Pharmacogenomics discovery and clinical application require the technical ability to properly identify genotypes, the DNA sequence variation at certain genetic loci or regions. SNPs, or single base-pair alterations, are the most common type of variation in germline DNA. For instance, the G/A polymorphism, which affects more than 1% of the population, describes a shift in the DNA strand from guanine (G) to adenine (A). There are several different technologies that have been developed to perform genotyping and evaluate such data at the DNA level.
It is likewise impossible to overstate the significance of precise phenotyping. If phenotypes are not well characterised and quantified (preferably prospectively), or if significant factors like cumulative drug dose are not taken into account, Pharmacogenomics correlations could not be detected. Similar to how improperly grouping characteristics that are truly different could hide key pharmacogenomic effects.
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