For the Deep Phenotyping Special Issue
Back to the future: From genome to metabolome†
Article first published online: 13 APR 2012
© 2012 Wiley Periodicals, Inc.
Special Issue: Deep Phenotyping for Precision Medicine
Volume 33, Issue 5, pages 809–812, May 2012
How to Cite
Thakuria, J. V., Zaranek, A. W., Church, G. M. and Berry, G. T. (2012), Back to the future: From genome to metabolome. Hum. Mutat., 33: 809–812. doi: 10.1002/humu.22073
- Issue published online: 13 APR 2012
- Article first published online: 13 APR 2012
- Accepted manuscript online: 16 MAR 2012 03:36PM EST
- Manuscript Accepted: 28 FEB 2012
- Manuscript Received: 20 FEB 2012
- nutritional therapy;
- pharmacological therapy
In the traditional medical genetics setting, metabolic disorders, identified either clinically or through biochemical screening, undergo subsequent single gene testing to molecularly confirm diagnosis, provide further insight on natural disease history, and inform on disease management, treatment, familial testing, and reproductive options. For decades now, this process has been responsible for saving many lives worldwide. Only recently, though, has it become possible to move in the opposite direction by starting with an individual's whole genome or exome, and, guided by this data, study more minor perturbations in the absolute values and substrate ratios of clinically important biochemical analytes. Genomic individuality can also be used to guide more detailed phenotyping aimed at uncovering milder manifestations of known metabolic diseases. Metabolomic phenotyping in the Personal Genome Project for our first 200+ participants—all of whom are scheduled to have full genome sequence at more than 40× coverage available by May 2012—is aimed at uncovering potential subclinical and preclinical disease states in carriers of known pathogenic mutations and in lesser known rare variants that are protein predicted to be pathogenic. Our initial focus targets 88 genes involved in 68 metabolic disturbances with established evidence-based nutritional and/or pharmacological therapy as part of standard medical care. Hum Mutat 33:809–812, 2012. © 2012 Wiley Periodicals, Inc.