Transparency of Reporting in Molecular Diagnostics

The major advances made over the past few years in molecular and cell biology are providing a progressively more detailed understanding of the molecular pathways that control normal processes and become dysregulated in disease [1]. This has resulted in the documentation of numerous genetic, epigenetic, transcriptomic, proteomic and metabolomic biomarkers that promise earlier disease detection, more accurate patient stratification and better prognosis [2–5]. Furthermore, molecular fingerprinting of diseases can be predictive of drug response and so assist with specific targeting of drugs against disease-associated molecules and function [6]. This, together with the continuous appearance of new technologies, is leading to the introduction of new tools and emergent applications for molecular diagnostics (MDx), usually defined as the detection of changes associated with certain states of health or disease using molecular methods [7]. MDx has the potential to transform modern health care by combining speed and accuracy with low cost to improve health outcomes for individual patients as well as reducing expenditure by health care providers. However, it is also important to consider the implications of the often-unexpected complexity and heterogeneity of diseases that have become apparent as a result of their molecular dissections [2,8]. MDx has become more than just analysis of genetic content for disease information, and makes use of a range of techniques including isothermal amplification methods [9], nucleic acid sequencing [10], high resolution melt analysis [11], DNA microarrays [12], tissue arrays [13], mass spectrometry [14], nanoparticles [15] and fluorescence in situ hybridisation [16]. Perhaps the most ubiquitous molecular technique is the real-time quantitative polymerase chain reaction (qPCR) [17], which can detect DNA, RNA (reverse transcription (RT)-qPCR) and proteins (proximity ligation/extension assay). Together, these methods address three distinct categories of clinical questions: OPEN ACCESS