Screening for clinically important genes

1. Screening for clinically important genes

2. http://www.channel4.com/learning/microsites/G/genetics/activities/chrom11.html an activity where you get to be a genetic counsellor

3. Genetically Inherited diseases • Just a quick recap – • Diseases can be either dominant or recessive – how does this affect the genotype that the individual must have to display the disease?

4. Genetic Screening • If individuals have a family history of an inherited disease they may choose to be screened for the disease. • This will enable them to find out if the have a mutated gene, and the probabilities of the offspring inheriting the gene.

5. Screening for Sickle cell anaemia • Using figure 1 on page 272 – draw your own cartoon script to explain to someone with the possibility of sickle cells anaemia how the test works

6. What to do with the results • Genetic counselling – once the tests results are back people have to be given the information so that they can make informed decisions on the basis of the result. • This is the same for other mutated genes – e.g. the inheritance of mutated oncogenes – tumour suppressor genes – if people carry mutated genes and have an increased likelihood of developing cancer they may decided to make lifestyle changes, it may inform other medical treatment that they have, it may encourage them to talk to the offspring about being tested etc….

7. Activity • Read the article about sickle cell anaemia and highlight the important points. • Complete the application question which starts on page 273.

8. Implications of genetic screening • Now that we have the technology, we have to take responsibility for how it is used, some key issues: • Who is tested? • Who has access to the results? • Who takes responsibility for someone who carries a gene of an inherited disease – is it better to abort or have a life of suffering? • Should we select against mutated genes or do we need to maintain diversity? • Who decided what is a defect and what is a disease – is ADHD and aspergers a defect or disease?

9. Some difficult questions • Question: If you know from testing that you are at risk from a serious disease, do you have an equal right to life insurance as someone who does not carry this genetic condition? • Question: You run a small company that relies on all its staff working full time to survive. You have to make a key appointment to the managerial staff. The best candidate suffers from a genetic condition that will require her to have regular hospital treatment, needing time off. The second best candidate does not have this condition, and your colleagues think he would be a safe bet. Does this affect who you appoint? • Question: A mum has had 6 boys and then gave birth to a much loved little girl however she was killed in a road traffic accident, they want to use embryo screening and IVF so that they can have another little girl, you are on the board who decided what do you think should happen?