This seminar basically introduces and explains the learner about what is personalised medicines, what is the need for it, how personalised medicines work. For this, the concept of pharmacogenetics and pharmacogenomics are considered. After going through the presentation, the learner will be able to understand about the concept of pharmacogentics and pharmacogenomics. Certain examples of personalised medicines are included in this seminar.Although personalised medicines are specific and helpful, ins spite of having lots of advantages , it also have some disadvantages which are also specified in this seminar.Although , we speak about personalised medicines, we never saw personalised medicines in our local market. So here is an approach given that , when will we see personalised medicines at the local pharmacy. Again, certain marketed products are also listed in the seminar.Also, the future of personalised medicines is depeicted in the seminar. How medicines will be in a an around 2050 is shown in the seminar. After going through the seminar, the learner would be able to understand about personalised medicines and all its aspects in detail.
Personalised medicines -pharmacogentics and pharmacogenomics
1. PERSONALISED
MEDICINES
Presented by Alakesh Bharali
Roll no.190520011001
Regd no. 387005219
M. Pharm 1st semester
Girijananda Chowdhury Institute of Pharmaceutical
Sciences(GIPS), Ghy-17
2. Contents
Background
Introduction
Definition : What is it exactly?
Need for personalised medicines(PM)
How personalised medicines work?
Pharmacogenetics and Pharmacogenomics
Genetic tests
Specific examples of Personalised medicines
Benefits/Advantages of PM
Limitations
When will we see PM at local Pharmacy?
Marketed products
Future prospective
Summary
Conclusion
References
2
8. Introduction
Personalised medicine is the tailoring of medical
treatment to the individual characteristics of each
patient( Sub-population)
Development in chemistry, histochemistry and
microscopy allowed scientists to begin to
understand the underlying causes of diseases
Sequencing of human genomes at the turn of the
21st century set in motion the transformation of
personalised medicine from an idea to a practice
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10. Definition : What is it exactly?
The use of combined knowledge (genetics or
otherwise) about a person to predict disease,
predict treatment response and to predict disease
susceptibility and thereby improve that person’s
health.
More broadly, “personalized medicine” may be
thought of as the tailoring of medical treatment to
the individual characteristics, needs and
preferences of a patient during all stages of care,
including prevention, diagnosis, treatment and
follow-up.
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11. Need for personalised medicines
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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.
12. How Personalised medicines work?
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Allows prediction to be
made about a person’s
susceptibility of a
disease
Genetic
Info
Genomic
Info
Developing
disease
medication and
treatment
Course of
disease and
response to
treatment
13. Pharmacogenetics and
Pharmacogenomics
Traditional pharmacogenetic approach relies
on studying sequence variations in candidate
genes that are thought to effect drug response
Pharmacogenomics studies encompass the sum
of all the genes ( i.e the genome). It is the
broader study of how genetic variations affect
drug development.
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15. Genetic Tests
1.CYP 450 genotyping test:
CYP 450:Responsible for metabolising 30 types of
medication
Test determine how quickly these drugs are eliminated
Under expression of this CYP 450: Will not break the
medication fast enough allowing drug to accumulate
Over expression :Will break the medication too fast
before they have a chance to work
Applications:
Anticoagulants, antidepressant, PP inhibitors etc.
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16. Contdd..
2. Thiopurine Methyl Transferase Test(TMT)
TMT: Enzyme that breaks thiopurine (used for
leukemias and autoimmune disorders)
Some people genetic variation prevents from
producing this enzyme
Result: Thiopurine level increase leading to
toxicity
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17. Contd..
3.UGT1A1 TA repeat genotype test:
UGT1A1: Enzyme that breaks irinotecan(used
for colorectal cancer)
Some people genetic variation prevents from
producing this enzyme
Result: Irinotecan level increase leading to
toxicity
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19. Specific Examples of Personalised
Medicines
Types of test Disease Test Function Implications for
treatment
Disease
susceptibility test
Breast cancer BRCA1 Individuals with
adeleterious BRCA1 or
BRCA2 mutation are at
increased risk of breast
and ovarian cancer.
Surveillance, risk
modification,
chemoprevention,
prophylactic
surgery
Prognostic test Breast cancer Mammap
rint
Test predicts the risks of
cancer recurrence within
5–10 after the initial
event.
Adjuvant
chemotherapy (yes
or no)
Companion
diagnostic —
effectiveness-
oriented
Breast cancer HER2 Trastuzumab (Herceptin)
is beneficial only for
tumors with an HER2
over expression.
Trastuzumab (yes
or no)
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20. Types of test Disease Test Function Implications for
treatment
Companion
diagnostic —
safety-oriented
Epilepsy and
other indications
for
carbamazepine
HLAB*
1502
Patients with
HLAB* 1502 are
more likely to have
dangerous skin
reactions following
carbamazepine
therapy than other
patients.
Carbamazepine (yes
or no)
Companion
diagnostic
Atrial fibrillation
and other
indications for
warfarin and other
coumarin
derivatives
CYP2C9,
VKORC1
Optimal maintenance
dose for coumarin
therapy is partly
dependent on
CYP2C9 and
VKORC1 genotypes.
Warfarin dosage
Treatment
response
monitoring
test
Hepatitis C HCV RNA
test
The test measures
viral RNA levels
after starting
treatment with
pegylated interferon
alfa and ribavirin.
Length of treatment
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21. Benefits of Personalised Medicines
Better matching patients to drugs instead of
“trial and error”
Customised pharmaceuticals may eliminate
life threatening adverse reactions.
Reduce costs of clinical trials by-
Quickly identifying total failures
Favourable responses for particular backgrounds
Improved efficacy of drugs
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22. Limitations
Invasion of medical privacy
Discrimination due to involvement of genetic
tests
People might not opt for personalised
medicines
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23. When will we see PM at local
market?
Prescription benefit management(PBM)
companies offer genetic testing as part of
prescription-filling process.
Drugs used commercially:Tamoxifen (Nolvadex,
AstraZeneca) for cancer and warfarin (Coumadin,
Bristol-Myers Squibb) to manage blood
coagulation.
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25. Marketed Products
Dako’s Hercep genotyping test for trastuzumab.
Myriad’s BRCA1/BRCA2 test to determine breast
and ovarian cancer risk.
Roche’s AmpliChip CYP 450 Test, which predicts
a patient’s response to various therapies.
Monogram’s Trofile Co-Receptor Tropism Assay
for HIV infection.
Bayer’s Trugene genotyping HIV tests.
3D printing
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26. Future prospective
One day, Patients will say, “I'm not an average
patient. I am who I am. You need to understand
who I am before you prescribe whatever
treatment you plan to prescribe.” or “Don’t
comment me without knowing me”
When that day comes, we’ll no longer have to
talk about personalized medicine
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28. In today's world, only 50-70% of drugs work
effectively.
However, in future the success rate of drugs will
increase to 100%, curing all patients.
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30. Summary
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The ability to offer:
The Right Drug
To the Right Patient
For the Right Disease
At the Right Time
With the Right Dosage
Genetic and metabolic data will
allow drugs to be tailored to
Patients subgroups
31. Conclusion
IS PERSONALISED MEDICINES REALLY PERSONALISED???
Yes or NO??
Yes: Because of the word “personalised”( as per wikipedia)
No: Because refers to the subpopulation and not to the individual
patients ( as per definition of the presidents council)
National Cancer Institute does not clarify whether or not
personalised medicine focuses on individual or a sub-population.
What’s the conclusion???
Looking the current examples of PM, we can conclude that PM is
not truly personalised.
It aims at sub-population.
So, there’s not a sharp definitions of PM. Above definitions are just
supported by majority.
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32. References
Mancinelli L, Cronin M, Sadee W. Pharmacogenomics: The promise
of personalized medicine. AAPS Pharm Sci 200;2(1):E4.
F. Randy Vogenberg., Carol Isaacson Barash., Michael Pursel.,
Personalized Medicine Part 1: Evolution and Development into
Theranostics., Vol. 35 No. 10., (2010).
Moinak Banerjee., Is pharmacogenomics a reality? Challenges and
oppurtunities for India., Indian J Hum Genet. 2011 May; 17(Suppl
1): S1–S3. doi: 10.4103/0971-6866.80350
Leavitt MO, Kucherlapati R. The great promise of personalized
medicine (opinion). Boston Globe, December 26, 2008.
Hamburg, M.A., and F.S. Collins. 2010. The path to personalized
medicine. The New England Journal of Medicine 363(4): 301–304.
Lunshof, J.E. 2006. Personalized medicine: New perspectives– new
ethics? Personalized Medicine 3(2): 187–194.
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33. Internet Links
NHMRC. 2011. Personalised medicine and genetics.
National Health and Medical Research Council,
http://www.nhmrc.gov.au/you/health/egenetics/personal
isedmedicine.(Accessed December 25, 2019)
Personalized Medicine E-Symposium (archived).
Available at: www.pharmacogenomicsociety.org.in
https://en.m.wikipedia.org/wiki/personalised_medicine
[Accessed December 23, 2019]
https://www.annualreviews.ord/doi/full/10.1146/annuar
ev-genom (Accessed December 23, 2019)
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