252  Whole exome sequencing in epilepsy: quality of reporting in literature. Issue 6 (27th May 2022)

• Record Type: Journal Article
• Authors: Shukralla, Arif; Lacey, Austin; Naggar, Hany El; Cavalleri, Gianpiero; Delanty, Norman
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 93:Issue 6(2022)
• Page Start: A86
• Page End: A86
• Publication Date: 2022-05-27
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2022-ABN.280
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Purpose: Whole exome sequencing is a new rapid and cost effective tool for the diagnosis of the epilepsies. Method: Our 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. Results: Total 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). Conclusion: Reporting 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. [e-mail]