Pharmacogenomics and Personalised Medicine

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Questions and Answers

What happens to the glomerular filtration rate (GFR) in the newborn?

It is lower than the adult value (correct)

It is not measurable

It is higher than the adult value

It is the same as the adult value

What is the effect of aging on the body composition?

Fat contributes a smaller proportion to body mass

Fat contributes a greater proportion to body mass (correct)

Muscle mass increases with age

Body mass remains constant with age

Why do elderly people consume more drugs than younger adults?

Due to decreased pharmacodynamic sensitivity

Due to the potential for drug interactions (correct)

Due to changes in distribution volume of drugs

Due to increased pharmacodynamic sensitivity

What happens to the activity of hepatic microsomal enzymes with age?

It declines slowly and very variably Signup and view all the answers

What is the effect of pregnancy on maternal plasma albumin concentration?

It decreases Signup and view all the answers

What is the effect of age on the distribution volume of lipid-soluble drugs?

It increases Signup and view all the answers

Why do drugs commonly produce greater and more prolonged effects at the extremes of life?

Due to less efficient drug elimination Signup and view all the answers

What is the effect of pregnancy on cardiac output?

It increases Signup and view all the answers

What happens to the glomerular filtration rate (GFR) with age?

It declines slowly from around 20 years of age Signup and view all the answers

What is the effect of common disorders such as impaired renal or hepatic function?

They predispose to toxicity by causing unexpectedly intense or prolonged drug effects Signup and view all the answers

What type of drug interaction modifies the pharmacological effect without altering concentration?

Pharmacodynamic interaction Signup and view all the answers

Which disorder is linked to hemolysis when exposed to primaquine?

Glucose-6-phosphatase deficiency Signup and view all the answers

Which genetic variation is an autosomal recessive disorder related to sensitivity to neuromuscular blockers?

Plasma cholinesterase deficiency Signup and view all the answers

Acute intermittent porphyria is an autosomal dominant disease that is aggravated by which substances?

Drugs and sex hormones Signup and view all the answers

Increased susceptibility to ototoxicity from aminoglycosides is caused by what type of mutation?

Mitochondrial DNA mutation Signup and view all the answers

What does drug acetylator deficiency represent?

A balanced polymorphism Signup and view all the answers

What type of genetic factors can modify the transport and metabolism of certain drugs?

Pharmacogenetic polymorphisms Signup and view all the answers

Which inherited disorder is characterized by sensitivity to drugs that induce CYP enzymes?

Acute intermittent porphyria Signup and view all the answers

Which type of interaction alters the concentration of drug B at its site of action?

Pharmacokinetic interaction Signup and view all the answers

What describes a potential risk for elderly patients who are treated with multiple drugs?

Increased drug interactions Signup and view all the answers

What is the term for the study of genetic factors that influence drug responses?

Pharmacogenomics Signup and view all the answers

Which of the following is NOT a factor that contributes to drug response variability?

Gender Signup and view all the answers

What is the main goal of personalized medicine?

To tailor treatment based on an individual's genetic profile Signup and view all the answers

What is the primary difference between pharmacogenetics and pharmacogenomics?

There is no significant difference between the two terms; they are synonyms. Signup and view all the answers

Which of the following is NOT a type of variability in drug response?

Pharmacoeconomic variation Signup and view all the answers

How can pharmacogenomics be used to improve patient outcomes?

All of the above Signup and view all the answers

What is the main challenge associated with traditional evidence-based medicine?

It does not account for individual differences in drug responses Signup and view all the answers

Which of the following is a potential cause of pharmacokinetic variation?

Both B and C Signup and view all the answers

Why is it important to consider ethnic differences in drug responses?

All of the above Signup and view all the answers

Why might drug metabolism be altered in neonates?

Neonates have lower activity levels of some important enzymes Signup and view all the answers

Study Notes

Pharmacogenetics and Personalized Medicine

Pharmacogenetics studies how genetic factors influence individual drug responses, serving as a synonym for pharmacogenomics.
Personalized medicine tailors therapeutic choices based on an individual's genetic profile, predicting benefits and risks of specific medications.
Traditional evidence-based medicine averages responses across large populations, potentially overlooking individual variability.
Key issues from disregarding variability include lack of drug efficacy and unexpected adverse effects.

Types of Variation in Drug Response

Pharmacokinetic Variation involves differences in absorption, distribution, metabolism, or excretion of drugs leading to varied concentrations at sites of action.
Pharmacodynamic Variation refers to differing responses to the same drug concentrations driven by factors like:
- Age
- Genetic predisposition
- Immunological differences
- Disease impacts (e.g., kidney or liver function)
- Drug interactions

Epidemiological Factors Influencing Drug Response

Ethnicity: Genetic and environmental factors, including dietary habits, may cause ethnic variations in drug response.
Age:
- Neonates and the elderly show reduced enzymatic activity affecting drug metabolism.
- GFR is significantly lower in newborns (about 20% of adult value) and declines with age.
- Body composition alters drug distribution volume over time, impacting drug efficacy and safety.
Pregnancy:
- Reduced maternal plasma albumin affects drug binding.
- Increased renal blood flow and GFR lead to heightened renal elimination rates for various drugs.
Disease: Impaired renal or liver function can intensify drug effects due to higher concentrations resulting from a standard dose.
Drug Interactions: Multiple medications can influence each other, causing pharmacodynamic or pharmacokinetic interactions.

Genetic Variation in Drug Responsiveness

Inherited disorders can significantly impact drug responses:
- Glucose-6-phosphatase deficiency: Affects hemolysis in susceptible individuals exposed to certain chemicals.
- Plasma cholinesterase deficiency: An autosomal recessive disorder leading to sensitivity to neuromuscular blockers.
- Acute intermittent porphyria: Precipitated by drugs or hormones; more severe in women.
- Drug acetylator deficiency: A balanced polymorphism affecting acetylation rates.
- Mitochondrial mutations: Increase susceptibility to ototoxicity from aminoglycosides.
Genetic polymorphisms in phase I and II enzyme genes, along with drug transporters, influence drug metabolism and transport rates, affecting therapeutic outcomes.

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Description

Understand how genetic factors affect drug responses and how personalized medicine uses genetic profiles to make therapeutic choices.