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Select A Chapter PART I: Fundamentals     Chapter 1     Chapter 4    ------------------------------------------------ PART II: Methods and Approaches I     Chapter 5     Chapter 7     Chapter 9     Chapter 10    ------------------------------------------------ PART III: Methods and Approaches II Chapter 11    ------------------------------------------------ PART IV: Case Studies     Chapter 22     Chapter 23     Chapter 24     Chapter 28     Chapter 29

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Part I:
Fundamentals

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Chapter 1 Tables

Human Genome Epidemiology: Scope and Strategies

Muin J. Khoury, Julian Little, Wylie Burke

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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, http://www.cdc.gov/genomics/update/current.htm

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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	70
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 Epidemiology

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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