This document discusses personalized medicine and pharmacogenetics. It defines personalized medicine as providing the right drug to the right patient for the right disease at the right time with the right dosage based on an understanding of the patient's genome. Pharmacogenetics is the study of how genetic variations impact individual responses to drugs by influencing drug metabolism and transport. Examples are provided of genetic polymorphisms that can affect drug acetylation, alcohol metabolism, and response to drugs like clopidogrel, antimalarials, and warfarin. While pharmacogenetics enables more precise treatment, limitations include complex interactions between multiple genes, environment, and other drugs.

1. PERSONALIZED MEDICINE
Presented by-
ROHIT
R.K.S.D.College of Pharmacy,
Kaithal (Hry)
M.Pharma(Pharmaceutics)

2. CONTENTS
• Introduction
• Definition
• Pharmacogenetics

3. INTRODUCTION
• The concept of personalized medicine dates
back many hundreds of years.
• Developments in chemistry, histochemistry and
microscopy allowed scientists to begin to
understand the underlying causes of disease.
• Sequencing of the human genome at the turn of
the 21st century set in motion the
transformation of personalized medicine from
an idea to practice.

4. DEFINITION
The ability to offer :-
• The Right Drug
• To The Right Patient
• For The Right Disease
• At The Right Time
• With The Right Dosage

5. Understanding of human
genome
Simpler method to
identify genetic
information
Genetic information
specific to individual
Preselect
effective drug

7. NEED FOR PERSONALIZED MEDICINE
• Similar symptoms but different illness
• Medical interventions may work in some people
but not in others
• 40% of drugs that are taken are not effective
• Advances in genomics helps to treat a patient
precisely and effectively
• To avoid any allergic and adverse effects

8. PHARMACOGENETICS
PHARMACOGENETICS = Pharma and genetics
• Pharma the Greek word i.e. PHARMACON,
related toDrugs.
• Genetics related to genes / genome
• The study of the genetic basis for variation in
drug response.

9. PHARMACOGENETICS VARIATIONS
May be due to :
• Single mutant gene -Genetic Polymorphism
• Polygenic influences

10. GENETIC POLYMORPHISMS
• When a nucleotide change is very rare, and not
present in many individuals, it is often called a
mutation.
• In contrast to mutation, genetic polymorphism are
usually consider normal variants in population. When
a specific allele occur in at least 1% of the
population, it is said to be genetic polymorphism.
• Allele -Each of two or more alternative form of a
gene that arise by mutation and are found at the
same place on chromosome.

12. GENETIC POLYMORPHISMS
Types of Polymorphisms
Single Nucleotide Polymorphisms (SNPs) -
single base change in DNA
AAGCCTA
AAGCTTA
- SNPs arise as a consequence of mistake
during normal DNA replication

13.  Insertion/Deletion :
AAGCCTTAAG
AAGCC( )AAG
POLYGENIC INFLUENCES
Polygenic influences and environmental
factor are responsible for normal biological
variations.

14. EXAMPLE OF VARIATIONS
• VARIATIONS - Acetylation, fast
• EFFECTS - Needs for higher or more frequent
doses of drugs that are more aceylated (e.g,
isoniazid) to produce the desired therapeutic
response.

15. • VARIATIONS - Acetylation, Slow(drug
inactivation by hepatic N- acetyltransferase)
• EFFECT - Increased susceptibility to adverse
effect of drug that are aceylated (e.g. with
isoniazid, peripheral neuropathy)

16. VARIATIONS- Aldehyde dehydrogenase-2
deficiency
EFFECT - With alcohol ingestion, marked
elevations of blood acetylated, causing facial
flushing, Increased heart rate, diaphoresis,
muscle weakness, and sometimes
catecholamines mediated vasodilation with
euphoria.

17. VARIATIONS - CYP2C9 genetic polymorphisms
EFFECTS - Reduced enzymatic activation of
clopidogeral, resulting in reduced antiplatelet
effect and increased risk of thrombosis in high
risk patient.

18. VARIATIONS - G6PD deficiency
EFFECT -With use of oxidant drugs, such as
certain antimalarials ( e.g. chloroquine,
primaquine ) increased risk of haemolytic
anemia.
VARIATIONS - Genetic polymorphisms of
CYP2C9 and vitamin k epoxide reductase
EFFECT - Increased action of warfarin, increased
risk of bleeding.

19. LIMITATIONS OF PHARMACOGENETICS
• Complex targeting due to multiple gene
involvement
• Difficult and time consuming to identify small
variations in gene
• Interaction with other drug and environment
to be determined

20. THANK YOU