252 Whole exome sequencing in epilepsy: quality of reporting in literature

Abstract

PurposeWhole exome sequencing is a new rapid and cost effective tool for the diagnosis of the epilepsies.MethodOur primary aim was to assess the quality of reporting of WES. Secondary aims; to compare the quality of studies based on journal type if recent ACMG guideless have made influenced reporting quality; if any outcome reporting biases exist.We analysed studies of whole exome sequencing in epilepsy. We used a self-constructed benchmark to quantitatively analyse studies, explore retrospectively if reporting trends have changed.ResultsTotal of 307 studies was included. Reporting of data was heterogenous with poor reporting of diagnostic yield in 6% of studies, incidental findings in 11%, variants of undetermined significance in 19%. Predictors of poor reporting included: Journal type, proband status and case reports. Pairwise compari- sons of genetics journals versus other journals using relative risks yielded significant differences in reporting of consanguinity status (RR 1.27 CI 1.04–1.55); variant filtering (RR 1.95 CI 1.41–2.7) and determination of pathogenicity (RR 1.35 CI 1.17–1.56).ConclusionReporting of WES data in the medical literature is heterogenous, making comparisons across studies difficult. Formal structured guidelines similar to the CONSORT guidelines are needed to address this issue further.arifshukralla@gmail.com