Genetic test results can confirm a genetic component to a child's ASD and allow families to more quickly access services. Using the test results clinicians can employ the experiences of other children who have the same condition. For example, providers are able to alert families to potential medical concerns that may have occurred in children with the same or similar diagnoses. Using new information for preventive surveillance, medical concerns can be addressed before symptoms even appear. Finally, parents might be given a window into what to expect in their child's future. Working together, clinicians and researchers are sharing knowledge about what they are seeing as young children with ASDs pass through the developmental stages. They can pass this along to parents of similar children so that time can be used to prepare and address challenges, and advocate for a child's anticipated needs. Genetic testing that identifies a specific cause for a patient's ASD diagnosis facilitates much more accurate genetic counseling about the chances that future children born to parents of a child with ASD would inherit the same genetic risk factor for ASD.

Findings Expand Knowledge Base for Autism Researchers

One of the Autism Consortium's most important objectives is spreading the word that in order to understand the causes of autism and develop new treatments, it is vitally important that families enroll in research.

"The Autism Consortium is extremely grateful to all of the families who have participated in our research studies," said Deirdre Phillips, Executive Director. "We know that families are so busy dealing with their own day-to-day challenges and yet their participation adds to the pool of data and information needed to understand the causes of autism and to find effective treatments and therapies. The Autism Consortium encourages families to become vested partners in the research process, participating in studies whenever they can to provide the broadest possible foundation for new discoveries that will lead to new treatments."

Autism genes have been difficult to identify because the disorder is complex, with a variety of causes stemming from many possible genes or combinations of genes. In addition, since people with autism tend not to have children, most of the genes identified thus far aren't inherited from a parent, but instead are mutated during embryonic development, making them hard to track through traditional genetic studies in families. Clinical genetic testing is adding to the body of knowledge that researchers are using to understand the genetics of autism.