Science in Genomic Medicine: Opportunities for Improvement Megan C. - - PowerPoint PPT Presentation

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The Current State of Implementation Science in Genomic Medicine: Opportunities for Improvement

Megan C. Roberts, Amy Kennedy, David Chambers, Muin Khoury Division of Cancer Control and Population Sciences National Cancer Institute

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Disclosures

• Funded by intramural National Cancer Institute funds
• The authors have no conflicts of interest
• The views and opinions expressed in this presentation are those
• f the speaker and do not necessarily represent the views of the

Department of Health and Human Services

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Study Rationale 1990

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Implementation Science

Study Rationale 1990

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Implementation Science

Study Rationale 1990

Evidence Gap: To what extent does translational research in genomic medicine include implementation science approaches?

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Study Objectives

• To identify and describe…

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Overlap in implementation science and genomic medicine

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Major gaps in the field

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Methods: Systematic Literature Review

(https://phgkb.cdc.gov/GAPPKB)

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Methods: Inclusion Criteria

• 2014 literature
• Inclusion criteria: implementation of genetic/-omic testing, genetic

counseling, and family history collection

N=626 N=484 N=283

Abstract Review Full Text Review

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Methods: Codebook

• Codebook adapted from NIH portfolio review of implementation

science

• 10% double-coded
• Data aggregation and summary statistics

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Results: Study Design

• Individual level unit of analysis (94%)
• Quantitative methods (80.6%)
• Cross sectional (68.9%)
• Clinical setting (65.5%)
• Race and ethnicity reported (41%)

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Results: Race and Ethnicity

0.2 0.4 0.6 0.8 1 White Black Asian Hispanic Proportion of Studies with Missing Data Race/Ethnicity

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Results: Race and Ethnicity

20 40 60 80 100 White Black Asian Hispanic % Study Population (median) Race/ethnicity

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Implementation, 64.66% Dissemination, 19.08% Adoption, 3.89% Hybrid effectiveness, 1.77% Sustainability, <1% Multiple, 10.25%

Results: Implementation Outcomes

• Majority of studies described
• Attitudes and/or preferences
• Rarely described
• Sustainability indicators
• Implementation science

frameworks

• Collaborative processes

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Results: Genomic Medicine Outcomes

8% 29% 10% 9% 5% 5% 3% 2% 1% 0% 0% 16% 12%

Cancer Treatment Cancer Prevention Prenatal Testing Newborn Screening Pharmacogenomics Cardiovascular General Clinical Sequencing Undiagnosed Diseases Tobacco Diet/Nutrition Obesity Other Multiple

* * * Values <1%

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Results: Genomic Medicine Outcomes

8% 29% 10% 9% 5% 5% 3% 2% 1% 0% 0% 16% 12%

Cancer Treatment Cancer Prevention Prenatal Testing Newborn Screening Pharmacogenomics Cardiovascular General Clinical Sequencing Undiagnosed Diseases Tobacco Diet/Nutrition Obesity Other Multiple

* * * Values <1%

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Results: Genomic Medicine Outcomes

• Genetic/genomic testing or genetic counseling (90.4%), family

history collection (9.6%)

• Germline testing (67.5%)
• Risk assessment (36.4%) or diagnostic (30.4%)

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Conclusions: Opportunities for Improvement

1. Context

• Theory and multilevel contextual factors

2. Real world settings

• Diverse study populations and settings

3. Evidence-based implementation strategies

• Beyond cross-sectional study designs

4. Collaborative processes

• Key stakeholders, sustainability, workforce and costs

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Acknowledgements

• Muin Khoury
• David Chambers
• Amy Kennedy
• Mindy Clyne
• Ann Cashion
• Denise Lowe
• Bob Wildin
• Sheri Schully
• George Mensah
• Teri Manolio
• Cancer Prevention Fellowship

Program

• William Klein

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Questions?

• Chambers, David A., W. Gregory Feero, and Muin J. Khoury. "Convergence of Implementation

Science, Precision Medicine, and the Learning Health Care System: A New Model for Biomedical Research." JAMA 315.18 (2016): 1941-1942.

• Khoury, Muin J., et al. "The continuum of translation research in genomic medicine: how can

we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?." Genetics in Medicine 9.10 (2007): 665-674.

• Manolio, Teri A., et al. "Implementing genomic medicine in the clinic: the future is

here." Genetics in Medicine 15.4 (2013): 258-267.

• Neta, Gila, et al. "Implementation science in cancer prevention and control: a decade of grant

funding by the National Cancer Institute and future directions." Implementation Science 10.1 (2015): 1.

• Powell, Byron J., et al. "A refined compilation of implementation strategies: results from the

Expert Recommendations for Implementing Change (ERIC) project." Implementation Science 10.1 (2015): 1.

• Roberts et al. “The Current State of Implementation Science in Genomic Medicine:

Opportunities for Improvement.” Genetics in Medicine (In Press)

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BACK UP SLIDES

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Inclusion Criteria* Notes Broadly-defined Effectiveness Studies (n=133) For the purposes of inclusion, this criterion includes effectiveness studies examining not only health

• utcomes, but also clinical utility, uptake, costs, health
• utcomes of testing, and guideline adherence.

Comparative Effectiveness (n=16) Patient satisfaction with genetic/genomic testing/counseling (n=14) Efficiency/timeliness of genetic testing or counseling (n=29) Patient/provider/public awareness/knowledge/attitudes/perceptions/needs about genetic testing (n=141) Includes impact of media or advertising on awareness, includes providers’ perspectives on readiness to deliver genetic services, Predictors of willingness to pay for genetic testing (n=4) By insurers or patients Uptake of testing and factors associated with uptake (n=101) Includes barriers and facilitators for uptake of genetic testing/counseling Strategies for recruitment into genetic/genomic research (n=7) Development of surveillance systems (n=2) Workforce (n=3)

Inclusion Criteria

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Exclusion Criteria

Exclusion Criteria Content analysis of guidelines, policies, insurance criteria, literature reviews Predictive/Prognostic Model Validation or Evaluation Efficacy trial of a new test or method Risk factor analysis Case study Article not written in English Prevalence of mutations within a population Discovery/Mechanism of Action Conference Abstract Health services research among carriers or high risk groups that does not include genetic testing/counseling/family history collection Development of measures to assess psychosocial outcomes of mutation carriers Psychosocial outcomes only regarding genetic testing /counseling Not a research study (no methods or results section) Quality assessments without any implementation science components/outcomes

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Distinguished between Dissemination and Implementation Research

• Dissemination: how information about genomic medicine is

“packaged, transmitted, and interpreted among a variety of important stakeholder groups”

• Implementation: efforts to integrate genomic medicine “within

real-world public health, clinical and community service systems”

• To align with agency activities (e.g. funding opportunity

announcements, conferences, training programs)