Ethical Issues in Medical Genetics

Question 1

How can would you test the number of trinucleotide repeats someone has?

Answer 1

qPCR

Question 2

What 4 things may be discussed in a genetic counselling appointment, prior to a genetic test?

Answer 2

1. Risk Assessment - how likely is it they have the disease, based off family history and confirmed diagnoses
2. Alternatives to testing - other ways of approximating risk
3. Limitations of the test: PPVs and NPVs
4. Logistics and fees

Question 3

Name 4 benefits of genetic testing

Answer 3

1. Relief/reassurance
2. Can make informed decisions about life and children
3. Can watch closely for first signs/symptoms, 4. Avoid behaviours that increase risk

Question 4

Name 6 risks of genetic testing

Answer 4

1. Psychological stress
2. Treated differently by friends/family
3. May end up diagnosing a parent by default
4. Confidentiality - genetic information sold on to third parties
5. False results
6. Misinterpretation of results