1. The Human genome project
Laura Capps, Danielle Martin, Sarah Mitchell

2. Connection to Biology 206 Genetics
Errors in the process of meiosis can be detected using the HGP
Inheritance of traits can be mapped
Laura

3. video
Sarah

4. The human genome project
Primary objective: to produce sequences for human DNA
Other objectives
Know location and function of genes
Identify 20,000-25,000 genes
Transfer related technology to private sector
Address ethical, legal and social issues from project
Demo, Danielle

5. The human genome project
International effort
United Kingdom, USA, Japan, France, etc.
Time/Cost
13 years:
$3 billion
Danielle

6. Benefits Early detection of genetic diseases
Cystic Fibrosis, PKU, congenital heart defects, Alzheimer's, Huntington's Disease
Early detection = Early treatment
Better understanding of DNA and genetics
Connections between humans and other animals
Societal Advancement
Advances in Medicine: gene therapy
Advances in Forensics: DNA identification
Advances in Agriculture: livestock breeding
Sarah

7. Benefits (cont.) Economic More jobs needed
Test administers
Geneticists to explain results
Clinical Social Workers
Psychologists
Return on Government Investment
$1 spent = $141 returned
Sarah

8. risks Too much knowledge can be overwhelming Social Ramifications
People may not know what to do with it
Genetic dispositions don’t always equate to physical manifestations of conditions
Large sections of DNA have unknown meanings
Social Ramifications
Different social treatments by other kids, parents and teachers
Privacy
Government usage
Insurance Companies
Danielle

9. Risks (cont.) Costs Initial Testing
Extra Tests to confirm results/check for false positives
Hospitals will need extra personnel for test administration and result explanation
Danielle

10. ethics Informed Consent Privacy
Genetic terminology can be hard for parents to understand
Consent could not be completely informed
Privacy
What happens to information?
Who controls information?
Laura

11. Ethics (cont.) Psychological Economics Government
Incurable diseases/disorders
Economics
Inability to pay for treatment for diseases/disorders
Government
Mandated screening
Laura

12. Education connections
Autism and Other Intellectual Disabilities
Deletions/Duplications in same regions
Could be basis for genetic cause of autism and other IDs
Down Syndrome
Genetic basis: Trisomy 21
Early Detection = Early Treatment
Therapy
Education
Laura

13. Questions for you!
Do you think this is an area of research worthy of pursuing?
As a parent, after hearing all this information, would you want your child to undergo genetic screening?
Would you like to know what your genome says?
Sarah

14. references
Mefford, H.C., Batshaw, M.L., & Hoffman, E.P. (2012). Genomics, Intellectual Disability, and Autism. New England Journal of Medicine, 366,
Goldenberg AJ, Sharp RR. (2012). The ethical hazards and programmatic challenges of genomic newborn screening. JAMA, 307,
Ormond KE, Wheeler MT, Hudgins L, et al. (2010). Challenges in the clinical application of whole-genome sequencing. Lancet, 375(9727):
HGP Website:

15. References (Cont.)
Garavelli, D. (31 March 3013). Genetic markers: The dilemmas of discovering destiny. Retrieved March 31,
Carr, J. P. (July 2012). Data Show that Federal Investment in Research Pays Dividends. Retrieved March 31, 2013, from