The Human Genome Project was a 13-year collaborative international project that was completed in 2003. It had the goals of identifying all the approximately 20,000-25,000 genes of the human DNA, determining the sequences of the chemical base pairs that make up human DNA, and storing this information in databases. The project used both hierarchical shotgun sequencing and whole genome shotgun sequencing techniques, as well as the Sanger dideoxy chain termination method, to fully map the human genome. The project raised several ethical, legal and social issues regarding privacy and use of genetic information.

1. Human Genome
Project
Georgia Stangeland, Melis Colak, Lisa Feng

2. History
• 1990: with the joint cooperation of the United States
Department of Energy and the National Institutes of
Health, the Human Genome Project was initiated
• 1998: Celera Corporation launched a parallel project
to race against the public sector
• 2000: a working draft of the human genome was
completed
• 2001: analyses of the working draft were published
• 2003: the Human Genome Project was completed

3. Goals
• Identify all the genes in human DNA
• Determine the sequences of the nitrogenous base
pairs that make up human DNA
• Put information in databases for storage and
reference
• Discover more efficient technologies for data
analysis
• Allow the private sector access to information and
new technologies that arise from this project
• Address the ethical, legal and social issues

4. Techniques
• Shotgun Method
• Dideoxy/Sanger/Chain Termination
Method

5. The Shotgun Methods
• Hierarchical shotgun sequencing
method
• Whole genome shotgun sequencing
method

6. Hierarchical Shotgun
Method
• Used by the publicly funded section of the
HGP (the government)
• How it is done:
✓ Genomic DNA cut into random fragments
✓ Inserted into BAC (bacterial artificial
chromosome) vectors transform E. coli
bacteria to be replicated
✓ Inserts isolated and mapped (Golden Tiling
Path)
✓ Inserts fragmented and cloned in plasmids
✓ Sequences aligned so identical ones are
overlapped
http://www.bio.davidson.edu/courses/genomics/method/
shotgun.html

7. Whole Genome Shotgun
Sequencing Method
• Developed and used by the
private section of the HGP
(Celera)
• How it is done:
✓ Random cutting into genomic
DNA
✓ Fragments cloned in plasmids
✓ Obtained sequences are aligned
and reassembled http://www.bio.davidson.edu/courses/genomics/method/
shotgun.html

8. Sanger Method
• Invented by English
biochemist
Frederick Sanger
• Earned him his
second Nobel Prize
in Chemistry in
1980
http://en.wikipedia.org/wiki/File:Frederick_Sanger2.jpg

9. • Also called the
“dideoxy method” for
its use of
dideoxynucleotides
• Also called the “chain
termination method”
due to the use of
dideoxynucleotides
that ceases the DNA
chain elongation http://users.rcn.com/jkimball.ma.ultranet/
BiologyPages/D/DNAsequencing.html

10. Dideoxynucleotides
• Lack the -OH chain at the 3’ end of DNA
• Inhibits further elongation of DNA past the
dideoxynucleotide due to the lack of the O
atom
• Dyed to be seen once fluoresced using laser
beams
• Each nitrogenous bases fluoresces different
colours

11. How it is done
• DNA template supplied with :
❖ deoxynucleotides (dATP, dTTP, dGTP,
dCTP)
❖ dideoxynucleotides that have been dyed in
different colours (ddATP, ddTTP, ddGTP,
ddCTP)
❖ Taq DNA polymerase

23. Ethical, Legal, and
Social Issues
• Privacy and Confidentiality of Genetic Information
✓ Who should have access to the information?
✓ Who owns and controls the genetic information?
✓ Should the genetic information have patents or copyrights attached to
it?
• Fairness in the use of Genetic Information
✓ How will this personal information be used?
✓ Should an individual be denied health insurance because of an
increased risk of a disease found in their personal genome?
• Psychological Impact, Stigmatism and
Discrimination
✓ How does personal genetic information affect an individual and
society’s perceptions of the individual?
✓ How does the genomic information affect members of minority
communities?

24. Case Study
Kyle is a gifted athlete who recently became a
professional football player and signed a $50 million
contract. During a routine physical checkup, Kyle was
genetically tested, along with the rest of the team, for
risk of heart disease (a positive result would mean that
the individual has a higher risk for the disease but it
does not mean he or she will definitely become sick).
Kyle’s test declared that he has a 25% chance of
developing a specific heart disease. As a result, Kyle
was released from his contract because the team did not
want to take any chances, even though Kyle was not
sick and was not guaranteed to develop any heart
disease.

25. Benefits
• Molecular Medicine
✓ detect genetic predispositions to disease
✓ design pharmacogenomics (“custom drugs”)
based on an individual’s genetic profile
• DNA Identification
✓ identify potential suspects whose DNA may match evidence left at
crime scenes
✓ exonerate persons wrongly accused of crimes
✓ identify crime and catastrophe victims
✓ establish paternity and other family relationships
✓ match organ donors with recipients in transplant programs

26. Relevance to Modern Day
Science
• Gene Testing Therapy
• Pharmacogenomics
• Gene Therapy

27. Gene Testing Therapy
• A new form of testing for genetic
disorders
• Directly examines the DNA molecule
itself
• Uses:
✓ prenatal diagnostic testing
✓ newborn screening http://www.topnews.in/health/genetic-test-personalized-cancer-
therapy-27653
✓ forensic/identity testing

28. Pharmacogenomics
• A branch of pharmacology
• DNA may influence how a person
receives a drug and its side effects
• Customize treatments based on an
individual’s genotype
http://www.freewebs.com/pharmacogenomics/

29. Gene Therapy
• direct alteration, insertion, or deletion
of an individual’s DNA to treat diseases
• corrects malfunctioning genes that are
responsible for the development of
diseases
http://www.beltina.org/health-dictionary/gene-therapy-
human-what-is-definition.html

30. Conclusion
The Human Genome Project has
enabled us to explore a new world
of self-identification. It is extremely
helpful when identifying criminals
or genetic diseases. It can be the
basis of technological and social
development in the near future. And
thus unlocks the door to new
prospects.

31. Resources
http://www.councilforresponsiblegenetics.org/blog/post/Anniversary-of-the-Human-Genome-Project-Anything-to-Celebrate.aspx
Cook-Deegan R (1989). "The Alta Summit, December 1984". Genomics 5 (3): 661–3.doi:10.1016/0888-7543(89)90042-6
Barnhart, Benjamin J. (1989). "DOE Human Genome Program". Human Genome Quarterly
http://genomics.energy.gov/
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml
http://www.topnews.in/health/genetic-test-personalized-cancer-therapy-27653
http://pharmaxchange.info/press/2011/01/gene-therapy-2/
http://www.freewebs.com/pharmacogenomics/
http://www.beltina.org/health-dictionary/gene-therapy-human-what-is-definition.html
http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/D/DNAsequencing.html
http://www.bio.davidson.edu/courses/genomics/method/shotgun.html
http://home.comcast.net/~john.kimball1/BiologyPages/D/DNA_sequence.gif
http://www.nature.com/scitable/topicpage/dna-sequencing-technologies-690
http://www.dnalc.org/resources/animations/sangerseq.html
http://www.woodrow.org/teachers/bi/1992/human_genome.html
http://www.ornl.gov/sci/techresources/Human_Genome/publicat/primer/prim2.html
http://www.genomenewsnetwork.org/articles/06_00/sequence_primer.shtml