What is genomics

1
(No Transcript)
2
Genomics 101 An Introduction

• Wisconsin Division of Public Health

3
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.
  3471512-1520.)

4
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)

5
U.S. Department of Energy Human Genome Project
www.ornl.gov/hgmis
6
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.

7
Traditional Public HealthGenetics

• Rare diseases
• Single gene disorders
• Public health activities
• Newborn screening
• Reproductive health
• Genetic services

8
Contemporary Public Health Genetics

• Common diseases
• Multiple genes
• Gene/environment interactions
• Public health activities/implications
• Chronic diseases
• Infectious diseases
• Environmental health
• Epidemiology

9
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.

10
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.

11
Genetic Mutations (cont.)

• Genetic mutations have been identified that play
  a role in
• Chronic diseases
• Cancer
• Cardiovascular disease
• Occupational diseases
• Bladder cancer
• Infectious diseases
• HIV/AIDS

12
Genes and 10 U.S. Killers2000 Preliminary Data

• Heart disease
• Malignant neoplasms
• Cerebrovascular diseases
• Chronic lowerrespiratory diseases
• Accidents (unintentional injuries)
• Diabetes mellitus

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

(Source Centers for DiseaseControl and
Prevention)
13
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
  humangenes.
• The final draft of the genome was published in
  April 2003.

14
Whats new in genomics?

• Genetic testing
• To detect mutations
• For disease diagnosis and prognosis
• For the prediction of disease risk in
  individuals or families

15
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)

16
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

17
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

18
Whats new in genomics? (cont.)

• Policy developments related togenomics include
• Activities related to anti-discrimination and
  ethics
• Expanded newborn screening
• New funding for research on rare diseases

19
Resources

• ASTHO Genetics Program
• www.astho.org/?template1genetics.html
• Centers for Disease Control and Prevention
  Office of Genomics and Disease Prevention
• www.cdc.gov/genomics
• Health Research and Services AdministrationGeneti
  c Services Branch
• http//mchb.hrsa.gov/
• National Human Genome Research Institute
• www.genome.gov