Pharmacogenetics is the study of genetic basis of variation in drug response. It aims to maximize drug efficacy and minimize toxicity. Genetic and exogenous factors contribute to differences in how individuals respond to drugs. Pharmacogenetics can help identify patient subgroups likely to respond to a drug, which aids drug development and allows for customized prescriptions to improve outcomes. It offers advantages like predicting responses, reducing adverse events, and improving rational drug design.

1. Presented by :- Vipin Jain
M.Sc.(Pharmaceutical
Chemistry) 3rdsem
Pharmacogenetics

2. Contents:-
• Introduction
• Why is pharmacogenetics a good approach ?
• Goals of Pharmacogenetics
• Exogenous and endogenous factors contribute to variation in drug
response
• Pharmacogenetic contribution to pharmacokinetic parameters.
• Polymorphism
• Types of Genetic Variants
• SNPs
• Pharmacogenetic trait
• How does genetic variation affect drug effect ?
• Pharmacogenetics and Drug Development
• Advantages of pharmacogenetics

3. PHARMACOGENETICS
Pharma Genetics
•Pharma the Greek word i.e. Pharmacon, related to drugs.
• Genetics related to genes / genome.
Pharmacogenetics is the study of the genetic basis for variation in drug response.

4. Why is pharmacogenetics a good approach ?
•Drugs can be dangerous.
•Drugs are expensive.
•Genetics provide a priori information.

5. Goals of Pharmacogenetics:-
- Maximize drug efficacy - Minimize drug toxicity
- Predicts patient - Aid in new drug development

6. Exogenous and endogenous factors contribute to variation in drug response:-

7. Half-life of antipyrine is more concordant in identical in comparison to fraternal twin
pairs.
Pharmacogenetic contribution to pharmacokinetic parameters:-

8. Polymorphism :- A polymorphism is a variation in the DNA sequence that is present at
an allele frequency of 1% or greater in a population.
Types of Genetic Variants:-
Two major types of sequence variation are:
1) Single nucleotide polymorphisms (SNPs)
2) Insertions/deletions (indels).

9. SNPs
single nucleotide polymorphism (SNP), is a variation in a single nucleotide that
occurs at a specific position in the genome, where each variation is present to
some appreciable degree within a population (e.g. >1%).

10. Pharmacogenetic trait:-
A pharmacogenetic trait is any measurable or discernible trait associated with a drug.

11. How does genetic variation affect drug effect?

13. Pharmacogenetics and Drug Development:-
•The major determinants of success of a new drug compound, viz safety and
efficacy, have become more predictable, with the advent of pharmacogenetics.
•Pharmacogenetics can identify new targets. For example, genome-wide
assessments using microarray technology could identify genes whose expression
differentiates inflammatory processes.
• Pharmacogenetics may identify subsets of patients who will have a very high or a
very low likelihood of responding to an agent.

14. Advantages of pharmacogenetics:-
• To predict a patient’s response to drugs.
• To develop “customized” prescriptions.
• To minimize or eliminate adverse events.
• To improve efficacy and patient compliance.
• To improve rational drug development.
• Pharmacogenetic test need only be conducted once during the life time.