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Single nucleotide polymorphism and its dynamics for pharmacogenomics

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Abstract

Pharmacogenomics is the study of how the genetic makeup determines the response to a therapeutic intervention. It has the capability to revolutionize the practice of medicine by personalized approach for treatment through the use of novel diagnostic tools. Pharmacogenomic based approaches reduce the trial-and-error approach and restrict the exposure of patients to those drugs which are not effective or are toxic for them. Single Nucleotide Polymorphisms (SNPs) hold the key in defining the risk of an individual’s susceptibility to various illnesses and response to drugs. There is an ongoing process of identifying the common, biologically relevant SNPs, in particular those that are associated with the risk of disease and adverse drug reaction. The identification and characterization of these SNPs are necessary before their use as genetic tools. Most of the ongoing SNP related studies are biased deliberately towards coding regions and the data generated from them are therefore unlikely to reflect genome wide distribution of SNPs. To avoid this biasing towards the coding regions SNP, SNP consortium protocol was designed. Though, projects like the HapMap increase credibility and use of SNPs, still there are some concern like the required sample (patient) sizes, the number of SNPs required for mapping, number of association studies, the cost of SNP genotyping, and the interpretation and explanation of results are some of the challenges that surround this field.

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  1. Center of Bioinformatics, University of Allahabad, Allahabad, 211002, India

    Pramod Katara

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Katara, P. Single nucleotide polymorphism and its dynamics for pharmacogenomics. Interdiscip Sci Comput Life Sci 6, 85–92 (2014). https://doi.org/10.1007/s12539-013-0007-x

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