Arcebido Kyla, Tuliao Emily Val, Ibarra Andryella Maxie, Russell Kai, Valdes Aracelly, Shinkre Sohum, Gefen Samantha, Evans Amelia, Barella Sabrina, Wadei Joelle, Quinon Isabella, Soda Takahiro
University of Florida, USA.
Autism. 2025 Mar;29(3):698-710. doi: 10.1177/13623613241289980. Epub 2025 Jan 7.
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.Lay abstractGenetic testing is recommended by various professional organizations as part of clinical guidelines during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous studies demonstrate that rates of genetic testing are low. This study aimed to identify the rates of genetic testing within a large university healthcare network and factors that may be associated with higher or lower rates. Researchers reviewed over 7500 electronic health records of patients who were evaluated for ASD or other neurodevelopmental disorders. Some factors that were recorded include patient demographics (race, gender, insurance, zip code), ordered but not completed tests, genetic test results and reasons for declining genetic tests if noted, and other known barriers to genetic testing such as blood draws and specialties of providers seen by patients. Statistical analysis was conducted to determine associations between rates of genetic testing and different factors recorded in our database. Our results demonstrate that less than half of patients received at least one indicated genetic test, while a smaller percentage received recommended genetic tests. While sex assigned at birth and gender did not impact whether a patient received at least one indicated genetic test, race and insurance did. Our review reveals that genetic testing is not sufficiently offered by physicians, and we have identified multiple obstacles that prevent patients from receiving genetic testing which must be further investigated.
基因检测，如脆性X检测和染色体微阵列检测，被推荐作为评估自闭症谱系障碍（ASD）和其他神经发育障碍时的标准医疗手段。然而，先前的研究表明基因检测率较低。本研究旨在通过对大学医疗网络中7539例因ASD或其他神经发育障碍接受评估的患者的电子健康记录进行回顾性图表审查，来确定基因检测率以及可能与之相关的患者人口统计学因素。研究人员创建了一个数据库，列出患者的人口统计学信息（种族、性别、保险、邮政编码）、已订购但未完成的检测记录、基因检测结果以及拒绝基因检测的原因（如有记录），以及其他已知的基因检测障碍。进行统计分析以确定基因检测率与社会人口学因素之间的关联。30.57%的患者接受了至少一项指定的基因检测，而11.31%的患者接受了推荐的一致性基因检测。研究结果表明，虽然性别并不影响患者是否接受至少一项基因检测，但种族和保险会产生影响。我们的审查表明，医生提供的基因检测不足，并且存在多种阻碍患者接受基因检测的因素，必须进一步进行调查。
各种专业组织建议将基因检测作为评估自闭症谱系障碍（ASD）和其他神经发育障碍临床指南的一部分。然而，先前的研究表明基因检测率较低。本研究旨在确定在一个大型大学医疗网络中的基因检测率以及可能与高低检测率相关的因素。研究人员审查了7500多例因ASD或其他神经发育障碍接受评估的患者的电子健康记录。记录的一些因素包括患者的人口统计学信息（种族、性别、保险、邮政编码）、已订购但未完成的检测、基因检测结果以及拒绝基因检测的原因（如有记录），以及其他已知的基因检测障碍，如抽血和患者就诊的医疗服务提供者的专业领域。进行统计分析以确定基因检测率与我们数据库中记录的不同因素之间的关联。我们的结果表明，不到一半的患者接受了至少一项指定的基因检测，而接受推荐基因检测的患者比例更小。虽然出生时指定的性别和性别并不影响患者是否接受至少一项指定的基因检测，但种族和保险会产生影响。我们的审查显示，医生提供的基因检测不足，并且我们已经确定了多种阻碍患者接受基因检测的障碍，必须进一步进行调查。
