Next-Generation Sequencing or the Dilemma of Large-Scale Data Analysis: Opportunities, Insights, and Challenges to Translational, Preventive and Personalized Medicine

Abstract

Over the past years, the advent of Next-Generation Sequencing (NGS) technology, also known as high-throughput sequencing (HTS), has represented an immense hope for all of us. Indeed, NGS has (r)evolutionized the fields of molecular biology, genetics and genomics, enabling cost-effective and quick generation of DNA and RNA sequence data with exquisite accuracy and resolution for possible translational, preventive and personalized medicine. Nevertheless, in spite of tremendous advancements to broaden NGS applications from research to clinic, NGS still presents enormous challenges in terms of data storage, processing, quality control management and interpretation, which slow the translation from the bench-top to the bed-side. In this expert-opinion article, I first summarize the main doubts about NGS technology according to my experiences in the field, which actually could open-up new opportunities for innovative research and development. I further highlight the general technological and methodological characteristics of NGS as well as the recent advances and challenges in terms of clinical investigations and applications toward the development of theranostics. Eventually, I briefly question the relevance of integrating NGS with other platforms such as next-generation proteomics (NGP) to optimize the prognosis, diagnosis and therapeutic options.