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

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

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

Amazing Progress in Genomics: Pathogen Genomics and Public Health

Rapid Progress in Human Genomics: Evidence Gaps Remain Science 2011

Three-Tier Classification of Genomic Applications in Practice Tier 1: 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: 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: 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.

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

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

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

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 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 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 Develop metrics for measuring progress at the population level: “what gets measured gets done” e.g., Healthy People 2020

Three Tier 1 Genomic applications can make a difference today and are not been optimally implemented ConditionPopulation Intervention Family-based Cascading Hereditary Breast/ Ovarian Cancer USPSTF 2005 (people with high risk family history) USPSTF 2005 (families with known mutations) Lynch SyndromeEGAPP 2009 (all new CRC cases) EGAPP 2009 (relatives of Lynch syndrome) Familial Hyper- cholesterolemia USPSTF 2008 (cholesterol screening starting at age 20 for people with family history of early heart disease) NICE 2008 (relatives of FH patients)

RB case history and photo RB case history and photo Implementation: Blind Men and the Elephant Lab Issues Regulations Healthcare System Communities Policy Makers Providers Families Public Health System

Implementation: Multilevel Interventions (The Onion)

Implementation: Reinventing the Wheel (Public Health)

Implementation: Reinventing the Pyramid (Health Impact)

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

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