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Accepted (AM)Open Access (License Unspecified), Open
Journal article
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
GENETICS IN MEDICINE, v 24(9), p1899
Sep 2022
PMID: 35616647
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not. Methods: Using the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship. Results: As of September 2021, 156 gene-disease pairs have been evaluated. Although most (75%) were determined to have definitive roles in NDDs, 22 (14%) genes evaluated had either Limited or Disputed evidence. Such genes are currently not recommended for use in clinical testing owing to the limited ability to assess the effect of identified variants. Conclusion: Our understanding of gene-disease relationships evolves over time; new relationships are discovered and previously-held conclusions may be questioned. Without periodic re-examination, inaccurate gene-disease claims may be perpetuated. The ID/Autism GCEP will continue to evaluate these claims to improve diagnosis and clinical care for NDDs. (C) 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
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Details
- Title
- Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
- Publication Details
- GENETICS IN MEDICINE, v 24(9), p1899
- Publisher
- ELSEVIER SCIENCE INC; NEW YORK
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Drexel University
- Web of Science ID
- WOS:000855692500011
- Scopus ID
- 2-s2.0-85130941604
- Other Identifier
- 991021861283104721
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- Collaboration types
- Industry collaboration
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Genetics & Heredity