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Return of genetic research results in 21,532 individuals with autism
Journal article   Open access   Peer reviewed

Return of genetic research results in 21,532 individuals with autism

Jessica R. Wright, Irina Astrovskaya, Sarah D. Barns, Alexandra Goler, Xueya Zhou, Chang Shu, LeeAnne Green Snyder, Bing Han, Alexandria Aarrestad, Leonard Abbeduto, …
Genetics in medicine, v 26(10), 101202
29 Jun 2024
DOI: https://doi.org/10.1016/j.gim.2024.101202
Featured in Collection :   UN Sustainable Development Goals @ Drexel
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https://doi.org/10.1016/j.gim.2024.101202View
Published, Version of Record (VoR)CC BY-NC-ND V4.0,  Open

Abstract

Clinical genetics Exome sequencing Neurodevelopmental conditions Return of results Autism
Purpose: The aim of this study is to identify likely pathogenic (LP) and pathogenic (P) genetic results for autism that can be returned to participants in SPARK (SPARKforAutism.org): a large recontactable cohort of people with autism in the United States. We also describe the process to return these clinically confirmed genetic findings. Methods: We present results from microarray genotyping and exome sequencing of 21,532 individuals with autism and 17,785 of their parents. We returned LP and P (American College of Medical Genetics criteria) copy-number variants, chromosomal aneuploidies, and variants in genes with strong evidence of association with autism and intellectual disability. Results: We identified 1903 returnable LP/P variants in 1861 individuals with autism (8.6%). 89.5% of these variants were not known to participants. The diagnostic genetic result was returned to 589 participants (53% of those contacted). Features associated with a higher probability of having a returnable result include cognitive and medically complex features, being female, being White (versus non-White) and being diagnosed more than 20 years ago. We also find results among autistics across the spectrum, as well as in transmitting parents with neuropsychiatric features but no autism diagnosis. Conclusion: SPARK offers an opportunity to assess returnable results among autistic people who have not been ascertained clinically. SPARK also provides practical experience returning genetic results for a behavioral condition at a large scale.

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Collaboration types
Domestic collaboration
Web of Science research areas
Genetics & Heredity
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