Application of Next Generation Sequencing in Laboratory Medicine

The rapid development of next-generation sequencing (NGS) technology, including advances in sequencing chemistry, sequencing technologies, bioinformatics, and data interpretation, has facilitated its wide clinical application in precision medicine. This review describes current sequencing technologies, including short- and long-read sequencing technologies, and highlights the clinical application of NGS in inherited diseases, oncology, and infectious diseases. We review NGS approaches and clinical diagnosis for constitutional disorders; summarize the application of U.S. Food and Drug Administration-approved NGS panels, cancer biomarkers, minimal residual disease, and liquid biopsy in clinical oncology; and consider epidemiological surveillance, identification of pathogens, and the importance of host microbiome in infectious diseases. Finally, we discuss the challenges and future perspectives of clinical NGS tests.

Automated summary

This review discusses the rapid advancement of next-generation sequencing technology and its wide clinical applications in precision medicine, particularly in inherited diseases, oncology, and infectious diseases. It highlights the importance of NGS in clinical oncology, FDA-approved NGS panels, and the role of host microbiome in infectious diseases. The review also addresses the challenges and future prospects of clinical NGS tests.