Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders
Open accessAbstract
Autism spectrum disorders (ASD) is now a high profile and common concern in the population. Diagnosis has long been based on clinical findings, 1 but with increased recognition of a strong genetic contribution and a subset of cases with an underlying genetic syndrome, 2 clinical laboratory testing to search for genomic risk variants is now an important component of the diagnostic work-up. Chromosomal microarray is currently the recommended first-tier genetic test for ASD, 3 revealing deleted and duplicated segments of DNA. These relatively large copy number variations (CNVs), often affecting several genes, can account for 5–25% of ASD cases, depending on the cohort examined. 4
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Many clinical laboratories market next-generation sequencing test panels for ASD, and it has been asserted that there is a need to develop a validated list of genes appropriate for inclusion in ASD-specific clinical laboratory test panels.
“Despite the lack of strong evidence of ASD specificity of large-effect rare variants, many clinical laboratories market next-generation sequencing test panels for ASD, and it has been asserted that there is a need to develop a validated list of genes appropriate for inclusion in ASD-specific clinical laboratory test panels.42”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [42]
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Cites
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Insufficient Evidence for “Autism-Specific” Genes
Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.004 · Cited by 165 · see citing works
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- Authors
- Hoang, N., Buchanan, J. A., & Scherer, S. W.
- Affiliations
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- Corresponding author
- Hoang, Ny
- Scherer, Stephen W.
- Venue
- npj Genomic Medicine
- Published
- 2018-09-19
- Volume
- 3
- Issue
- 1
- Pages
- 27-27
- ISSN
- 2056-7944 (ISSN-L)
- PMC
- PMC6145925
- OpenAlex
- W2890649749
- Cited by
- 26
- References
- 14
- Citations by year
- 2026: 1 · 2024: 3 · 2023: 2 · 2022: 3 · 2021: 7 · 2020: 3 · 2019: 7
- FWCI
- 2.53
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- npj Genomic Medicine (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- GlaxoSmithKline
- Genome Canada
- University of Toronto
- Hospital for Sick Children
- Canadian Institutes of Health Research
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, genetic testing, copy number variation, chromosomal microarray analysis, genetic diagnosis
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