Autism in the Blood?

Autism in the Blood?

by Leslie Burby

Recently in the news, autism and blood tests have been a common thread.  The two main companies that seem to have caught my attention the most for autism research are Lineagen Incorporated with its FirststepDX genetics program and SynapDx Corporation on its quest to find a blood test to diagnosis autism.  Both companies are attempting to get children with autism the earliest diagnosis possible since early intervention has proven to be the most effective.  Right now, parents can have their child screened using the M-CHAT checklist for ASD (Autism Spectrum Disorder) at their 18 month and 24 month check up if there are any developmental delays or concerns.  However, most children don’t receive an official diagnosis until they are at least four and half years old, which means for three years the child is not receiving specialized services.  So by the time they enter kindergarten they are socially delayed and overrun with sensory issues that make it extremely difficult for kids with ASD to function.  With the help of identification through a blood test, children can obtain a faster diagnosis which in turn means that they don’t have to wait to receive services until kindergarten or first grade when a teacher raises concerns to the parents.  The effort to diagnose younger has been ongoing for years but scientists have revved up the research in the past year across the world.  Lineagen started their mission for finding an autism gene after Hakon Hakonarson, MD, Ph.D of his team at Children’s Hospital of Philadelphia discovered genetic variants and granted Lineagen exclusive commercial rights.  On May 17, 2012 Lineagen announced that they had completed their 9,000 – person study confirming the duplicated genes associated with ASD.

Autism In The Blog

My daughter was one of these subjects.  Her pediatrician asked if I wanted free genetic testing done on my daughter’s bloodwork.  At first, I said no because I didn’t want my daughter be poked and prodded like a “lab rat” or some sort of “medical guinea pig.”  However after discussing it with my husband and further explanation from the pediatrician and calls to Lineagen – we realized that she could be part of a major breakthrough.  We learned that Lineagen is a diagnostic healthcare company conducting free genetic testing in an effort to find an “autism gene.”  We opted to have it done in hopes that it will be of help to future generations.  After a few weeks our pediatrician presented us with a binder containing the findings, an explanation and an offer for genetic counseling.  The results were met with mixed feelings.  Lineagen had found that my daughter has duplications of five entire genes. The results went on to state,

“At this time it is unknown whether having an extra copy of any one of these five genes results in any clinical features. The duplicated region also contains a breakpoint in the FHIT gene.  Both deletions and duplications of the 3p14.2 region (including the FHIT gene) have been reported in patients with autism spectrum disorder.  However, the Database of Genomic Variants contains numerous reports of both deletions and duplications in intronic regions of FHIT suggesting that this duplication may be present in the general population.  In addition, one genome-wide association study showed that variants in an intron of FHIT (3p14.2 region) are associated with Asperger Syndrome…”

My daughter has been clinically diagnosed with Asperger Syndrome from various tests such as the M-CHAT.  So it was shocking to me to read that just one year later Australian scientists had come far enough to predict ASD in children.

In September of 2012, it was released that “Australian Scientists had developed a genetic test to predict autism spectrum disorders in children,” with more than a “70% accuracy rate in people with European decent.”  “The researchers used U.S. data from more than 3,000 individuals with autism in their study, published in the journal Molecular Psychiatry, to identify 237 genetic markers in 146 genes and related cellular pathways.”

On December 6th, 2012, Time posted an article stating that the “Boston Children’s Hospital researchers describe a new experimental test to detect the developmental disorder, based on the differences in gene expression between kids with autism spectrum disorder (ASD) and those without the condition. The blood-based test appears to predict autism relatively accurately, at least among boys, and has already been licensed to a company, SynapDx, for commercial development.”According to http://www.synapdx.com, “SynapDx’s approach measures RNA gene expression differences, which current research suggests can distinguish between people with ASDs and those without. SynapDx is in the process of conducting additional studies to validate this approach.”

So clearly scientists are making great strides in pinpointing genetic markers for autism which instills hope that we will someday be able to diagnose autism in toddlers to get them help starting at 18 months so they will be much closer in relation to their peers by the time they enter school.  Any help to increase social and language skills seems ok by me.

One Response to Autism in the Blood?

  1. I am very interested in this. My 5yo daughter has a duplication of 3p14.2-14.3 and also a deletion at 15q13.2-13.3 (15q13.3 microdeletion syndrome)

    There seems to be very little info on the 3p14.2-14.3 duplication around….do you know of or can you point me in the direction of more info on this please?

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