ETHICAL CONSIDERATIONS AND CONTROVERSIES RELATING TO THE GENETIC STUDY OF NEURODIVERSITY AND AUTISM SPECTRUM DISORDER

Individual Abstract Autism has likely existed throughout human history, but it was not until 1980 that it was defined as a distinct diagnostic entity separate from childhood schizophrenia in the DSM-3. Subsequent versions of the manual have revised and broadened the criteria to diagnose autism (now referred to as autism spectrum disorder), increasing the number of individuals who meet the criteria. At the same time, clinical diagnoses have implications for patients and research studies, including (for patients) access to services, considerations for treatment, and inclusion in research. The expanded criteria have allowed for the increased provision of services to individuals in many geographic regions, and from a clinical perspective, increased access to healthcare is typically associated with better clinical outcomes. Access to care also stands to have a disproportionate impact on individuals historically less likely to be diagnosed with a clinical disorder, such as individuals of lower income, individuals of non-European ancestral populations, and those from historically medical/ social service-deprived areas. At the same time, autism spectrum disorder and intellectual developmental disorder appear to be two of the few psychiatric disorders where there is near consensus in the United States that genetic testing is clinically indicated. Importantly, expanded diagnostic criteria have, in some cases, resulted in lower diagnostic yields in studies of genetic testing. From a socioeconomic perspective, the need for personalized interventions typically strains the institutions tasked with providing such interventions, regardless of the institution’s educational, disability, or medical model orientation. This has, in turn, led to recent discussions regarding paring down the diagnosis to no longer include those without significant support needs, or re-creating subcategories within the diagnosis (such as Profound Autism). However, these discussions are occurring simultaneously during a time when a significant number of individuals remain undiagnosed, without access to intervention from which they may benefit. Genetics has been proposed as one way to potentially delineate those for whom a psychiatric diagnosis should be given, throwing psychiatric genetic experts into this debate. An added layer of complexity stems from studies indicating that a substantial proportion of individuals are expressing that they do not want genetic testing, if asked as an adult, mainly citing concerns about discrimination. In this session, we will engage in ethical discussion of the clinical, clinical genetic, and socioeconomic implications of diagnostic criteria for genetic studies of autism spectrum disorder. We will also consider implications for stigma mitigation efforts, and invite perspectives from individuals with expertise by experience.