Forty Years of Molecular Diagnostics for Infectious Diseases

J Clin Microbiol. 2022 Oct 19;60(10):e0244621. doi: 10.1128/jcm.02446-21. Epub 2022 Jul 19.

Abstract

Nearly 40 years have elapsed since the invention of the PCR, with its extremely sensitive and specific ability to detect nucleic acids via in vitro enzyme-mediated amplification. In turn, more than 2 years have passed since the onset of the coronavirus disease 2019 (COVID-19) pandemic, during which time molecular diagnostics for infectious diseases have assumed a larger global role than ever before. In this context, we review broadly the progression of molecular techniques in clinical microbiology, to their current prominence. Notably, these methods now entail both the detection and quantification of microbial nucleic acids, along with their sequence-based characterization. Overall, we seek to provide a combined perspective on the techniques themselves, as well as how they have come to shape health care at the intersection of technologic innovation, pathophysiologic knowledge, clinical/laboratory logistics, and even financial/regulatory factors.

Keywords: DNA sequencing; PCR; diagnostic molecular microbiology; magnetic beads; nucleotide array; point of care; real-time quantitative PCR; sequencing; syndromic panel.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • COVID-19* / diagnosis
  • Communicable Diseases* / diagnosis
  • Humans
  • Molecular Diagnostic Techniques / methods
  • Nucleic Acid Amplification Techniques / methods
  • Nucleic Acids*
  • Pathology, Molecular

Substances

  • Nucleic Acids