Other -omics Approaches and Their Integration for the Diagnosis and Treatment of Inborn Errors of Metabolism

Here we provide an overview of the different -omics approaches and their application and integration for the purpose of improving diagnosis and treatment of patients with inborn errors of metabolism. Given the molecular diversity of biomarkers, the high-throughput -omics technologies offer an amazing opportunity for holistic investigation and contextual pathophysiologic understanding of disease, as well as their identification and management. Phenomics, genomics, metabolomics, lipidomics, glycomics, proteomics, and transcriptomics are each important to systems medicine, but some are clear more mature than others, reflected in the varying applications as a clinically reimbursed test versus a research tool only. Generation of big data is relatively easy; the challenge lies in the integration and interpretation of these systems biology data and functional characterization and translation of the results into something clinically meaningful for our patients. Partnerships with patients and families and multidisciplinary collaboration between clinicians and researchers are essential for success in the -omics era.