Forging the path for PRecISion Medicine in Autism: The PRISMA Neurogenetic Psychiatry Consultation Service

Abstract

Psychiatry is at a pivotal stage; advances in neuroscience and genetics are allowing us to understand more clearly how specific changes in neurodevelopment and genetic architecture are contributing to increased risk for several mental health disorders. Nowhere has progress been clearer than in autism spectrum disorders (ASDs), one of the psychiatric conditions with the highest genetic burden, as evidenced by their high heritability. Rare variants, which by definition occur in less than 1% of the population, have a large impact on the etiology of autism, as together they can explain up to 30% of cases of autism. These include highly penetrant copy number variants (CNVs), defined as losses or gains of genetic material, and single nucleotide variants (SNVs), characterized by changes in single base pairs. Because of the increased risk these rare variants confer, many professional societies, including the American Society of Human Genetics and the American College of Medical Genetics and Genomics jointly, the American Academy of Child and Adolescent Psychiatry, and others have recommended genetic testing as the standard of care or a key step in the workup of cases of ASDs. However, the adoption of these recommendations in psychiatry clinics has been quite low. In fact, only close to 5% of patients receive these tests in our population (submitted), which means that the overwhelming majority of people with ASDs are not benefiting from genetically informed health care.