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ERIC Number: EJ1465563
Record Type: Journal
Publication Date: 2025-Mar
Pages: 13
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-1362-3613
EISSN: EISSN-1461-7005
Available Date: 0000-00-00
Determining Rates of Genetic Testing in the Evaluation of Autism Spectrum Disorder and Intellectual and Developmental Disorder
Autism: The International Journal of Research and Practice, v29 n3 p698-710 2025
Genetic tests, such as Fragile X and Chromosomal Microarray, are recommended as a standard of care during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous research demonstrates low rates of genetic testing. This study aimed to identify the rates of genetic testing and patient demographic factors that may be associated by conducting a retrospective chart review of 7539 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders within a university healthcare network. Researchers created a database that listed patient demographics (race, gender, insurance, zip code), records of ordered but not completed tests, genetic test results and reasons for declining genetic tests (if noted), and other known barriers to genetic testing. Statistical analyses were conducted to determine associations between genetic testing rates and sociodemographic factors. 30.57% of patients received at least one indicated genetic test, while 11.31% received recommended concordant genetic testing. Findings suggest that while gender did not impact whether a patient received at least one genetic test, race and insurance did. Our review demonstrates that genetic testing is not sufficiently offered by physicians, and there are multiple barriers preventing patients from receiving genetic testing, which must be further investigated.
SAGE Publications. 2455 Teller Road, Thousand Oaks, CA 91320. Tel: 800-818-7243; Tel: 805-499-9774; Fax: 800-583-2665; e-mail: journals@sagepub.com; Web site: https://sagepub.com
Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Identifiers - Location: Florida; Georgia
Grant or Contract Numbers: N/A
Author Affiliations: N/A