Literature DB >> 34994928

Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism.

Fiana Ní Ghrálaigh1,2, Ellen McCarthy3, Daniel N Murphy3, Louise Gallagher4, Lorna M Lopez3.   

Abstract

Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, "gene panels", marketed for application in autism. We evaluate the clinical utility of available gene panels based on existing genetic evidence. We determine that diagnostic yields of these gene panels range from 0.22% to 10.02% and gene selection for the panels is variable in relevance, here measured as percentage overlap with SFARI Gene and ranging from 15.15% to 100%. We conclude that gene panels marketed for use in autism are currently of limited clinical utility, and that sequencing with greater coverage may be more appropriate.
© 2022. The Author(s).

Entities:  

Keywords:  Autism; Genomics; Panel; Sequencing; Utility

Year:  2022        PMID: 34994928     DOI: 10.1007/s10803-021-05417-7

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN: 0162-3257


  9 in total

1.  Whole-genome sequencing of quartet families with autism spectrum disorder.

Authors:  Ryan K C Yuen; Bhooma Thiruvahindrapuram; Daniele Merico; Susan Walker; Kristiina Tammimies; Ny Hoang; Christina Chrysler; Thomas Nalpathamkalam; Giovanna Pellecchia; Yi Liu; Matthew J Gazzellone; Lia D'Abate; Eric Deneault; Jennifer L Howe; Richard S C Liu; Ann Thompson; Mehdi Zarrei; Mohammed Uddin; Christian R Marshall; Robert H Ring; Lonnie Zwaigenbaum; Peter N Ray; Rosanna Weksberg; Melissa T Carter; Bridget A Fernandez; Wendy Roberts; Peter Szatmari; Stephen W Scherer
Journal:  Nat Med       Date:  2015-01-26       Impact factor: 53.440

2.  Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.

Authors:  F Kyle Satterstrom; Jack A Kosmicki; Jiebiao Wang; Michael S Breen; Silvia De Rubeis; Joon-Yong An; Minshi Peng; Ryan Collins; Jakob Grove; Lambertus Klei; Christine Stevens; Jennifer Reichert; Maureen S Mulhern; Mykyta Artomov; Sherif Gerges; Brooke Sheppard; Xinyi Xu; Aparna Bhaduri; Utku Norman; Harrison Brand; Grace Schwartz; Rachel Nguyen; Elizabeth E Guerrero; Caroline Dias; Catalina Betancur; Edwin H Cook; Louise Gallagher; Michael Gill; James S Sutcliffe; Audrey Thurm; Michael E Zwick; Anders D Børglum; Matthew W State; A Ercument Cicek; Michael E Talkowski; David J Cutler; Bernie Devlin; Stephan J Sanders; Kathryn Roeder; Mark J Daly; Joseph D Buxbaum
Journal:  Cell       Date:  2020-01-23       Impact factor: 41.582

Review 3.  Autism spectrum disorder genomics: The progress and potential of genomic technologies.

Authors:  Fiana Ní Ghrálaigh; Louise Gallagher; Lorna M Lopez
Journal:  Genomics       Date:  2020-09-14       Impact factor: 5.736

Review 4.  A framework for an evidence-based gene list relevant to autism spectrum disorder.

Authors:  Christian P Schaaf; Catalina Betancur; Ryan K C Yuen; Jeremy R Parr; David H Skuse; Louise Gallagher; Raphael A Bernier; Janet A Buchanan; Joseph D Buxbaum; Chun-An Chen; Kira A Dies; Mayada Elsabbagh; Helen V Firth; Thomas Frazier; Ny Hoang; Jennifer Howe; Christian R Marshall; Jacques L Michaud; Olivia Rennie; Peter Szatmari; Wendy K Chung; Patrick F Bolton; Edwin H Cook; Stephen W Scherer; Jacob A S Vorstman
Journal:  Nat Rev Genet       Date:  2020-04-21       Impact factor: 53.242

Review 5.  Insufficient Evidence for "Autism-Specific" Genes.

Authors:  Scott M Myers; Thomas D Challman; Raphael Bernier; Thomas Bourgeron; Wendy K Chung; John N Constantino; Evan E Eichler; Sebastien Jacquemont; David T Miller; Kevin J Mitchell; Huda Y Zoghbi; Christa Lese Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2020-04-30       Impact factor: 11.025

6.  Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Authors:  Siddharth Srivastava; Jamie A Love-Nichols; Kira A Dies; David H Ledbetter; Christa L Martin; Wendy K Chung; Helen V Firth; Thomas Frazier; Robin L Hansen; Lisa Prock; Han Brunner; Ny Hoang; Stephen W Scherer; Mustafa Sahin; David T Miller
Journal:  Genet Med       Date:  2019-06-11       Impact factor: 8.822

Review 7.  Genetic Testing in Neurodevelopmental Disorders.

Authors:  Juliann M Savatt; Scott M Myers
Journal:  Front Pediatr       Date:  2021-02-19       Impact factor: 3.418

8.  SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs).

Authors:  Dan E Arking; Daniel B Campbell; Heather C Mefford; Eric M Morrow; Lauren A Weiss; Brett S Abrahams; Idan Menashe; Tim Wadkins; Sharmila Banerjee-Basu; Alan Packer
Journal:  Mol Autism       Date:  2013-10-03       Impact factor: 7.509

9.  Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders.

Authors:  Ny Hoang; Janet A Buchanan; Stephen W Scherer
Journal:  NPJ Genom Med       Date:  2018-09-19       Impact factor: 8.617

  9 in total

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