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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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