Muin J. Khoury MD, PhD Office of Public Health Genomics, CDC
Jan 15, 2016
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!