PharmacoEconomics & Outcomes News 804, p14 - 2 Jun 2018 Early genetic testing optimal strategy in severe infant epilepsy Early use of targeted whole exome sequencing (WES) yields more diagnoses at lower cost than other diagnostic testing in severe epilepsies of infancy (SEI), according to a study from Australia. The population-based study investigated the incidence and aetiologies of SEI in infants born in Victoria, Australia, during 2011–2013. Furthermore, the diagnostic yield, cost and cost effectiveness of a WES- based gene panel (targeted WES) in infants with unknown aetiology at epilepsy onset were modelled. Targeted WES was incorporated at various points along the diagnostic pathway. The analysis of data for 114 infants revealed an SEI incidence of 1 in 2000 live births. The aetiology was identified in 76 infants (67%), with brain malformations comprising the most common aetiology (27%). Modelling showed that incorporating targeted WES increased diagnostic yield in infants with unknown aetiology at epilepsy onset, compared to investigation without targeted WES (48/86 vs 39/86). Total costs were higher for targeted WES ($738 136 vs $661 103), but the cost per diagnosis were lower ($15 378 vs $16 951). Importantly, diagnostic costs were lower when targeted WES was performed early in the diagnostic evaluation ($455 597 vs $661 103), yielding a substantially lower cost per diagnosis ($9904 vs $16 951). "Early WES will reduce use of nongenetic, low-yield, and often repeated or invasive investigations," note the researchers. Howell KB, et al. A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy. Epilepsia : 11 May 2018. Available from: URL: http://doi.org/10.1111/epi.14087 803322689 1173-5503/18/0804-0001/$14.95 Adis © 2018 Springer International Publishing AG. All rights reserved PharmacoEconomics & Outcomes News 2 Jun 2018 No. 804
PharmacoEconomics & Outcomes News – Springer Journals
Published: Jun 2, 2018
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