the human genome project and the 100k project

Question 1

what are the aims of the human genome project

Answer 1

1) determine the order of bases in the human genome
2) identify all the genes
3) sequencing genes and mapping position on each chromosome
4) consideration of ethical, social and legal issues which arise from obtaining information about the human genome

Question 2

what are the aims of the 100K project

Answer 2

1) use of new generation sequencing to sequence 100,000 genomes from patients with cancer or rare disease in order to

• create and ethical and transparent programme
• set up a genomic service for the NHS to benefit patients
• enable medical and scientific discovery

Question 3

how can the projects be applied to real life

Answer 3

1) used to scan DNA samples for mutations and compare that gene to the normal version, using the SNA sample to find a disease
2) carrier screening
3) pre-natal screening
4) screening for adult onset disorders such as Huntington’s disease
5) forensic testing

Question 4

what are some ethical issues associated with the project

Answer 4

1) risk of discrimination eg by insurance companies
2) lab errors and misidentification
3) who would have access to the genetic information
4) human cloning

Question 5

what is genetic counselling

Answer 5

patients meet with a genetic counsellor a few times a week allowing them to carefully think and talk through consequences of finding out results

Question 6

what is discussed during genetic counselling

Answer 6

1) number of people also living with the condition within the general population
2) whether each parent has a family history of the condition
3) likelihood of inheritance of the gene
4) symptoms and treatment
5) effect on life expectancy