Will a New Genetic Blood Test for Autism Improve Early Detection?

December 07, 2012


By Dr. Bob Sears, Pediatrician and TACA Physician Advisory Member


Researchers at the Children’s Hospital of Boston have developed a genetic test to detect the most common gene mutations that occur in children with autism (1.) It is hoped that the new test can be used to detect autism earlier than current methods of observational developmental screening alone.

We know early detection is critical in autism.  Studies show early medical and developmental intervention are key factors in achieving recovery (2.) Infants and toddlers who begin therapies such as Occupational Therapy and Applied Behavioral Analysis Therapy (OT and ABA) tend to recovery and improvement more quickly and to a greater degree compared to children who don’t begin such therapies until age three or older.  In my practice, I also know medical and nutritional therapies also aid this recovery and improvement.

The question are: will this new genetic test be useful in a practical sense? Will it be worth the cost?

The Boston Children’s group has licensed the test to SynapDx, who hopes to develop the test for commercial use. The small initial study only looked at 66 kids with autism, and compared their genetics to 33 neurotypical kids.  Additional studies utilizing a larger population of autism and their typical peers will be needed to determine the usefulness of this technology.

The future challenge will be this: do we genetically screen every baby, watch those with abnormal genetics more closely for developmental delays, then begin therapy if and when we see those delays? Or do we begin therapy right away on every infant with an abnormal test result, even though some of those kids would not go on to develop autism? Do we test every baby, or only those who show delays. Will this test create more worry for parents unnecessarily, or will it allow early treatment to effectively prevent autism? What about false positives with other similar blood tests? It’s too early to tell.

What we do not know is how accurate is this type of genetic screening? Pediatric Neurologist Dr. Richard Frye, Director of Autism Research and Associate Professor at the University of Arkansas Children’s Hospital Research Institute, and one of my fellow TACA physician advisors, questions the usefulness of this form of testing:

“They are measuring gene expression and then assuming it has something to do with mutations in the genetic code, which is not necessarily the case. In fact, there is a lot of information that suggests that differences in gene expression in autism are due to differences in gene methylation and gene regulation, which would not change the genetic code.”

In practical terms, the best method of early detection is still the careful developmental observation of a pediatrician, the attentiveness of parents who know and watch the developmental milestones, and open and honest communication between the doctor and parents regarding any developmental worries.

In my opinion the most important of all is to never take a “wait and see approach” if early signs develop. If we witness any regression or developmental delays we need to recommend and begin developmental and biomedical therapies as soon as possible to achieve the best possible outcomes. The decision to seek out these therapies will be based on an infant’s development, not on a genetic test which needs much more research and verification before we get excited.

For parents concerned about developmental issues, please act as soon as you become aware. Get a referral and obtain help from other parents and medical professionals who know and can diagnose autism. TACA is here to help you get started.

In my opinion perhaps even more important than early detection is the concept of autism prevention. Numerous doctors and researchers are looking at how to influence the health of parents prior to becoming pregnant, following certain preventive recommendations during pregnancy and childbirth, and receiving appropriate pediatric medical care in a way that can reduce the risk factors that play a role in autism.

The take home message for parents: should parents go out and get this genetic test done on their babies? No. Should this test be done if developmental delays are seen? No. Genetic screening will eventually play a role in autism diagnosis and early detection, but the testing proposed by this study is not ready for everyday medical use until more research is completed and larger populations have verified the initial outcome.

Dr. Bob Sears – TACA Physician Advisory member

Pediatrician and author of The Autism Book, The Vaccine Book


Click here to review the early signs of autism: https://tacanow.org/about-autism/

Click here to find a TACA group near you: https://tacanow.org/local-chapters/

Click here to read Dr. David Berger’s article on Autism Prevention: http://www.autismone.org/content/preconception-infancy-environmental-and-nutritional-strategies-lowering-risk-autism-david-be