 29 health systems (Australian and Melbourne Genomics Health Alliance flagships) integrating genomics into practice and (b) combine this learning to co-design and test an evidence-based generalisable toolkit for translating genomics into healthcare.Methods and analysisTwenty-nine flagships integrating genomics into clinical settings are studied as complex adaptive systems to understand emergent and self-organising behaviours among inter-related actors and processes. The Effectiveness–Implementation Hybrid approach is applied to gather information on the delivery and potential for real-world implementation. Stages ‘1’ and ‘2a’ (representing hybrid model 1) are the focus of this protocol. The Translation Science to Population Impact (TSci Impact) framework is used to study policy decisions and service provision, and the Theoretical Domains Framework (TDF) is used to understand individual level behavioural change; both frameworks are applied across stages 1 and 2a. Stage 1 synthesises interview data from 32 participants involved in developing the genomics clinical practice systems and approaches across five ‘demonstration-phase’ (early adopter) flagships. In stage 2a, stakeholders are providing quantitative and qualitative data on process mapping, clinical audits, uptake and sustainability (TSci Impact), and psychosocial and environmental determinants of change (TDF). Findings will be synthesised before codesigning an intervention toolkit to facilitate implementation of genomic testing. Study methods to simultaneously test the comparative effectiveness of genomic testing and the implementation toolkit (stage 2b), and the refined implementation toolkit while simply observing the genomics intervention (stage 3) are summarised.Ethics and disseminationEthical approval has been granted. The results will be disseminated in academic forums and used to refine interventions to translate genomics evidence into healthcare. Non-traditional academic dissemination methods (eg, change in guidelines or government policy) will also be employed.

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

Cited by 30 publications

References 5 publications

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

Evidence-based medicine and big genomic data

A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol

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