Single nucleotide polymorphism and its dynamics for pharmacogenomics

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.

State of Art of Cancer Pharmacogenomics in Latin American Populations

“…The SNPs in drug-metabolizing enzymes, transporters, and receptors have relevant effects in the efficiency and toxicity of some drugs [36,37]. Consequently, science and technology make progress everyday in order to create drugs that can be used in personalized treatments for patients suffering from different types of cancer.…”

Textbook of Personalized Medicine

“…The identifi cation 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 refl ect genome wide distribution of SNPs (Katara 2014 ). Single SNP association testing is suboptimal given the complexities of the clinical trial setting, including: (1) relatively small sample sizes; (2) diverse clinical cohorts within and across trials due to genetic ancestry (potentially impacting the ability to replicate fi ndings); and (3) the potential polygenic nature of a drug response (Kohler et al 2014 ).…”

Characteristic and influencing factors of Taqman genotyping calling error

“…As the most common type of genetic variation, SNPs help to understand the structure and function of genome . In addition, SNPs is of great significance in precise diagnosis and treatment for clinical patients . Thus, SNP genotyping is valuable for research and application in the fields of genetics, etiology, and pharmacy.…”