News and Notes from The Johnson Center

Q & A: What are biomarkers and why are so many people researching them?

JCCHD | Thu, August 09, 2012 | [Autism Treatment][Q and A ][Research]

Biomarkers are quantifiable, or measurable, substances that define what is ‘normal’ in our bodies, thereby providing a frame of reference for predicting or detecting what is ‘altered’ in a diseased state. Biomarkers are most commonly measured in blood samples, but can be measured in a variety of biological fluids and tissues. They are increasingly being investigated in studies of children with autism for many reasons.

First, if a biomarker for autism is identified (or more than one), it could provide a reliable screening tool for infants and children to determine their risk of developing an autism spectrum disorder (ASD).  If we can accurately determine a young infant is at risk, we could identify their need for services and appropriate care months (if not years) earlier, thus vastly improving their outcome.

Biomarkers may also be useful for improving the reliability of clinical diagnosis. Currently autism is defined and diagnosed based on behavioral symptoms; that is, there are no lab tests that clearly indicate whether a child does or does not have an ASD. Not surprisingly, a recent study showed that diagnoses vary quite a bit depending on who is doing the diagnosing. A biomarker could provide quantifiable, physical markers, leading to a diagnosis that would be clear to everyone, from parents to therapists to government agencies. This could result in quicker access to services from school districts, early childhood intervention, and coverage from insurance providers. Furthermore, prevalence studies and other forms of research would be infinitely more accurate.

Last, biomarkers may be useful in identifying new treatments, could confirm the need for specific treatments, and could be used to monitor the effectiveness of a treatment. Responses to a particular treatment would be definable and measurable. Questions about placebo effect and appropriateness of certain medical interventions would be answered in a clear, concise way. This would have big implications for care and coverage. This would also drive avenues of new research and potential treatments for ASD.

At The Johnson Center we have undertaken two biomarker studies in an effort to identify a diagnostic test for autism and for developing new treatments for those affected. These studies require a small sample of blood from boys and girls with autism, and a strict diagnostic assessment (a series of tests widely used by professionals to diagnose autism) to confirm diagnosis; this is a critical step in autism biomarker studies to ensure that any potential biomarker is not only accurate in detecting autism, but is also very specific to autism (if people with other conditions have the same biomarker, it isn’t useful as a diagnostic tool). A key component of these studies is the analysis of blood samples from healthy children – we need to be able to compare healthy to unhealthy, so that abnormal levels of certain proteins (or analytes) in a blood sample from a child with autism can be identified.

We are currently enrolling children both with and without autism for these biomarker studies. Participation requires a single blood draw at our Center, and the completion of two questionnaires. Compensation is available and every child who participates in research receives a “super hero” t-shirt and certificate, because they are heroes to us and to the entire ASD community.

You can click here for more information on these studies and how you can participate in this important research.

Blood sample