Health Disparities of Patients with Fragile X from Diverse Racial & Ethnic Groups

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Project Summary Fragile X syndrome (FXS) is the most prevalent monogenic cause of intellectual disability and autism. Clinical studies on patients being seen in specialized clinics have shown that this X-linked disorder has a substantial impact on the health and well-being of patients and families. FXS remains significantly underdiagnosed despite increased emphasis on identification of individuals with FXS, patient advocacy, and accessibility of genetic testing. The impact of this condition across racial and ethnic groups is unknown and the rate and prevalence of co-occurring conditions has not yet been characterized using representative populations. An unmet need exists to develop novel pre-screening approaches that are able to alert physicians to potentially undiagnosed cases and refer them for genetic testing. This application proposes research that will not only advance knowledge of clinical risk associated with FXS but will also offer insight into development of innovative pre-screening approaches that can improve diagnostic practices for other complex underdiagnosed conditions. The present research will be the largest population-level study of health characteristics of individuals with FXS from diverse racial and ethnic patient groups. The electronic health records (EHRs) from more than 15 million patients in CAPriCORN (the Chicago Area Patient-Centered Outcomes Research Network) will be used for this study. CAPriCORN includes 11 different health care systems/sites (with one FXS Specialized Clinic) in metropolitan Chicago. 1008 patients have been identified who have a diagnostic code for FXS in their EHRs (318 females, 690 males) of whom 293 are Non-White, 110 are Hispanic, and the others are non- Hispanic Whites. By including patients from diverse racial and ethnic groups, and by utilizing discovery-oriented approaches and artificial intelligence (AI) techniques, our proposed research will evaluate phenotypic characteristics of individuals with FXS more representative of the US population. Our Specific Aims are: (1) To detect the rate of FXS diagnosis (and under-diagnosis) in patients from diverse racial and ethnic groups; (2) To characterize the diagnostic patterns in FXS patients from diverse racial and ethnic groups; and (3) To construct an AI-assisted pre-screening tool to find potential cases with FXS who have not yet been diagnosed and validate the tool with racially and ethnically diverse patient groups. Additionally, we will investigate the impact of access to specialty clinics by characterizing the differences/similarities in age of diagnosis, diagnostic odyssey, and health care utilization between patients served by the Fragile X Clinic at Rush University and patients from other CAPriCORN sites. We have organized a multidisciplinary team of scientists with expertise in biostatistics, biomedical informatics, genetics, pediatrics, developmental psychology, epidemiology, and social science. With substantial experience in using EHR data for clinical and translational research, and with a long successful track record of conducting collaborative multi-institutional studies on FXS, our team has exceptional ability to achieve these research goals.