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GENOMICS
PHARMACOGENOMICS
RAQUEL ROBLEDA CASTILLO
MASTER IN ADVANCED GENETICS
2019-2020
INDEX
1. Definition
2. History and concept
3. Aim
4. Example
5. Pharmacogenomic testing
6. Future approach
7. Conclusions
8. Bibliography
DEFINITION
Studies how the genome can affect drug response in patients by correlating gene expression and/or single nucleotide
polymorphisms (SNPs) with drug efficiency or toxicity.
Pharmacokinetics Pharmacodynamics
Determinants
02
03
HISTORY AND CONCEPT
Pythagoras and fava
beans—510 BC
Wilhelm Johannsen—
1909
Friedrich Vogel—1959
CYP2D6 gene—1987
Genotype
Phenotype Pharmacogenomics
HISTORY AND CONCEPT
04
Human Genome Project - 2001
SNPs
Single Nucleotide Polymorphisms
HapMap Project - 2009
SNP PROFILINGSelection of drug treatment according to an individual
genetic characteristics
05
HISTORY AND CONCEPT
“ONE SIZE FITS ALL”
PERSONALIZED MEDICINE
VS.
AIM
Increase the likelihood of positive outcomes and optimize drug therapy by selecting the right drug and the right dose
TOXICOLOGY AND ADVERSE EFFECTS
EFFICACY
06
EXAMPLE
07
Family of liver enzymes that break down more than 30 types of drugs
Determines how a patient metabolizes certain drugs
Cytochrome p450 family
Metabolizer status
EXAMPLE
CODEINEOpioid drug that is used to moderate pain
CODEINE
MORPHINE
OPIOID ACTIVITY
CYP2D6 enzyme
08
Neonates and children
METABOLIZATION
TOXICITY
NO OPIOID EFFECTS
PHARMACOGENOMIC TESTING
09
CAN WE RELY ON PGx TESTS?
Not assessed tests and lack of clinical evidence
TESTS INCLUDE PHARMACOKINETICS AND
PHARMACODYNAMICS
10
FUTURE APPROACH
Future implementation of pharmacogenomics depends on Cost of sequencing
Validation of PGx tests
Guidelines
Evidence that pharmacogenomics will be an expanding component of precision medicine
CONCLUSIONS
11
One size does not fit all
Pharmacogenomics is essential to improve the effectiveness of medications.
There is an evident growth in Pharmacogenomics testing
Despite the challenges that it presents, pharmacogenomics will be very present in diagnosis and prescribing in the future.
BIBLIOGRAPHY
12
1.Pirmohamed, M. (2001). Pharmacogenetics and pharmacogenomics. British Journal of Clinical Pharmacology, 52(4): 345-347. DOI: 10.1046/j.0306-5251.2001.01498.x2.Aneesh, T.P., Sekhar, M.S., Jose, A., Chandran, L. and Zachariah, M.S. (2009). Pharmacogenomics: The Right Drug to the Right Person. Journal of Clinical Medicine Research, 1(4): 191-194. DOI: 10.4021/jocmr2009.08.1255 3.Roden, M.D., Wilke, A.R., Kroemer, K.H. and Stein, M.C. (2011). Pharmacogenomics: The genetics of variable drug responses. Circulation; AHA/ASA Journals, 123(15): 1661-1670. DOI: 10.1161/CIRCULATIONAHA.109.9148204.Relling, V.M. and Evans, E.W. (2015). Pharmacogenomics in the clinic. Nature, 526(7573): 343-350. DOI: 10.1038/nature15817 5.Lee J.W. et al. (2014). The emerging era of pharmacogenomics: current successes, future potential, and challenges. Clinical Genetics, 86: 21-28. DOI: 10.1111/cge.123926.Adams, U.J. (2008). Pharmacogenomics and Personalized Medicine. Nature Education, 1(1): 194.
7.Relling, M.V. and Klein, T.E. (2011). CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network. Clinical Pharmacology and Therapeutics, 89(3): 464-7. DOI: 10.1038/clpt.2010.2798. https://ghr.nlm.nih.gov/primer/genomicresearch/encode9. https://www.admerahealth.com/pgx-2/
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