Role of molecular diagnostics in the management of infectious disease emergencies

Med Clin North Am. 2012 Nov;96(6):1067-78. doi: 10.1016/j.mcna.2012.08.005. Epub 2012 Sep 27.


In the setting of infectious disease emergencies, rapid and accurate identification of the causative agent is critical to optimizing antimicrobial therapy in a timely manner. It is clearly evident that the age of molecular diagnostics is now upon us, with real-time PCR becoming the standard of diagnosis for many infectious disease emergencies in either monoplex or multiplex format. Other molecular techniques such as whole or partial genome sequencing, microarrays, broad-range PCR, restriction fragment length polymorphisms, and molecular typing are also being used. However, for most small clinical laboratories, implementation of these advanced molecular techniques is not feasible owing to the high cost of instrumentation and reagents. If these tests are not available in-house, samples can be sent to national reference laboratories (eg, Mayo Medical Laboratories and Quest Diagnostics) for real-time PCR assays that can be completed in 1 day. It is anticipated that over time commercial real-time PCR tests and instrumentation will become more standardized and affordable, allowing individual laboratories to conduct tests locally, thus further reducing turnaround time. Although real-time PCR has been proved to expand our diagnostic capability, it must be stressed that such molecular methodology constitutes only an additional tool in the diagnosis of infectious diseases in emergency situations. Phenotypic methodologies (staining, cultures, biochemical tests, and serology) still play a critical role in identifying, confirming, and providing antibiotic susceptibility testing for many microbial pathogens. As multiplex assays become increasingly available, there will be even greater temptation for taking a “shotgun” approach to diagnostic testing. These new technologies will not substitute for a proper history and physical examination leading to a thoughtful differential diagnosis. None the less, these new molecular tests increase the capability of the diagnostician to rapidly identify the microbiological etiology of an infection. An added advantage of rapid diagnostic tests often not emphasized is the capability to rule out certain diagnoses for which unnecessary antimicrobial therapy may otherwise be instituted and/or continued.

Publication types

  • Review

MeSH terms

  • Clinical Laboratory Information Systems / organization & administration*
  • Communicable Diseases / diagnosis*
  • Communicable Diseases / therapy
  • DNA, Bacterial / genetics
  • Emergency Medicine / standards*
  • Humans
  • Molecular Diagnostic Techniques / methods*
  • Polymorphism, Restriction Fragment Length
  • Quality Assurance, Health Care / standards
  • Real-Time Polymerase Chain Reaction / methods*
  • Sequence Analysis, DNA
  • United States / epidemiology


  • DNA, Bacterial