GN 301 Module 3: DNA Sequencing, the Human Genome Project and GINA

Deoxyribose

has OH on the second Carbon

dideoxyribose

has a hydrogen on the second Carbon

James Watson

second person to have his genome sequenced to encourage early detection of diseases

Francis Collins

director of the HGP, discovered genes responsible for certain genetic disorders like cystic fibrosis.

NIH

national institute of health, led the HGP, to research how medical health and genes were related.

Orthologs

inherited through speciation.

GINA

stands for Genetic Info Nondiscrimination Act.

Medical blood tests

can detect current conditions, but genetic testing can predict future ones

Orthologs

genes in different organisms which are direct evolutionary counterparts of each other.

Goals of the HGP

to identify all the genes in the human body (estimated to be around 20,000-25,000), to determine the sequence of genes, make the information available to the public, and address the ethics of the project

Craig Venter

founded Celera Genomics, sequenced the human genome using new tools he had discovered

map-based sequencing

divide genomes into small segments, orient those sequences with respect to each other, and then line up the pieces for sequencing

Whole genome shotgun approach

blast the genomes into small pieces and line them up and determine the order of them with computer programs

Approximately how many genes are in the human genome?

20,000-25,000

Approximately how many base pairs of DNA are in the human genome?

3 billion

Dept. of Energy

interested in genetic mutations caused by power plants, so they pushed for the HGP

Whose DNA was used in the original HGP?

Two males and two females who were randomly sampled from different continents

1000 genomes project (1KGP)

an international research consortium that was set up in 2007 with the aim of sequencing the genomes of at least 1,000 volunteers from multiple populations worldwide in order to improve our understanding of the genetic contribution to human health and disease.

100,000 genomes project

was a British initiative to sequence and study the role our genes play in health and disease. Recruitment was completed in December 2018, although research and analysis is still ongoing.

Uses for DNA Sequence Data

The sequence tells scientists the kind of genetic information that is carried in a particular DNA segment. For example, scientists can use sequence information to determine which stretches of DNA contain genes and which stretches carry regulatory instructions, turning genes on or off.

Ethical Legal and Social Implications (ELSI)

5% of original HGP funding by Congress set aside for ELSI

Describe/Discuss ELSI and concerns about DNA testing and public availability of DNA sequence data

Patent Laws: who owns the genetic information discovered?
How reliable are the tests?
Any regulations on genetic testing?
How well-educated is the medical community behind the project on genomes?
How are people in the public going to be educated so that they can make an informed choice on genetic testing?
Is this project worth doing just to learn something, even if we don’t learn how to treat a disease?
Will insurance coverage change based on genetic disorders?
Can employers refuse to hire you if you have a pre-existing condition?
Should DNA info receive special protection? (medical blood tests can detect current conditions, but genetic testing can predict future ones)

Discuss provisions of GINA National law

Health insurance can’t discriminate people with genetic disorders Employers can’t discriminate against employees with genetic diseases Health insurance can’t require genetic testing No insurance protection required for life, long-term care, or disability insurance due to genetic conditions