Muin J. Khoury MD, PhD Office of Public Health Genomics, CDC

1. Muin J. Khoury MD, PhD Office of Public Health Genomics, CDC

4. CDC Winnable Battles – 6 Areas Where Public Health can Have a Substantial Impact • Each area is a leading cause of illness, injury, disability, or death • Evidence-based interventions already exist and can be broadly implemented • Where our effort can make a difference • We can get results within 1 and 4 years though not easy

5. CDC Winnable Battles – 6 Areas Where Public Health can Have a Substantial Impact Motor Vehicle Injuries Tobacco Obesity, Nutrition, Physical Activity and Food Safety Teen and Unintended Pregnancy Healthcare- AssociatedInfections HIV

6. Amazing Progress in Genomics:Pathogen Genomics and Public Health

7. Rapid Progress in Human Genomics: Evidence Gaps Remain Science 2011

9. Three-Tier Classification of Genomic Applications in Practice • Tier 1: Recommended for clinical use by evidence-based panels based on systematic review of analytic validity, clinical validity and utility for specific clinical scenarios • Tier 2: Demonstrated analytic and clinical validity; hold promise for clinical utility but evidence-based panels have not examined their use or found insufficient evidence for their use. Such applications may provide information for informed decision making by providers and patients • Tier 3: Not demonstrated analytic validity, clinical validity, or clinical utility. This also includes applications for which evidence-based panels have recommended against their use based on the synthesis of the balance of benefits and harms. Such applications are not ready for routine practice, but may be considered in clinical and population research.

10. http://www.cdc.gov/genomics/gtesting/tier.htm

13. Selected Tier 1 Genomic Applications:What’s in Common? • Genetic autosomal dominant disorders with adult onset • Relatively common (collectively 1-2 million in the USA) • Effective interventions that reduce morbidity and mortality • Evidence based recommendations • Poorly ascertained by health care system • Involves family history and cascading interventions • Can be integrated into public health programs (Cancer and Heart Disease Programs) • Could serve as models for similar genomic applications • Only the tip of the iceberg

14. WWMD? M for Michigan Massachusetts Missouri Mississippi Montana Maryland Maine Etc..

15. WWMD: Arguments for No action? No resources No mandate Too complicated Not a priority Not a big enough impact compared to other interventions Not a public health issue

16. Selected Tier 1 Genomic Applications:Developing A Common Vision and Approach • Develop a population approach to ascertain people requiring intervention based on evidence-based recommendations (population & relatives for cascade testing) • Develop and apply population interventions: Education, policy change, public health program (ala newborn screening), health system quality improvements, other… • Develop metrics for measuring progress at the population level: “what gets measured gets done” e.g., Healthy People 2020

17. Three Tier 1 Genomic applications can make a difference today and are not been optimally implemented

18. RB case history and photo Lab Issues Public Health System Healthcare System Regulations Communities Families Policy Makers Providers Implementation: Blind Men and the Elephant http://www.nature.com/ki/journal/v62/n5/fig_tab/4493262f1.html

19. Implementation: Multilevel Interventions (The Onion)

20. Implementation: Reinventing the Wheel (Public Health)

21. Implementation: Reinventing the Pyramid (Health Impact)

22. Selected Tier 1 Genomic Applications:Critical Success Factors • Integration into existing programs • Interventions at multiple levels • Community engagement and buy in • True medicine-public health collaboration • Champions • Metrics, metrics……

23. Thank you for helping shape the future of public health genomics!