Translational research in the post-genomic era: advances in the field of transcriptomics

Abstract

Translational research involves the interface between basic research and medical practice in order to generate innovative products or processes to introduce them into clinical protocols and health systems. The objective of this essay was to present an overview of transcriptomic advances, subsidized by the availability and use of new information technologies and molecular biology. In the search for accurate and less invasive diagnosis, transcriptomic tests use gene expression signatures to detect neurodegenerative diseases (Parkinson and Alzheimer), autoimmune (systemic lupus erythematosus, Wegener’s granulomatosis), heart failure, autism and cancer (breast, colorectal, hepatic and lung). In the English health system the clinical guidelines incorporate eight transcriptomic tests, all with a focus on cancer. In Brazil genomic tests based on DNA sequences are regulated to diagnose congenital anomalies both in the Unified Health System and in supplementary health, but the molecular tests have not
advanced in the scope of the diagnostic transcriptomics. The Brazilian health system should go beyond the tests of genomic analysis and begin the process of regulation of transcriptomic
diagnostic technologies. In the future, diagnostic tests evaluating multiple gene expression profiles may become routine exams in a form of molecular screening.