Return of genetic research results in 21,532 individuals with autism.
Genet Med
; : 101202, 2024 Jun 29.
Article
em En
| MEDLINE
| ID: mdl-38958063
ABSTRACT
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 (ES) of 21,532 individuals with autism and 17,785 of their parents. We returned LP and P (American College of Medical genetics (ACMG) criteria) copy number variants (CNVs), 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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MEDLINE
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article