Pharmacogenetics:
Focus on how individual’s metabolism leads to drastically different results to drugs, the effect of
drugs on an individual, the way that certain people react, and how we can predict this.
OVERVIEW:
L1 – Introduction to Pharmacogenetics
L2 – Optimizing Drug Therapies
L3 – Reducing Adverse Drug Reactions (ADRs)
L4 – Personalised Medicine and Disease Diagnoses
L5 – Technical, Social, and Ethical Challenges
INTRODUCTION TO PHARMACOGENETICS:
What is pharmacogenetics?
• The study of inherited/ de novo (spontaneously occurring) genetic variation in candidate
genes which can affect an individual’s response to drugs:
• Therapeutic effect
• Adverse drug reactions (ADRs) – unexpected side effects
• Often used interchangeably with the term pharmacogenomics which also
• The study of how an individual’s entire genetic make-up determines the body’s
response to drugs.
• Pharmacogenetics – disease/ disorder – gene – variation: response variable. Specific genes
influence.
• Pharmacogenomics – same as above but a whole-body approach. Genetic makeup as a
whole.
Pharmacogenetics can be further split up into 2 groups:
1. Pharmacokinetics:
• How the body affects a specific drug after administration through the mechanisms
of absorption and distribution.
• Chemical changes of the substance in the body.
• Effects and routes of excretion of the metabolites of the drug.
2. Pharmacodynamics:
Property of Samantha Boting. Not for resale purposes.
, • Relationship between drug concentration and its therapeutic effect.
• Likelihood of ADRs.
Objectives of pharmacogenetics?
• Identify variation in response.
• Elucidate molecular mechanisms.
• Evaluate clinical significance.
• Develop screening tests.
• Individualize drug therapy.
Benefits of pharmacogenetics?
1. Improve drug choices:
• USA: 100 000 die and ~2 million hospitalized for ADRs each year
• Predict who’s likely to have positive or negative reactions to drugs
2. Safer dosing options:
• Correct dosage administration = max efficacy
3. Improved drug development:
• Population-specific drug administrations?
4. Decreasing health-care costs:
• Decrease ADRs, deaths and hospitalizations
• Decrease drug cost – genetic profiling
• Speed up clinical trial process
Premise of Pharmacogenetics: Overview
Property of Samantha Boting. Not for resale purposes.
, Patient group all has same diagnosis and same prescription for a medication. We now need to
explore each individuals’ response to these drugs so we can predict is there are going to be any side
effects.
Drug Efficacy Example:
% Refractory or insufficient response = individuals in a population who are not responding in the
desired way to the drug administered. Either by having no affect or by having an ADR.
Principles of Drug Metabolism: (will be asked to define what belongs to which group)
• Genetic variation in drug metabolism influences: -
• Pharmacokinetics: (A D M E)
• Adsorption
• Distribution
• Metabolism
• Excretion
• Pharmacodynamics: (interactions)
• Receptor interactions
• Ion channel interactions
• Enzyme interactions
• Signalling pathway interactions
• Immune system interactions
Genetic Variation Terminology:
• Sequence difference in the same gene = allele.
Property of Samantha Boting. Not for resale purposes.
Focus on how individual’s metabolism leads to drastically different results to drugs, the effect of
drugs on an individual, the way that certain people react, and how we can predict this.
OVERVIEW:
L1 – Introduction to Pharmacogenetics
L2 – Optimizing Drug Therapies
L3 – Reducing Adverse Drug Reactions (ADRs)
L4 – Personalised Medicine and Disease Diagnoses
L5 – Technical, Social, and Ethical Challenges
INTRODUCTION TO PHARMACOGENETICS:
What is pharmacogenetics?
• The study of inherited/ de novo (spontaneously occurring) genetic variation in candidate
genes which can affect an individual’s response to drugs:
• Therapeutic effect
• Adverse drug reactions (ADRs) – unexpected side effects
• Often used interchangeably with the term pharmacogenomics which also
• The study of how an individual’s entire genetic make-up determines the body’s
response to drugs.
• Pharmacogenetics – disease/ disorder – gene – variation: response variable. Specific genes
influence.
• Pharmacogenomics – same as above but a whole-body approach. Genetic makeup as a
whole.
Pharmacogenetics can be further split up into 2 groups:
1. Pharmacokinetics:
• How the body affects a specific drug after administration through the mechanisms
of absorption and distribution.
• Chemical changes of the substance in the body.
• Effects and routes of excretion of the metabolites of the drug.
2. Pharmacodynamics:
Property of Samantha Boting. Not for resale purposes.
, • Relationship between drug concentration and its therapeutic effect.
• Likelihood of ADRs.
Objectives of pharmacogenetics?
• Identify variation in response.
• Elucidate molecular mechanisms.
• Evaluate clinical significance.
• Develop screening tests.
• Individualize drug therapy.
Benefits of pharmacogenetics?
1. Improve drug choices:
• USA: 100 000 die and ~2 million hospitalized for ADRs each year
• Predict who’s likely to have positive or negative reactions to drugs
2. Safer dosing options:
• Correct dosage administration = max efficacy
3. Improved drug development:
• Population-specific drug administrations?
4. Decreasing health-care costs:
• Decrease ADRs, deaths and hospitalizations
• Decrease drug cost – genetic profiling
• Speed up clinical trial process
Premise of Pharmacogenetics: Overview
Property of Samantha Boting. Not for resale purposes.
, Patient group all has same diagnosis and same prescription for a medication. We now need to
explore each individuals’ response to these drugs so we can predict is there are going to be any side
effects.
Drug Efficacy Example:
% Refractory or insufficient response = individuals in a population who are not responding in the
desired way to the drug administered. Either by having no affect or by having an ADR.
Principles of Drug Metabolism: (will be asked to define what belongs to which group)
• Genetic variation in drug metabolism influences: -
• Pharmacokinetics: (A D M E)
• Adsorption
• Distribution
• Metabolism
• Excretion
• Pharmacodynamics: (interactions)
• Receptor interactions
• Ion channel interactions
• Enzyme interactions
• Signalling pathway interactions
• Immune system interactions
Genetic Variation Terminology:
• Sequence difference in the same gene = allele.
Property of Samantha Boting. Not for resale purposes.
