intro to PM

Question 1

what is the aim of molecular profiling

Answer 1

to define people such that we can identify diagnostic and prognostic indicators and allow us to predict how prognosis will change and an appropriate treatment strategy

Question 2

what is pharmacogenetics

Answer 2

single variant being associated or having an effect on a drug

Genetic influence on drug efficacy and adverse reactions
Typically relating to a single variant

Question 3

what is pharmacogenomics

Answer 3

how the entire genome and multiple variants come together to affect the activity of a drug in the body.

Interaction between drugs and the genome
Typically more Complex relating to multiple genes and their variants

Question 4

define personalised medicine

Answer 4

coupling established clinical-pathological indices with state-of-the-art molecular profiling to create diagnostic, prognostic and therapeutic strategies precisely tailored to each patient’s requirements

Question 5

currently used clinical pathological markers include:

Answer 5

X-ray : Opacity, Leuncency, Size & Location
Biochemistry – Generic tests : FBCs, U&Es, Acute phase proteins
Presentation – Symptoms : cough, dizziness, pain, weakness
History : Family history, previous illness, Age, Gender

Question 6

clinical measures by which we can group responders and non-responders include

Answer 6

• presence of a gene variant
• gene expression
• protein marker
• biochemical marker

Question 7

what is pharmacokinetics

Answer 7

movement of drugs through the body Absorption, Distribution, Metabolism, Excretion

Question 8

pharmacodynamics

Answer 8

drug – target interactions, the effect on the body

Question 9

how much on average does it cost to approve a drug

Answer 9

£1.15bn, from research to license

Question 10

how long does it take on average ]to approve a drug

Answer 10

12 years

Question 11

how much does NHS spend on medicines and diagnostics per year

Answer 11

rising to £20 billion on medicines

£10 billion of diagnostics

Question 12

How is Technology is driving change in our approach to treatment?

Answer 12

• Ability to differentiate disease and define subtypes
• Stratify patients and treat as individuals
• Provides molecular markers defining the efficacy and safety of a drug

Question 13

what is gene expression analysis

Answer 13

• different subsets expressed in different cell types
• A particular cell type in a changed condition will alter its expressed genes
• knowing which gene subset is expressed/expected tells us whats going on in the cell