Genomics 101: An Introduction

Wisconsin Division of Public Health

What is genomics?

Genomics is the study of functions and interactions of all the genes in the genome, including their interactions with environmental factors.
(Source: Collins, Francis, and Alan Guttmacher. Genomic MedicineA Primer, NEJM, Vol. 347:1512-1520.)

Genomics 101: An Introduction

What is genomics? (cont.)

A genome is all the DNA contained in an organism or a cell, which includes both the chromosomes within the nucleus and the DNA in mitochondria all our genes together.
(Source: National Human Genome Research Institute)

Genomics 101: An Introduction

Genomics 101: An Introduction

What is genomics? (cont.)

From a public health perspective, genomics is the study of the gene-environment-host interaction that leads to disease or disease prevention in populations.

Genomics 101: An Introduction

Traditional Public Health Genetics

Rare diseases Single gene disorders Public health activities

Newborn screening Reproductive health Genetic services

Genomics 101: An Introduction

Contemporary Public Health Genetics

Common diseases Multiple genes Gene/environment interactions Public health activities/implications

Chronic diseases Infectious diseases

Environmental health
Epidemiology
Genomics 101: An Introduction

Genetic Mutations

All of us may have at least one genetic mutation.

Some are inherited.

Others occur randomly or as a result

of environmental factors, such as diet, drugs, and infections.

Genomics 101: An Introduction

Genetic Mutations (cont.)

Most diseases have multifactorial causation (genetic and environmental). Genetic variations put individuals at increased risk for developing certain diseases, but they do not make it certain that those diseases will occur.

Genomics 101: An Introduction

Genetic Mutations (cont.)

Genetic mutations have been identified that play a role in:

Chronic diseases

Cancer Cardiovascular disease

Bladder cancer HIV/AIDS

Occupational diseases

Infectious diseases

Genomics 101: An Introduction

Genes and 10 U.S. Killers: 2000 Preliminary Data

Heart disease Malignant neoplasms Cerebrovascular diseases Chronic lower respiratory diseases Accidents (unintentional injuries) Diabetes mellitus

Influenza and pneumonia Alzheimers disease Nephritis, nephrotic syndrome, and nephrosis (kidney disease) Septicemia

(Source: Centers for Disease Control and Prevention)

Genomics 101: An Introduction

The Human Genome Project

A public-private collaborative, supported by the National Institutes of Health and the U.S. Department of Energy, that is mapping all human genes. The final draft of the genome was published in April 2003.
Genomics 101: An Introduction

Whats new in genomics?

Genetic testing
To detect mutations

For disease diagnosis and prognosis

For the prediction of disease risk in individuals or families

Genomics 101: An Introduction

Whats new in genomics? (cont.)

Several hundred genetic tests are in use.

Rare genetic disorders (muscular

dystrophies, cystic fibrosis, Huntingtons disease)

Complex conditions (breast, ovarian,

and colon cancers)

Genomics 101: An Introduction

Whats new in genomics? (cont.)

Pharmacogenomics
The development of drugs tailored to specific

subpopulations based on genes

Pharmacogenomics has the potential to:

Decrease side effects of drugs Increase drug effectiveness Make drug development faster and less costly

Genomics 101: An Introduction

Whats new in genomics? (cont.)

Recent research in genomics includes:

Learning more about the genetic

underpinnings of chronic diseases

Developing mouse models of human genes
Developing genetic fingerprinting

for childhood cancer

Conducting stem cell research Identifying tumor suppressor genes

Genomics 101: An Introduction

Whats new in genomics? (cont.)

Policy developments related to genomics include:

Activities related to anti-discrimination and ethics

Expanded newborn screening

New funding for research on rare diseases

Genomics 101: An Introduction

Resources
ASTHO Genetics Program
www.astho.org/?template=1genetics.html

Centers for Disease Control and Prevention

Office of Genomics and Disease Prevention

www.cdc.gov/genomics

Health Research and Services Administration

Genetic Services Branch

http://mchb.hrsa.gov/

National Human Genome Research Institute

www.genome.gov

Genomics 101: An Introduction