Genetic polymorphism: evolution with technological advances and future direction

Abstract

Background: Genetic polymorphisms emerge as one of the major contributing factors behind the variability in disease development and pathogenesis as well as drug response in individuals. Fortunately, in the last few decades, a range of technological advancements eased the way for polymorphic studies to reveal the association between genetic polymorphisms like single nucleotide polymorphisms (SNPs) or Variable number tandem repeats (VNTRs) and human diseases. Starting from Mendelian inheritance to recent Next Generation Sequencing (NGS) technologies not only helped to understand human disease biology better, but also paved the way towards personalised therapy by studying individual drug/therapy responses based on genetic makeup (mutation/variant) of individuals. Method: Literature mining from PubMed, Google Scholar, and Medline databases using keywords like ‘polymorphism’, ‘genetic polymorphism’, ‘SNP’, ‘VNTR’, ‘CNV’. Result: The massively parallel sequencing capability of the NGS facilitates clinicians towards therapeutic decisions and aids follow-up of patients by identifying minimal residual disease. However, this is just the beginning of the era of targeted and personalised therapy and the scientific world, only able to touch the tip of the iceberg, much focus is needed to develop more user-friendly and cost-effective technologies to reach more patients along with the development of much simpler and robust statistical methodologies to handle or interpret big data.