Component 2.7 - Genetic Projects

Question 1

What are the aims of the human genome project in terms of genes ?

Answer 1

• Identify all genes in the human genome and which chromosome each is on
• Determine the sequence of the 3 billion base pairs in the human DNA

Question 2

What are the other aims of the human genome project?

Answer 2

• Improve tools for data analysis

- Address the ethical, legal and social issues that may arise from the project

Question 3

What are the achievements of the human genome project?

Answer 3

• humans have 20,500 genes

Question 4

What type of sequencing was used in the Human genome project?

Answer 4

Sanger sequencing which sequenced relatively short pieces of DNA, usually less than 1000bps
This took a long time

Question 5

What are the aims of the 100k genome project

Answer 5

• Set up a genomic service for the NHS to benefit patients
• Enable medical and scientific discovery
• Develop a UK genomic industry

Question 6

What type of sequencing was used for the 100k genome project?

Answer 6

Next generation sequencers (NGS) which can sequence an entire genome in just a few hours. NGS is enabling scientists to study variation within the human genome amongst 100000 people in the UK.

Question 7

What does identifying the allele sequence enabled?

Answer 7

It means scientists can scan scan a patients DNA sample for mutated sequences and also compare the sequence of DNA bases in a patients gene to a normal version of the gene.

Question 8

What are the concerns of these projects in terms of information?

Answer 8

• Genetic information is the property of the individual e.g should not be used in health insurance or to discriminate people
• Some people do not with to have knowledge of future health problems. Do relatives get info?
• Storage and security of genomic data is a concern as computer systems can be hacked

Question 9

What are the other concerns in terms of embryos and screening?

Answer 9

• Embryos made during in vitro fertilisation can be screened for alleles leading to conditions.
• Embryo screening has the potential for choosing alleles to ensure specific characteristics. Should this be allowed?
• Parents can screen children to see if they have sequences which pre-dispose them to adult diseases. Should they be allowed this info?

Question 10

What efforts are being made to kill the vector of malaria?

Answer 10

• Mosquitoes are becoming resistant to insecticides preventing the eradication of the disease
• Sequencing of the Anopheles genome is used to try and develop chemicals that could render the mosquito susceptible to insecticides.

Question 11

What effort is being made to kill the plasmodium ?

Answer 11

• Plasmodium has developed multi-drug resistance

- Sequencing of its genome is allowing for the development of more effective drugs

Question 12

Possible impacts of the 100K genome and human genome project on healthcare of the future?

Answer 12

• More accurate diagnosis
• Better prediction of the effect of drugs
• Improved design of drugs
• New and improved treatments for disease
• NGS allowing tailored therapies to individuals

Question 13

What is genomics?

Answer 13

The study of structure, function, evolution and mapping of genomes