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

1 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

Disclosures 2 • Funded by intramural National Cancer Institute funds • The authors have no conflicts of interest • The views and opinions expressed in this presentation are those of the speaker and do not necessarily represent the views of the Department of Health and Human Services

Study Rationale 3 1990

Study Rationale 4 Implementation Science 1990

Study Rationale 5 Evidence Gap: To what extent does Implementation translational research in genomic Science medicine include implementation science approaches? 1990

Study Objectives 6 • To identify and describe… Overlap in implementation science and genomic medicine 1. Major gaps in the field 2.

Methods: Systematic Literature Review 7 (https://phgkb.cdc.gov/GAPPKB)

Methods: Inclusion Criteria 8 • 2014 literature • Inclusion criteria: implementation of genetic/-omic testing, genetic counseling, and family history collection Full Text Abstract Review Review N=626 N=484 N=283

Methods: Codebook 9 • Codebook adapted from NIH portfolio review of implementation science • 10% double-coded • Data aggregation and summary statistics

Results: Study Design 10 • Individual level unit of analysis (94%) • Quantitative methods (80.6%) • Cross sectional (68.9%) • Clinical setting (65.5%) • Race and ethnicity reported (41%)

Results: Race and Ethnicity 11 1 Proportion of Studies with Missing Data 0.8 0.6 0.4 0.2 0 White Black Asian Hispanic Race/Ethnicity

Results: Race and Ethnicity 12 100 % Study Population 80 (median) 60 40 20 0 White Black Asian Hispanic Race/ethnicity

Results: Implementation Outcomes 13 Sustainability, • Majority of studies described <1% Multiple, Hybrid effectiveness, • Attitudes and/or preferences 10.25% 1.77% • Rarely described Adoption, 3.89% • Sustainability indicators • Implementation science Dissemination, frameworks 19.08% Implementation, • Collaborative processes 64.66%

Results: Genomic Medicine Outcomes 14 Cancer Treatment 8% Cancer Prevention 12% Prenatal Testing Newborn Screening Pharmacogenomics 16% Cardiovascular 29% 0% 0% General Clinical Sequencing Undiagnosed Diseases 1% Tobacco Diet/Nutrition * 2% Obesity * 10% Other 3% 9% Multiple 5% 5% * Values <1%

Results: Genomic Medicine Outcomes 15 Cancer Treatment 8% Cancer Prevention 12% Prenatal Testing Newborn Screening Pharmacogenomics 16% 0% 0% Cardiovascular 29% General Clinical Sequencing Undiagnosed Diseases 1% Tobacco Diet/Nutrition * 2% Obesity * 10% Other 3% 5% 9% Multiple 5% * Values <1%

Results: Genomic Medicine Outcomes 16 • 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%)

Conclusions: Opportunities for Improvement 17 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 19 • Muin Khoury • Sheri Schully • David Chambers • George Mensah • Amy Kennedy • Teri Manolio • Mindy Clyne • Cancer Prevention Fellowship Program • Ann Cashion • William Klein • Denise Lowe • Bob Wildin

Questions? 20 • 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)

BACK UP SLIDES 21

Inclusion Criteria 22 Inclusion Criteria* Notes Broadly-defined Effectiveness Studies (n=133) For the purposes of inclusion, this criterion includes effectiveness studies examining not only health outcomes, but also clinical utility, uptake, costs, health outcomes 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 Includes impact of media or advertising on awareness, awareness/knowledge/attitudes/perceptions/needs about includes providers’ perspectives on readiness to deliver genetic testing (n=141) 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)

Exclusion Criteria 23 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

Distinguished between Dissemination and 24 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)