Abstract

Next Generation Sequencing from Indian Perspective: Opportunities and Challenges

B R Das, Advisor & Mentor- Research & Development, SRL Limited

Last decade has witnessed exponential growth in development of massively parallel sequencing technologies; the 13 years required to read an initial human genome has been dramatically reduced to ~2 weeks with typical next-generation sequencing (NGS). This revolution of sequencing technologies envisages a new era of molecular genetics and biology. The advent of NGS has increased the throughput of DNA sequencing by >500,000-fold compared to traditional Sanger sequencing, while drastically plummeting the sequencing costs. While, NGS as a technology has been widely used and accepted worldwide, it is slowly invading Indian market as well. Its enormous potential is slowly getting recognized in India and we have seen several commercial and academic institutes increasingly using this technology routinely. India being a cost sensitive market, technology such as NGS can offer wide range of clinical assays across various disease segments such as cancer, genetic disorder, infectious diseases etc in a much economical manner. For Example, numerous germline mutations that predispose individuals to cancer can now be detected through screening panel of genes. Basically, two types of NGS multiple gene panels have become popular in India, i.e – Targeted multigene mutation panels for sporadic tumors and whole gene sequencing for hereditary cancers such as breast, ovary, colon, melanoma etc. In addition to this, there has been substantial increase in the number of NGS based multigene mutation panels in genetic disorders, such as Inherited genetic disorder panels which survey over 300 genes associated with over 700 diseases within few hours. Similarly, Hereditary cardiovascular disorders are devastating health problems that create a major burden on affected families and society. With current