RESEARCH

"We're looking to understand how genetic information, of people with autism and other neurodevelopmental and psychiatric conditions can inform healthcare"

OUR MISION

"We're looking to understand how genetic information, of people with autism and other neurodevelopmental and psychiatric conditions can inform healthcare"

Autism Spectrum Disorders (ASD), which affect over 1% people worldwide, have a strong genetic component, as evidenced by their high heritability. Multiple rare copy number variants (CNVs) and single nucleotide variants (SNVs) have been strongly associated with autism. Even though specific genetic variants are rare individually, with none of them accounting for more than 1% of the cases, in aggregate they can explain up to 40% of cases, and potentially impact more people with ASD in the US than those infected by HIV, for example. Because of this, genetic testing, specifically chromosomal microarray testing (CMA) and Fragile X testing, are considered the standard of care for ASD and are recommended by multiple professional societies. However, there is a a low adoption of clinical genetic testing for ASD in the community, as well as a clear lack of a clear roadmap for using the results of genetic testing in psychiatry treatment algorithms.

Our current research focuses on :

  • understanding the barriers and facilitators to genetic testing at the patient, physician, and systems level in healthcare settings in order to increase the adoption of genetic testing for ASD

  • Developing and implementing systematic, evidence-based approaches to using genetic information in clinical care for psychiatric conditions that have a high heritability, moving our field towards precision medicine.