Public Health Genomics: Using Genomic Knowledge for Population Health

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Public Health Genomics Using Genomic Knowledge
for Population Health

• Cynthia A. Moore, MD, Ph.D.
• National Office of Public Health Genomics
• Centers for Disease Control and Prevention

The findings and conclusions in this presentation
have not been formally disseminated by the
Centers for Disease Control and Prevention and
should not be construed to represent any agency
determination or policy.
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Almost All Diseases are Caused by
Gene-Environment Interaction
Gene Environment
Genetic
Environmental
e.g., Sickle Cell Anemia
e.g., Injury
Heart Disease Asthma Diabetes Preterm Birth
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Genetics vs. Genomics

• Genetics The study of single genes and their
  effects
• Genomics The study not just of single genes but
  of the functions and interactions of all the
  genes in the genome
• Guttmacher and Collins. New Engl J Med
  20023471512-20.
• Genetics ? Genomics A continuum from genetic
  disease to genetic information
• Khoury. Genet Med 20035261-8.

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Genetics Genomics in Health Practice
?

• Genetic Disease
• Mendelian Disorders
• Disease Burden 5
• Mutations/One Gene
• High Disease Risk
• Environment /-
• Genetic Services

• Genetic Information
• All Diseases
• Disease Burden 95
• Variants/Multiple Genes
• Low Disease Risk
• Environment
• General Practice

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Outline

• Global Emergence of Public Health Genomics
• The role of a population perspective
• Expansion of Population-based Research
• What do genomic applications mean for real
  populations?
• Crucial role of Knowledge Synthesis and
  Integration
• How do we find needles in a haystack?
• Need for Public Health Assessment of Genome-based
  Tests and Technologies
• Evidence-based health care

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What is Public Health Genomics?(Bellagio
Report, 2006)

• A multidisciplinary field concerned with the
  effective and responsible translation of
  genome-based knowledge and technologies to
  improve population health

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The Public Health Genomics Enterprise
Genome-based Science and Technology
Improvement in Population Health
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The Public Health Genomics Enterprise
Communication and Stakeholder Engagement
Population Sciences
Informing Public Policy
Knowledge Integration Within And Across Disciplin
es
Genome-based Science and Technology
Improvement in Population Health
Humanities and Social Sciences
Developing and Evaluating Health Services
Education and Training
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Importance of the Epidemiologic Approach to
Genetic InformationBeyond Gene Discovery

• Data from representative populations needed for
  research programs
• Need for population specific data on relative,
  absolute attributable risks
• Data needed to enhance biologic plausibility and
  to develop interventions

• Prevalence
• Associations
• Interactions

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Systematic application of epidemiologic methods
and approaches to assess the impact of human
genetic variation on health and disease
Khoury, Little and Burke, HuGE 2004

• Genotype prevalence
• Gene - disease association
• Gene - gene interactions
• Gene - environment interactions
• Assessment of genetic tests

HuGE problem 25,000 genes, their combinations
and interactions with risk factors
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Population Health Research in the Genomics Era

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Emergence of Global Biobanks and Cohort Studies
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The Public Health Genomics Enterprise
Communication and Stakeholder Engagement
Population Sciences
Informing Public Policy
Knowledge Integration Within And Across Disciplin
es
Genome-based Science and Technology
Improvement in Population Health
Humanities and Social Sciences
Developing and Evaluating Health Services
Education and Training
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Collaboration to Assess Impact
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Human Genome Epidemiology Network (HuGENet)

• Global collaboration of individuals and
  organizations to assess population health impact
  of human genomic variation and how it can be used
  to improve health and prevent disease in
  populations

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Genomic Tests A Public Health Issue

• Potential to affect many people (i.e.,
  pharmacogenomics)
• Potential for enhancing and targeting prevention
  efforts
• Implementation and access
• Provider and public education
• Monitoring impact on population health

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Gene Increases Diabetes Risk, Scientists Find
(New York Times, January 16, 2006)

• Scientists have discovered a variant gene that
  leads to a sizeable extra risk of Type 2 Diabetes
  and is carried by more than a third of
  AmericansAn immediate practical consequence of
  the discovery would be to develop a diagnostic
  test to identify people who carry the variant
  gene. If people knew of their extra risk, they
  would have an incentive to stay thin and
  exercise

Grant et al. Nat Genet Jan 2006
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Knowledge Integration Across Disciplines
Evaluation of Genetic Tests

• For each intended use
• Four components of evaluation
• Analytic Validity
• Clinical Validity
• Clinical Utility
• ELSI
• Define test, disorder, and setting
• Analytic framework 40 targeted questions

http//www.cdc.gov/genomics/activities/fbr.htm
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EGAPP

• CDC-funded pilot project
• Non-regulatory
• Independent, non-federal, multidisciplinary
  Working Group
• Minimize conflicts of interest
• Integrates existing processes for evaluation and
  appraisal
• Evidence-based, transparent, and publicly
  accountable

• Evaluation of
• Genomic
• Applications in
• Practice and
• Prevention

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Evaluation of Genomic Applications in Practice
and Prevention (EGAPP)
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Genomic profiling to promote a healthy
lifestyle not ready for prime time Haga S et
al. Nat Genet 2003
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The Public Health Genomics Enterprise
Genome-based Science and Technology
Improvement in Population Health
Closing the Gap Between Gene Discovery and
Population Health
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Public Health Genomics at CDC www.cdc.gov/genomics