Personalised medicine and the future

Question 1

Future developments

Answer 1

1. non-invasive prenatal diagnosis
   - testing maternal free fetal DNA
   - can determine fetal sex (X-linked) and FGFR3 mutations
2. Next generation sequencing of whole exons (records multiple sequences at once)
3. better understandning of VUS (cariants of uncertain significants) and non coding regions of genome
4. pharmacogenetics & personalised medicine

Question 2

Pharmacogenetics

Answer 2

study of genetically controlled variants in response to mediciation

Pharmacokinetics = the way the drug is absorbed. metabolised and excreted
-multiple polymorphs can cause differnece in breakdow of drugs e.g CYP2C9 affect drug metabolism

Pharmacodynamics = physiological effect of drug

Question 3

CF treatments

Answer 3

G551d (glycine replaced with aspartine at AA 551) - 3rd most common mutation

blocks opening of CFTR chloride ion channel

IVACAFTOR- re-opens channel

Question 4

EGFR treatments

Answer 4

lung cancer, specific mutation make tumour more or less sensitive to inhibitor

GEFitinib

Question 5

HER2 treatments

Answer 5

Herceptin (trastuzumab) is indicated for adjuvant treatment of HER-2 overexpressing node-ositive or node-negative (ER/PR negative with one high-risk feature

Question 6

Colorectal cancer

Answer 6

genetic testing for K-ras mutations make tumours more resistant to cetuximab

Question 7

ER positive

Answer 7

Grow in response to estrogen

Give tamoifen - women for up to ten years

Given aromatase inhibitor- give to post menopausal women