Human Genome And 100k Genome Project

Question 1

What was the human genome project.

Answer 1

Involved sequencing the nucleotides of the human genome. Designed to improve knowledge of genetic disorders.

Question 2

What were the aims of the human genome project?

Answer 2

• identify all the genes in the human genome and identify which chromosomes were in each
• determine the sequence of the 3 bullion base pairs and put it in a data base
• improve tools for data analysis
• transfer related technologies to the private sector to develop medical innovation
• address ethical legal and social issues

Question 3

What were the main findings of the human genome project?

Answer 3

• humans have about 20,500 genes
• there are more repeated segments than expected
• fewer than 7% of the families of proteins were specific to vertebrates

Question 4

Describe Sanger sequencing.

Answer 4

1. DNA broken into single stranded fragments of different lengths
2. Complementary strands synthesised. The 4 nucleotide triophosphates were altered so that DNA polymerase wouldn’t make the next nucleotide so the chain was terminated.
3. From each original fragment many DNA strands of increasing length were produced and seperated by gel electrophoresis. As all of the terminal nucleotides were known in fragments of increasing size, the original DNA fragment was known.

Question 5

How did the human genome project lead to the 100k genome project?

Answer 5

NGS (newer rapid techniques) were made that could sequence an entire genome in hours.

Question 6

What was the 100k genome project?

Answer 6

Used NGS to sequence 100,000 genomes from NHS patients with cancer or a rare disease and their family members.

Question 7

What were the aims of the 100k genome project?

Answer 7

1. Create an ethical, transparent programme based on consent
2. Set up a genomic service to benefit NHS patients
3. Enable medical as scientific discovery
4. Develop a UK genomics industry.

Question 8

What are the 3 main ethical concerns with the 100k genome project?

Answer 8

1. Ownership: once base sequences are known it must be clear who owns the information as it could be misused.
2. If it shows a particular ancestry it could be pretext for discrimination
3. No company should use it for profit.

Question 9

How could genetic info be misused?

Answer 9

If a person is identified to have a predisposition to heart disease their insurance premiums may increase.

Question 10

What are other ethical issues?

Answer 10

• patients genetic sequence may show a predisposition to a disorder; the individual might not want to know but it should be clear whether family should have access
• genetic counselling could have more significance
• IVF embryos screened leading to conditions like CF, Huntington’s and thalassaemia (choice made for embryo)
• embryo screening looked at for physical characteristics
• children could be screened for predisposition for adult disorders - whether to tell child
• storage and security is a concern because potential for hack