Application of Next Generation Sequencing in Laboratory Medicine

Ann Lab Med. 2021 Jan;41(1):25-43. doi: 10.3343/alm.2021.41.1.25. Epub 2020 Aug 25.


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.

Keywords: Constitutional disorders; Infectious diseases; Next-generation sequencing; Oncology.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Communicable Diseases / diagnosis
  • Communicable Diseases / genetics
  • Computational Biology / methods*
  • DNA Copy Number Variations / genetics
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Neoplasms / diagnosis
  • Neoplasms / genetics
  • Polymorphism, Single Nucleotide
  • Precision Medicine*
  • Sequence Analysis, DNA


  • Biomarkers, Tumor