A Review of Next-Generation Sequencing Technologies and Their Impact on Clinical Research: Assessing Clinical Efficacy and Cost-Effectiveness

Abstract

In contrast to microarray methods, sequence-based technologies directly determine the nucleic acid sequence. A number of modern sequencing technologies are referred to collectively as "next-generation sequencing" (NGS), often known as "high-throughput sequencing." Compared to conventional Sanger sequencing, NGS gives orders of magnitude more data at a much lower ongoing cost. These new technologies allow for much faster and more affordable sequencing of DNA and RNA, revolutionizing the study of genomics and molecular biology. Technical improvements in NGS sequencing methods have rapidly increased sequencing volume to several billion nucleotides within a short period and at a reasonable cost. Currently, NGS is developing into a molecular microscope that is permeating almost all areas of biological research. The last ten years have seen the development of NGS platforms and methodologies, and the quality of the sequences has increased to the point where NGS is now utilized in human clinical diagnosis. Due to significant cost reductions and greater community acceptance of NGS, the utilization of NGS techniques in studying clinical trials has significantly increased. NGS is a useful tool for detecting mutations in people with cancer and genetic abnormalities. To ascertain whether NGS can cost-effectively improve patient outcomes, more thorough cost-effectiveness studies of NGS applied to patient care management are required.