The multifaceted field of metabolomics has witnessed exponential growth in both methods development and applications. Owing to the urgent need, a significant fraction of research investigations in the field is focused on understanding, diagnosing and preventing human diseases; hence, the field of biomedicine has been the major beneficiary of metabolomics research. A large body of literature now documents the discovery of numerous potential biomarkers and provides greater insights into pathogeneses of numerous human diseases. A sizable number of findings have been tested for translational applications focusing on disease diagnostics ranging from early detection, to therapy prediction and prognosis, monitoring treatment and recurrence detection, as well as the important area of therapeutic target discovery. Current advances in analytical technologies promise quantitation of biomarkers from even small amounts of bio-specimens using non-invasive or minimally invasive approaches, and facilitate high-throughput analysis required for real time applications in clinical settings. Nevertheless, a number of challenges exist that have thus far delayed the translation of a majority of promising biomarker discoveries to the clinic. This article presents advances in the field of metabolomics with emphasis on biomarker discovery and translational efforts, highlighting the current status, challenges and future directions.
Keywords: Biomarkers; NMR spectroscopy; cancer; cardiovascular disease; commercialization; diabetes; diagnostics; inborn errors of metabolism; mass spectrometry; metabolomics; neurological disorder; statistical analysis; translation; validation.