Genetic testing for individuals with developmental disabilities is underutilized in the United States and many people with an autism diagnosis may not know about the opportunity for a genetic test or their impact. There has also been historical mistrust in the autism community about the intent of genetic research and genetic testing, and lingering concern about the use of genetic information, especially given the ubiquity of online platforms to store the data. We continue to urge scientists to listen to, carefully consider, and integrate solutions for the concerns of stakeholder communities to improve the process. The goal of genetic research is to expand the knowledge of the genetic underpinnings of human health to improve the quality of life for those with a genetic diagnosis..

 

On the balance of the risks and benefits of genetic testing for people with autism, we recommend that all individuals with an autism diagnosis, including biological parents, receive clinical genetic testing and feedback from a genetic counselor on their genetic results. A genetic test is not a substitute for a clinical evaluation, it is used to help understand the causes of that person’s autism to possibly narrow down and target treatment and support opportunities. Scientific research has identified over a hundred rare genetic conditions associated with ASD that explain and possibly de-stigmatize the spectrum of autism, help understand and manage co-morbid conditions associated with ASD like epilepsy and GI symptoms, personalize intervention and support options, and provide support to families through Patient Advocacy Groups represented in AGENDA. Understanding your genetic makeup is critical to not just an autism diagnosis but to your overall health. The genes associated with autism affect organs other than the brain, and genetic findings can inform other health providers about your needs.

 

There are many different types of tests, some compare the results to a set of genes that are known to be associated with autism. Others use an approach where genes in addition to those already known to be associated with ASD are tested. We support the use of Whole Exome Sequencing as the most sensitive type of genetic analysis to identify actionable genetic variants in the genome.  

 

When you receive your results, they should be discussed with a genetic counselor who will identify any known rare genetic variants in the person with autism and possibly whether they were inherited from the biological mother or father.  If there are no rare genetic variants, that does not mean the test was a failure or useless. You can use this information to inform other healthcare providers that a genetic analysis was done and certain variants were not present. Ruling out genetic mutations is as important as finding them. Whole Exome Sequencing technologies have the power to be very sensitive, but they may also show something called a Variant of Unknown Significance or VUS. This means a variant exists but scientists do not know what it means yet. Someone with the proper training and expertise must be able to guide you through the report and explain the findings. Otherwise, they could be open to misinterpretation.  

 

 

This position is in line with other organizations and societies including:

·      The American College of Medical Genetics 

·      The American Academy of Pediatrics 

·      Autism Speaks 

·      A Consensus Group of International Genetic Researchers and Clinicians 

 

 

How do I obtain a genetic test?

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The first step should be to talk with their neurologist, pediatrician, or other health care professional (usually the one who made the autism diagnosis in the first place)  to obtain a prescription for a genetic test and then work with your insurance company to determine what, if anything, will be covered. Each plan and company has its guidelines on this. Any genetic test should be followed by a meeting with a genetic counselor to discuss the results and identify genes that are known to be associated with autism, as well as gene mutations of unknown significance. We also urge families to contribute their data to genetic repositories where the analyses can be contributed to large studies investigating the role of different genes in different outcomes.

 

If your doctor does not know what to do next, please share this list of resources with them where they can connect with a company and that company can help with insurance coverage as well as facilitate the collection of the samples. Not all of them below use whole exome sequencing.  

• Ambry 

• Blueprint Genetics 

• GeneDx  

• Invitae  

• Prevention Genetics  

• Quadrant Biosciences  

• Sequencing   

 

 

What if my insurance does not cover it?  

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If you would still like to obtain a genetic test, there are options to obtain a CLIA (Clinical Laboratory Improvement Amendments) and College of American Pathologist accreditations. We do not recommend the use of Direct to Consumer testing kits in the absence of access to a board-certified genetic counselor.  

 

• SPARK:  This is a research study where a cheek swab is obtained and Whole Exome Sequencing is performed.  Families are notified of the results regardless of the outcome.

• Project FIND OUT:  This pilot project is currently screening infants and toddlers with developmental delays, but is expected to expand.   

• Visit the Autism Science Foundation Participate in Research Page.  Many research studies will collect and analyze your DNA and share the research results with you.  

 

 

Where else can I find information about genetic variants and links to autism?

 

GeneReviews -  an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. 

 

Global Genes Rare Concierge - a patient service guide that helps navigate the complicated world of rare and undiagnosed diseases.  They can help you find a specialist to help with a diagnosis or interpret results.

 

Alliance for the Genetic Etiologies of Neurodevelopmental Disorders and Autism - this is a collaboration of patient advocacy groups that help families with specific rare genetic disorders associated with ASD.  If you receive a genetic diagnosis and would like to connect with other families or understand research being conducted in rare genetic disorders associated with ASD, AGENDA can help.

 

 

For further reading and if you have any questions:

 

The Centre for Applied Genomics at SickKids Hospital in Canada includes excellent resources, including a flipbook explaining the role of genetics in an autism diagnosis. 

 

If you have any further questions or would like additional information, please reach out to CSO Alycia Halladay at: ahalladay@autismsciencefoundation.org