PRECISION MEDICINE AND GENOMICALLY GUIDED TREATMENT IN AUTISM SPECTRUM DISORDER: ARE WE THERE YET?

Abstract

Genetic factors make up a large proportion of autism spectrum disorder (ASD) liability, and guidelines recommend genetic testing for all youth with ASD. However, the practicalities of how to implement and interpret this testing are not always clear. This series of talks will be able to answer some of these questions. In highlighting recent work they and others have conducted, the speakers will provide some context and guidance regarding 5 relevant aspects of genetic testing for ASD: 1) how to implement it in an inpatient setting; 2) how to implement it in an outpatient setting; 3) how and when to order pharmacogenomic testing; 4) what to do when a patient’s genetic test comes back positive for a single-gene change; and 5) the role that genetic copy number variation may play in defining and understanding ASD subtypes. In a series of brief talks, 5 speakers will describe different aspects of the state of knowledge regarding genetic testing in ASD. Afterwards, an independent discussant will reflect on the material presented, relating it to his own expertise and experience. In an inpatient setting, medical genetics education for child and adolescent psychiatry fellows may improve genetic testing rates. In the outpatient clinic, numerous parallel strategies, including administrative support, agreements with genetic testing providers, and a dedicated genomic psychiatry consult service, all may increase the rate at which genetic tests are ordered. Pharmacogenomic testing in ASD is supported by limited evidence, and broad genetic screening is not warranted currently, although current commercial testing may yield clinically actionable information. Several single-gene changes associated with ASD may have implications for clinical treatment. Copy number variants with distinct presentations may serve as models for meaningful ASD subtypes. The presentations and subsequent discussion will provide attendees with up-to-date knowledge regarding genetic testing in ASD, much of which will be directly applicable to their clinical practice.