Since James Watson and Francis Crick in 1953 made their Nobel Prize-winning discovery of nature’s building block, DNA, the race has been on to fully characterize human health and disease at the molecular level. Yet the terms “molecular” and “diagnostics” did not appear together in the scientific literature until the mid-1980s, according to Rossa W.K. Chiu, Frank R. Cockerill, Y. M. Dennis Lo, and Carl T. Wittwer, editors of Clinical Chemistry’s January 2015 special issue on molecular diagnostics.
In the 6 years since Clinical Chemistry took such a focused view of molecular diagnostics, the field has gone from “the cutting edge of translational medicine” to “a revolution in progress,” suggest Chiu, Lo, and Wittwer in a preamble accompanying the issue.
The editors, who themselves have been pioneers in molecular diagnostics science and practice, have compiled a sweeping view of the field as it stands in 2014. Of 17 investigator-initiated original articles, four look at massively parallel sequencing and three deal with digital polymerase chain reaction technology. In addition, two each address circulating tumor cells, cell-free nucleic acid, new RNA species, and methylation.
This special molecular diagnostics issue also features three mini-reviews on circulating microRNA biomarker studies, sequence artifacts in DNA from formalin-fixed tissues, and quantitative nucleic acid amplification methods for viral infections, respectively. Five review articles consider everything from DNA and RNA preparation and MALDI-TOF mass spectrometry for identifying infectious diseases to the use of bioinformatics in clinical next-generation sequencing.
The issue does not neglect the practical, either, with articles addressing reimbursement for molecular pathology, consent for molecular diagnostics, and comparative effectiveness research demonstrating the clinical utility for molecular diagnostics. Podcasts on two of these, as well as 13 other articles from this special issue, also are planned.
This broad view of a rapidly evolving field points to a very bright, if uncertain, future. As Chiu, Lo, and Wittwer put it, “What will happen next? That is the excitement and uncertainty of a revolution.”