Researchers Develop New Genetic Test for Autism

Bioethics   |   Rebecca Taylor   |   Oct 4, 2012   |   12:07PM   |   Washington, DC

Here I go jumping into the fray. I told myself I would never do it, and here I go. I cannot tell you how many times I have been asked about autism and vaccines, especially vaccines made with cells that originated with an aborted baby.

I have always answered these questions privately, never discussing them on this blog, because I know my opinions would certainly be misunderstood and misrepresented. I am not a doctor, I am not an expert on autism, I have never conducted research on autism and so my opinion has always been my opinion and I have kept it to myself.

So what do I say when people ask me if I think vaccinations cause autism? I say, in my very, very humble opinion, that I think it is too early to tell and it would be unwise to jump on that bandwagon without more evidence. Just because A seems to be link with B, does not mean that A causes B. It could be that B causes A. There could be another unknown factor C that, unseen, is the real cause of A. A being correlated with B is not good enough to prove that A causes B. As one very astute and funny man pointed out, just because you see tall people play basketball does not mean that playing basketball makes you tall.

Why do I say that faced with data that autism is on a dramatic rise? Because, while autism diagnosis is on the rise, I am not sure that cases of autism are on the rise. Thirty years ago my little brother was demonstrating some pretty bizarre behavior. Our general practitioner was no help. Today even a lay person could have looked at my brother and diagnosed obsessive-compulsive behavior, but back then it was a mystery. To some extent I think the same thing is happening with autism, especially the mild cases. Thankfully, autism awareness has increased greatly, but that means more children are likely to be diagnosed. Is it possible that the increase in autism is an increase in diagnoses and not cases? It could be.

What about the argument that children with autism are normal until they get vaccinations and then they suddenly show symptoms? Here I can only rely on my experience testing for a “Pervasive Developmental Disorder” (often known as “Autism Spectrum Disorder”) called Rett Syndrome. In Rett Syndrome, a girl (boys usually do not survive Retts) seems normal in her development until about 12 to 18 months. Then she regresses and loses the ability to speak or walk. We know that Rett Syndrome, in a majority of cases, has a genetic component, a mutation in an important gene on the X chromosome, that she had well before her symptoms began. But without this information would it not be easy to assume that the shots she got at the doctor caused her regression? It might.

It is my non-expert opinion that autism is complex. So complex that the cause it not likely as simple as a vaccination. I have always had the opinion there is a genetic component that, like in Rett Syndrome, may begin to show itself around the age of 2.

That being said, Australian researchers announced they have developed a test for several genetic markers associated with autism, giving them, they say, the ability to predict autism 70% of the time. From Disability Scoop:

Genetic testing for autism is one step closer to reality, researchers say, a development which may open the door for earlier diagnosis.

In a study published this week in the journal Molecular Psychiatry, Australian researchers report that they’ve developed a genetic test that can predict autism with more than 70 percent accuracy among people of central European descent. Further testing in other ethnic groups is ongoing.

The test is based on data from more than 3,300 Americans with autism and over 4,000 of their relatives. Researchers identified hundreds of genetic markers that are associated with an autism diagnosis or are known to protect people from developing the disorder. They then compared the number of risk markers versus protective markers present in an individual to assess their likelihood of having autism.

“This test could assist in the early detection of the condition in babies and children and help in the early management of those who become diagnosed,” said Stan Skafidas of the University of Melbourne who led the study. “It would be particularly relevant for families who have a history of autism or related conditions such as Asperger’s syndrome.”



Scientists said the promising findings may lead to earlier autism diagnosis and intervention, which could reduce the disorder’s long-term behavioral and cognitive effects.

Currently, autism diagnosis is based on clinical observation alone. The American Academy of Pediatrics recommends that all children be screened for the developmental disorder at 18 months, but a National Institute of Mental Health survey released earlier this year found that most kids are not diagnosed until after age 5.

Does this prove autism has a sole genetic cause? No because again, genetic markers correlated to autism does not mean these genetic variations cause autism, they are just associated with autism. There still maybe an unidentified environmental component. That component maybe vaccination sensitivity. Again, I think it is too early to tell and more research is needed taking into account a possible genetic predisposition.

But I think the good news here is that researchers are on the trail of autism and will hopefully soon capture and wrangle this monster to the ground.