The use of next-generation sequencing in personalized medicine

Abstract

The revolutionary progress in development of next-generation sequencing (NGS) technologies has made it possible to deliver accurate genomic information in a timely manner. Over the past several years, NGS has transformed biomedical and clinical research and found its application in the field of personalized medicine. Here we discuss the rise of personalized medicine and the history of NGS. We discuss current applications and uses of NGS in medicine, including infectious diseases, oncology, genomic medicine, and dermatology. We provide a brief discussion of selected studies where NGS was used to respond to wide variety of questions in biomedical research and clinical medicine. Finally, we discuss the challenges of implementing NGS into routine clinical use.

Keywords: High-throughput sequencing; deep sequencing; massively parallel sequencing; next-generation sequencing; personalized medicine; second generation sequencing; ultra-high-throughput sequencing.

Figure 1.

Timeline of commercial NGS platforms. A brief history of the instruments introduced to the market between 2004 and 2015 and developmental milestones. NGS; next-generation sequencing.

Figure 2.

Schematic representation of five omics levels. The genome, epigenome, transcriptome, proteome, and metabolome are represented, with technologies, types of data, data outputs, and important applications summarized. These five levels together comprise the patient characteristics or phenome. Important connections between the different levels are also represented, including transcription, histone modification and transcription factor (TF)-binding and translation. Reproduced from [129]. Copyright, The Authors, 2018. Published by Oxford University Press. Distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/).

Figure 3.

Mutational profiling in personalized therapy. Presentation of a patient with melanoma at different tumor stages. Included are recommended screening and therapeutic managements, which vary depending on tumor progression. NGS has become an important part of advanced melanoma care. MSP, melanoma-specific mutation panel; NGS, next-generation sequencing; TR, tumor resection; PARE, personalized analysis with rearranged ends; TIL, tumor infiltrating lymphocyte. Reproduced with permission from Ref. [103]. Copyright 2012, Elsevier.