A novel precision medicine approach enhanced by artificial intelligence (AI) has laid the groundwork for what could be the first biomedical screening and intervention tool for a subtype of autism, reports a new study.
“Previously, autism subtypes have been defined based on symptoms only—autistic disorder, Asperger syndrome, etc.—and they can be hard to differentiate as it is really a spectrum of symptoms,” said study co-first author Dr. Yuan Luo.
“Our study is the first precision medicine approach to overlay an array of research and health care data—including genetic mutation data, sexually different gene expression patterns, animal model data, electronic health record data and health insurance claims data —and then use an AI-enhanced precision medicine approach to attempt to define one of the world’s most complex inheritable disorders,” said Luo.
“The map and magnifier approach showcases a generalizable way of using multiple data modalities for subtyping autism and it holds the potential for many other genetically complex diseases to inform targeted clinical trials,” said Luo.
“Today, autism is diagnosed based only on symptoms, and the reality is when a physician identifies it, it’s often when early and critical brain developmental windows have passed without appropriate intervention,” said Luo.