Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.

Epilepsia
Arthur StefanskiDennis Lal

Abstract

Clinical genetic sequencing is frequently utilized to diagnose individuals with neurodevelopmental disorders (NDDs). Here we perform a meta-analysis and systematic review of the success rate (diagnostic yield) of clinical sequencing through next-generation sequencing (NGS) across NDDs. We compare the genetic testing yield across NDD subtypes and sequencing technology. We performed a systematic review of the PubMed literature until May 2020. We included clinical sequencing studies that utilized NGS in individuals with epilepsy, autism spectrum disorder (ASD), or intellectual disability (ID). Data were extracted, reviewed, and categorized according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Two investigators performed clinical evaluation and grouping following the International League Against Epilepsy (ILAE) guidelines. Pooled rates of the diagnostic yield and 95% confidence intervals were estimated with a random-effects model. We identified 103 studies (epilepsy, N = 72; ASD, N = 14; ID, N = 21) across 32,331 individuals. Targeted gene panel sequencing was used in 73, and exome sequencing in 36 cohorts. Given highly selected patient cohorts, the diagnostic yield was 17.1% for A...Continue Reading

References

Oct 6, 1997·BMJ : British Medical Journal·M EggerC Minder
Jul 22, 2009·PLoS Medicine·David MoherUNKNOWN PRISMA Group
Aug 10, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Vandana ShashiDavid G Goldstein
May 2, 2014·Human Molecular Genetics·Jacques L MichaudElsa Rossignol
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Apr 2, 2015·Australian and New Zealand Journal of Public Health·Priscilla Robinson, John Lowe
Sep 2, 2015·JAMA : the Journal of the American Medical Association·Kristiina TammimiesBridget A Fernandez
Oct 28, 2015·Nature Reviews. Genetics·Lisenka E L M VissersJoris A Veltman
Jul 22, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Aaron M WengerGill Bejerano
Mar 24, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisenka E L M VissersMichèl A A P Willemsen
Jan 13, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Caroline F WrightUNKNOWN DDD Study
Jun 6, 2018·JAMA Pediatrics·Christopher J YuskaitisAnnapurna Poduri
Jun 27, 2018·Nature Genetics·Henrike O HeyneJohannes R Lemke
Aug 21, 2018·Clinical Genetics·Maryam Al-NabhaniAlmundher Al-Maawali
Jan 6, 2019·Neurology·Iván Sánchez FernándezAnnapurna Poduri
Jun 12, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Siddharth SrivastavaUNKNOWN NDD Exome Scoping Review WorkGroup
Aug 13, 2020·Epilepsia·Guido RubboliKatrine M Johannesen

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

R package meta
R package RISmed

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