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- AssociatedInfections

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 1Tier 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 2Tier 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 3Tier 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.

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

Selected Tier 1 Genomic Applications:What’s in Common?

Genetic autosomal dominant disorders with adult onsetGenetic 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 Effective interventions that reduce morbidity and

mortalitymortality Evidence based recommendationsEvidence based recommendations Poorly ascertained by health care systemPoorly ascertained by health care system Involves family history and cascading interventionsInvolves family history and cascading interventions Can be integrated into public health programs (Cancer Can be integrated into public health programs (Cancer

and Heart Disease Programs)and Heart Disease Programs) Could serve as models for similar genomic applicationsCould serve as models for similar genomic applications Only the tip of the icebergOnly the tip of the iceberg

WWMD? M for

MichiganMassachusettsMissouriMississippiMontanaMarylandMaineEtc..

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 Develop a population approach to ascertain people

requiring intervention requiring intervention based on evidence-based based on evidence-based recommendations (population & relatives for cascade recommendations (population & relatives for cascade testing)testing)

Develop and apply population interventionsDevelop and apply population interventions: : Education, policy change, public health program (ala Education, policy change, public health program (ala newborn screening), health system quality newborn screening), health system quality improvements, other… improvements, other…

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

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

Condition Population Intervention

Family-basedCascading

Hereditary Breast/Ovarian Cancer

USPSTF 2005 (people with high risk family history)

USPSTF 2005(families with known mutations)

Lynch Syndrome EGAPP 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 photoRB case history and photo

Implementation: Blind Men and the Elephant http://www.nature.com/ki/journal/v62/n5/fig_tab/4493262f1.html

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 programsIntegration into existing programs

Interventions at multiple levelsInterventions at multiple levels

Community engagement and buy inCommunity engagement and buy in

True medicine-public health collaborationTrue medicine-public health collaboration

ChampionsChampions

Metrics, metrics……Metrics, metrics……

Thank you for helping shape the future of

public health genomics!