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:
PharmacoEconomics & Outcomes News 2 Jun 2018 No. 8041173-5503/18/0804-0001/$14.95 Adis © 2018 Springer International Publishing AG. All rights reserved