Stranneheim et al. demonstrated how Massively parallel DNA sequencing (MPS) can aid in the diagnosis and early intervention of patients with Inborn Errors of Metabolism (IEM). Their method focuses on analysing pulsed whole genome sequence data in real time, using automated analysis combined with data reduction and parallelization. The genes targeted are 474 disease genes corresponding to IEM with a known genetic basis. (This database of genes/conditions is reportedly continuously updated.)
As proof-of-concept, two known patients were retrospectively analysed: their mutations were identified and presented to the clinical team after 15 and 18 hours from start of sequencing, respectively.
With the progressive decrease of MPS cost, IEM may be particularly amenable to such methodologies since irreversible damage often correlates with delays in diagnosis and intervention.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. Stranneheim et al. BMC Genomics. 2014 Dec 11;15:1090. PMID: 25495354
Posted by Yannis Trakadis, MD