Pharmacogenomics and personalised medicine

Question 1

What does ADME stand for?

Answer 1

absorption, distribution, metabolism, and excretion

Question 2

Which genomes must you take into consideration when treating cancer?

Answer 2

The genome of the normal cells, as well as that which has mutated to cause the neoplasm.

Question 3

What is the result of TPMT mutation?

Answer 3

Inability to metabolise and inactivate drugs used to treat leukaemia. Leads to unacceptable toxicity and profound bone marrow suppression.

Question 4

What drug would you avoid giving to someone with a SNP in the SLC01B1 gene?

Answer 4

Statins. This solute transporter is responsible for transporting statins into the liver. If it doesn’t work, statin uptake is reduced, causes serious myopathy.

Question 5

What is the result of a mutation in the 5-lipoxygenase gene?

Answer 5

Poor response to anti-leukotrient therapies.

5-lipoxygenase is involved in synthesis of leukotrienes form arachidonic acid.

Question 6

What is the aim or pharmacogenetics/omics?

Answer 6

To enable more effective and safer use (and development) of medicines in a patient specific way.

Question 7

Polymorphisms in thiopurine methyltransferase (TPMT), which render it inactive, can produce treatment-limiting toxicity when using which drug?

Answer 7

6-mercaptopurine