Pharmacogenomics

Question 1

What is meant by pharmacogenomics

Answer 1

the study of how genetic differences between patients account differences in their response to a drug

Question 2

Genetic differences affect drug response, this is because genes make proteins and proteins influence what?

Answer 2

• PK of body on drug and how it processes the drug
• PD of drug on body and how the drug affects the body
• comorbidities
• concomitant medications
• compliance

Question 3

What is an allele

Answer 3

a variant of a gene - you get an allele from each parent

Question 4

What are most variations in genes down to

Answer 4

SNP’s - single nucleotide polymorphisms which lead to different alleles

Question 5

What is meant by someone who is homozygous

Answer 5

they have 2 of the same alleles e.g. TT

Question 6

What is meant by someone who is heterozygous

Answer 6

they have 2 different alleles e.g. Tt

Question 7

Name 3 life threatening conditions SNPs can cause

Answer 7

1. sickle cell anaemia
2. cystic fibrosis
3. familial hypercholesterolaemia

Question 8

Give an example of pharmacogenomic screening

Answer 8

used to identify HLA-B 5701 allele as those with it are at risk of hypersensitivity syndrome to Abacavir