Personalised Medicine is a young but rapidly advancing field.
The term 'Personalised Medicine' is described as providing "the right patient with the right drug at the right dose at the right time".
2. Content
Introduction
How does it work?
What is pharmacogenomics?
Case Study
Example of Personalised Medicine
Advantages
Disadvantages
3. Introduction
Personalised Medicine is a young but rapidly advancing field.
The term 'Personalised Medicine' is described as providing
"the right patient with the right drug at the right dose in the
right time".
Personalised medicine can be thought as the tailoring of
medical treatment to the individual characteristics, need and
preferences of a patient.
Unlike ordinary medicine tailored for all patients,
personalized medicine makes treatment for an individual a lot
more specific based upon their needs.
Personalised medicine is also known as Precision medicine,
Pharmacogenomics or Theranostics.
4. Personalised Medicine is accomplished by using the
molecular makeup of each patient from which medical
specialists get a better understanding of their “genetic
mapping.”
Allows
Predictions to be made about a person's susceptibility of
Developing diseases
Its response to
treatment
Course of disease
Genetic information Genomic information Clinical information
5. How does it work?
• It depends on the identification of biomarkers
• Study of variation of DNA and RNA related to drug response
• Based on patient's unique genetic profile
Personalized medicine is known as the future medicine and is considered
more effective than one dose fits all approach. This is considerable more
effective because personalized medicine is specific for an individual while
the one dose fits all approach is for a certain illness/disease.
In order to have the right medication for the right patient. A sample of the
patients DNA is collected and that sample is later used to identify the
medication which best suits that patient. The DNA is collected using an
Amplichip. After the process of collecting DNA, the DNA is then analyzed
and later used to minimize the side effects and to create a strategy for a more
successful outcome from the medical treatment.
Personalized Medicine is used for genetic testing for abnormalities and
providing treatment.
6. What is pharmacogenomics?
1
• Pharmacogenomics
2
• The study of How genes affect a
person's response to drugs
Pharmacology (Science
of drugs)
Genomics (Study of genes
and their functions)
Pharmacogenomics
7. • Pharmacogenomics examines impact of genetic variation
drug responses via biomarkers.
• Personalised medicine utilises biomarkers, which are simple
genes and proteins that can be measured to diagnose diseases.
• Pharmacogenomics shows how genes determine individual
variability to drug response in patients by correlating gene
expression with pharmacokinetics and pharmacodynamics of
the drug.
• Pharmacogenomics also eliminates trial and error method of
prescribing allowing to take consideration patient's gene and
functionality of their genes.
Contd…
8. Case Study
• Dennis slamon worked to understand the link between HER2
and specific types of cancer.
• He observed that changes in the HER2 gene caused breast
cancer cells to produce the normal HER2 proteins in higher
amounts.
• HER2 protein overexpression used both as marker of
aggressive disease as well as a target for treatment.
• It was the first molecularly targeted cancer therapy designed
to shut off the HER 2 gene, making
• the cancerous cells grow more slowly and without damaging
normal tissue.
9. Example of Personalised Medicine
Abacavir, a nucleotide reverse transcriptase inhibitor used for
HIV is known to cause hypersensitivity reaction in some patients
within 6 weeks of the onset of therapy.
In 2002, two independent studies demonstrated a possible genetic
link between the hypersensitivity reaction and the major
histocompatibility complex class I allele.
Studies showed that patients that carry HLA-B* 57:01 gene have
a 60% chance of developing a hypersensitivity reaction when
treated with Abacavir while patients who don't carry the gene do
not develop the drug reaction at all.
Thus, a patient genome, can predict response to a specific drug
therapy.
The study was so persuasive that FDA and EMA altered Abacavir
lead to advise testing for HLA-B* 57:01 allele prior to initializing
Abacavir therapy.
10.
11. Advantages:
Optimising proper drug therapy, dosage for patients.
Increasing drug efficiency & safety.
To minimise adverse effects.
Improves patient compliance.
To allow improvement in drug discovery and development.
Disadvantages:
Reimbursement pathway of testing not established.
Ethical issues with τ - genetic testing and data sharing
The response to a medication may be a result of the
interaction of multiple genes.
12. Conclusion
Human genome research is the foundation for the future of
personalised medicine and has the ability to eventually
customise medical treatment to individual patients through the
incorporation of genetics, molecular profiles and clinical
characteristics in treatment determination.
With the use of risk algorithms molecular diagnostics and
targeted therapies, the field of personalised medicine is striving
to translate research into clinical practice.
13. 1. Novelli, G. Personalized genomic medicine. Int Emerg Med. 2010;5(Suppl
1):S81-90. doi: 10.1007/s11739-010-0455-9
2. Genetic Science Learning Center (2011, January 5) Challenges and Issues in
Personalized Medicine and Pharmacogenetics. Learn.Genetics. Retrieved
January 7, 2011, from
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Jan <
4. Standford University of, Medicine. "Privacy issues in personalized medicine.
[Pharmacogenomics. 2003] - PubMed result." National Center for
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Jan
5. Torrey T. About [homepage on the Internet] Aug. 13. [cited 2010 Dec. 24].
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