Next-Generation Sequencing in Clinical Laboratory Medicine: A Comprehensive Review
This review provides a broad overview of NGS technologies and their expanding clinical applications across inherited diseases, oncology, and infectious diseases. It covers FDA-approved NGS panels, cancer biomarkers including MRD and liquid biopsy, pathogen identification, and host microbiome analysis. The authors discuss both short-read and long-read platforms and address the challenges of bioinformatics, data interpretation, and clinical validation that laboratories face when implementing NGS testing.
The original study
Application of Next Generation Sequencing in Laboratory Medicine.
- Authors
- Zhong Y, Xu F, Wu J, Schubert J, Li MM
- Journal
- Annals of laboratory medicine
- Type
- Journal Article, Review
- PMID
- 32829577
Original abstract
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.