Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

ConclusionOur study supports the integration of exome sequencing and gene panel testing into the diagnostic pathway for epileptic encephalopathy, both in terms of cost effectiveness and clinical utility. We propose a diagnostic pathway that integrates initial rapid screening for treatable causes and comprehensive genomic screening. This study has important implications for health policy and public funding for epileptic encephalopathy and other neurological conditions.

This study uniquely compares the diagnostic yield, cost effectiveness, and clinical utility of the exome diagnostic model over the standard diagnostic model for patients with epileptic encephalopathy, who remain undiagnosed after first‐tier assessment. Our findings strongly support the exome diagnostic model, which resulted in a cost saving of AU$5,236 per additional diagnosis: approximately 10 times less expensive per diagnosis than the standard diagnostic model. We thus propose an optimal approach for the investigation of epileptic encephalopathy that benefits patients and their families by reducing the length and invasiveness of the “diagnostic odyssey” and provides a cost saving for the health budget.

Source: Molecular Genetics & Genomic Medicine - November 1, 2017 Category: Genetics & Stem Cells Authors: Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A. Lawson, Ian Andrews, Hugo Sampaio, Alexandra M. Johnson, Michelle A. Farrar, Michael Cardamone, David Mowat, George Elakis, William Lo, Ying Zhu, Kevin Tags: ORIGINAL ARTICLE Source Type: research