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EMS > Lecture 42 - Pharmacogenetics > Flashcards

Lecture 42 - Pharmacogenetics Flashcards

1
Q

What are genomics?

A

relating to the genome i.e. total DNA/RNA

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2
Q

what is pharmacokinetics?

A

What the body does to the drug

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3
Q

What is Pharmacodynamics?

A

What the drug does to the body

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4
Q

What is stratified medicine?

A

Selecting therapies for groups of patients with shared biological characteristics

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5
Q

What is personalised medicine?

A

Therapies tailored to the individual

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6
Q

what is Germline?

A

Hereditary

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7
Q

What is meant by somatic?

A

Acquired, in non-germline cells, not hereditary

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8
Q

Give 5 general types of genetic variations that affect drug action:

A

1) gene amplification

2) single nucleotide polymorphisms

3) deletions and insertions

4) translocations

5) promoter polymorphisms

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9
Q

What is the most common, life-limiting, recessively inherited disease in the UK.

A

Cystic Fibrosis

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10
Q

What is the prevalence of cystic fibrosis in the uk?

A

Prevalence of 1/2500 newborns in the UK

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11
Q

What is the calculated carrier frequency of Cystic fibrosis?

A

1/25

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12
Q

What causes 75% of UK cases of Cystic fibrosis?

A

F508del in CFTR gene causes 75% of UK cases

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13
Q

What is Ivacaftor?

A

A CFTR potentiator

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14
Q

What age is Ivacaftor available from?

A

Available to patients from 6 years of age

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15
Q

What test must you have to use Ivacaftor?

A

Must have had a sweat chloride test

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16
Q

What are single nucleotide polymorphisms?

A

A common type of genetic variation

May change protein structure/activity e.g. missense changes

17
Q

How do genetic variations affect drug action?

A

they change proteins used in absorption, activation, targets, catabolism and excretion of drugs

18
Q

What are the two broad effects of genetic variations on drug affect?

A

1) drug inactivation leading to a poor/ no response

2) over-active drug resulting in excess toxicities and adverse reactions

19
Q

How does autosomal recessive affect taking drugs ?

A

most severe side effects seen in those homozygous for the variant, heterozygote less/unaffected

20
Q

How does autosomal dominant affect taking drugs ?

A

single copy of the variant is enough to cause the problem

21
Q

What is X - linked recessive?

A

males carriers of the variant at risk

22
Q

What is mitochondrial inheritance?

A

From mothers only

23
Q

What is the drug metabolic pathway?

A

Absorption

Activation

Altered target

Catabolism (breakdown)

Excretion

24
Q

What are the consequences to getting the drug diagnosis wrong?

A

Inactive drug – poor / no response

Over-active drug – excess toxicities (adverse reaction)

Financial costs to Health Services

EMS (54 decks)

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