Tafolla Maira, Amador Raquel, Oyeyemi Motunrayo J, Algaze Zach, Pandey Juhi, Goin-Kochel Robin P, Sarver Dustin E, Gulsrud Amanda
Semel Institute for Neuroscience and Human Behavior, University of California, 760 Westwood Plaza, Los Angeles, CA, 90024, USA.
Roberts Center for Pediatric Research, Children's Hospital of Philadelphia, 2716 South St, Philadelphia, PA, USA.
J Community Genet. 2024 Oct;15(5):559-572. doi: 10.1007/s12687-024-00724-9. Epub 2024 Aug 13.
Genetic research can help advance our knowledge of autism and positively impact the progress of care for individuals with autism. Asian American and Pacific Islander (AAPI) and Black participants remain significantly underrepresented in genetic research in autism in the United States, including nationwide, multisite, genetic consortiums like Simons Foundation Powering Autism Research for Knowledge (SPARK). Few studies have explored the unique motivators and barriers that influence participation in genetics research across underrepresented groups with autism and strategies to increase participation. Therefore, the aim of this study was to understand the perspectives of AAPI and Black parents of individuals with autism about participating in genetic research, specifically motivators (e.g., desire to know more about the relationship between autism and genetics) and/or barriers (e.g., mistrust of research staff) that may impact their decision to participate in genetic research. Using a mixed-methods approach, we collected surveys (n = 134) across the United States and conducted three focus groups with parents of individuals with autism (n = 16) who identified as AAPI and Black from two large metropolitan cities. No significant differences were observed in the survey data but findings from the focus groups elucidate shared motivators for participation (e.g., to help advance the autism field for future generations) and nuanced differences in barriers that influence Black and AAPI parents' decision to participate (e.g., different beliefs about the source of autism). Practical suggestions to improve outreach and study engagement in genetic research in autism were identified and discussed.
基因研究有助于增进我们对自闭症的了解,并对自闭症患者的护理进展产生积极影响。在美国,亚裔美国人和太平洋岛民(AAPI)以及黑人参与者在自闭症基因研究中的代表性仍然严重不足,包括在全国范围内的多地点基因联盟,如西蒙斯基金会推动自闭症研究以获取知识(SPARK)。很少有研究探讨影响自闭症代表性不足群体参与基因研究的独特动机和障碍,以及提高参与度的策略。因此,本研究的目的是了解自闭症患者的AAPI和黑人父母对参与基因研究的看法,特别是可能影响他们参与基因研究决定的动机(例如,渴望更多地了解自闭症与基因之间的关系)和/或障碍(例如,对研究人员的不信任)。我们采用混合方法,在美国各地收集了调查(n = 134),并与来自两个大城市的自闭症患者的父母(n = 16)进行了三个焦点小组讨论,这些父母分别为AAPI和黑人。调查数据中未观察到显著差异,但焦点小组的结果阐明了参与的共同动机(例如,为后代推动自闭症领域的发展)以及影响黑人和AAPI父母参与决定的障碍的细微差异(例如,对自闭症根源的不同看法)。我们确定并讨论了改善自闭症基因研究的外展和研究参与度的实际建议。