The Present and Future Landscapes of Molecular Diagnostics

Annu Rev Anal Chem (Palo Alto Calif). 2024 Jul;17(1):459-474. doi: 10.1146/annurev-anchem-061622-015112. Epub 2024 Jul 2.

Abstract

Nucleic acid testing is the cornerstone of modern molecular diagnostics. This review describes the current status and future directions of molecular diagnostics, focusing on four major techniques: polymerase chain reaction (PCR), next-generation sequencing (NGS), isothermal amplification methods such as recombinase polymerase amplification (RPA) and loop-mediated isothermal amplification (LAMP), and clustered regularly interspaced short palindromic repeats (CRISPR)-based detection methods. We explore the advantages and limitations of each technique, describe how each overlaps with or complements other techniques, and examine current clinical offerings. This review provides a broad perspective into the landscape of molecular diagnostics and highlights potential future directions in this rapidly evolving field.

Keywords: CRISPR; LAMP; NGS; PCR; RPA; diagnostics; loop-mediated isothermal amplification; next-generation sequencing; polymerase chain reaction; recombinase polymerase amplification.

Publication types

  • Review

MeSH terms

  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Molecular Diagnostic Techniques*
  • Nucleic Acid Amplification Techniques*
  • Pathology, Molecular
  • Polymerase Chain Reaction

Supplementary concepts

  • LAMP assay