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Part I: Fundamentals Chapter 1 Tables

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Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease




Human Genome Epidemiology: Scope and Strategies

Muin J. Khoury, Julian Little, Wylie Burke

Table 1-1
Selected Web-based News Stories Headlines Reporting on Association of Genes With Various Health Outcomes
Headline Source Date
Gene may trigger idiopathic epilepsy Health News UK March 2003
Flesh eating disease linked to gene differences New Scientist November, 2002
Genetic variant may impact smoking cessation EurekAlert November, 2002
Genes influence heart disease risk from fatty diet Reuter’s Health October, 2002
Two genes linked to congestive heart failure New York Times October, 2002
Genes may play a role in carpal tunnel syndrome Reuter’s Health July 2002
Gene implicated in stress-alcohol connection Reuter’s Health May 2002
Genetic variants put some patients at risk for particular drug reactions ScienceDaily April 2002
Osteoarthritis gene breakthrough BBC News April 2002

Source: Office of Genomics and Disease Prevention. Genomics Weekly Update,

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Table 1-2
Vision of Genomic Medicine in the Year 2010: Results of Genetic Testing in a Hypothetical Patient
Condition Genes Relative Risk Lifetime Risk (%)
Prostate cancer HPC1, 2 and 3 0.4 7
Alzheimer disease APOE, FAD3, XAD 0.3 10
Coronary artery disease APOB, CETP 2.5 7
Colon cancer FCC4, APC 4.0 23
Lung cancer NAT2 6.0 40

Source: Adapted from Collins (12)

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Table 1-3
From Gene Discovery to Applications: Examples of the Role of the Public Health Sciences
Field Question
Epidemiology What are the risks?
Policy What is the value-added of using genetic information to target interventions? (e.g., don’t we want every one to stop smoking?)
Communication What is the best way to communicate risk information?
Economics Is it cost-effective to do genetic testing?
Outcomes research How do we measure the impact of genetic information on health, personal and social outcomes?

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Table 1-4
From Gene Discovery to Applications: The Continuum of Human Genome Epidemiolog
Field Application Types of Studies
Genetic epidemiology Gene discovery linkage analysis, family-based association studies
Molecular epidemiology Gene characterization population studies to characterize gene prevalence, gene-disease associations, and gene-gene and gene-environment interaction
Applied epidemiology/ Heath services research Evaluating health impact Studies to evaluate validity and utility of genetic information in clinical trials or observational clinical settings (clinical epidemiology) or population setting (public health epidemiology)

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Table 1-5
Types and Examples of Human Genome Epidemiology Studies
Type of Study Study Designs Examples
Gene discovery Linkage analysis methods Body mass index(53) Attention deficit disorder(54) Type 2 diabetes (55) Celiac disease (56)
Gene characterization Population prevalence Prevalence of HFE mutations in the United States (57)
  Genotype-disease associations Transforming growth factor beta-diabetic retinopathy (58)
  Gene-gene and gene- environment interaction Multiple gene polymorphisms and dietary interactions in colorectal adenoma (59)
Application of genetic information Evaluating validity & utility of genetic tests for clinical use Assessment of interleukin-1 genotype testing for chronic periodontitis (60)
    Characteristics of individuals tested for BRCA1/2 (61)
  Evaluating utility of genetic tests for population screening Assessment of testing for HFE mutations in population screening for iron overload(62)

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Table 1-6
Role of Epidemiology in the Study of Human Diseases in Relation to Paradigm Shifts in Biology and Medicine
20th Century 21st Century Role of Epidemiology
Genetic Diseases All Diseases Will use genetic variants routinely in the study of gene-environment in disease
Genomics Proteomics Will use biological markers of exposure, susceptibility and outcomes
Gene mapping Gene sequencing + variant discovery Will evaluate allelic variants in relation to health outcomes
One gene Multiple genes Will assess complex genotypes
Gene action Gene regulation Will evaluate structural and regulatory genes as disease risk factors
Diagnostic testing Susceptibility testing Will provide a basis for assessing clinical validity of genetic tests for disease susceptibility

Source: Adapted from Peltonen and McKusick (33)

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