Genetic Testing in the Developmental Disabilities population – Why it is important

January 5, 2017January 4, 2017 Scott Fowler

Several years ago, we were thrilled with the birth of our first child. So much awaited us, and we looked forward to watching him grow. There were all the milestones we would celebrate in his life, and all the joys of parenting. As our son grew, however, something else occurred that we did not expect. Instead of celebrating his first birthday, we endured his first seizure. Instead of dressing him in wonderful outfits and attending playdates, we experienced hours long meltdowns. The first haircut we dreamed of, turned into a nightmare. We were not expecting any of this, and we struggled to cope, with our joy replaced with anxiety, fear and dread of what our son may be facing. We began very intensive early intervention (which is very costly without a diagnosis), and spent hours with our provider team trying to figure out how we could best help him. All those hours turned to days, weeks, and eventually years, with no real answers. Like many parents, we struggled to find resources, spent hours researching options, and generally scrambled to do all we could to help him. Literally it was years from when we detected the first signs that concerned us to his eventual diagnosis. That diagnosis was, in a word, crushing– our son is autistic.

We then threw ourselves into learning all we could about our son’s new challenges, experiencing success and failures, heartache and joy. It was just after his diagnosis that we learned of genetic testing as a tool to help our son, and possible insights to his autism. We were quite concerned about co-morbid (associated) issues like his seizures, but also worried about attentional issues that may impact him. Like all concerns in the autism community, we knew the earlier we could address challenges, the better the life outcome for him. What would the testing reveal? Was there a coming event horizon yet undetected? We also worried that the testing would be costly. Would insurance cover this?

We moved ahead with our provider selecting a test, and had a sample collected and processed. We were pleasantly surprised to find that our insurance covered the full cost of the test, and the entire process was much smoother that we ever dreamed. Through the testing, we learned much about our son. We were able to mitigate and address issues, and as a direct result, he leads a very happy life. Will we continue to face challenges? Of course, we will. Does genetic testing provide all the answers in life. Of course, it does not. However, all caregivers and providers working with autistic (or potentially autistic) children should take note – this is a tool for early intervention.

We are blessed with a wonderfully skilled pediatrician who understands the value of early intervention to speed up not only the diagnostic odyssey, but who also realized the powerful potential of genetic testing as a tool for present and future concerns. Genetic testing (as a first-tier diagnostic tool) is endorsed by the American Academy of Pediatrics, which says a lot about the value of this type of testing. More and more insurance companies (including TRICARE) are now covering either all, or nearly all the testing. More and more Pediatricians and Developmental Pediatricians (as well as a host of other associated medical professionals) recognize the value of the data the testing provides to speed up the process of diagnosis. Specifically, the testing does not provide a diagnosis – rather, the provider has additional tools with which to make a more accurate diagnosis. This is the key to genetic testing, as an accurate diagnosis as soon as possible allows parents to get much needed help and intervention which is so critical to the development of a child with a developmental disability such as autism.

I now work with a company that provides an electronic ordering portal for genetic testing, that reduces paperwork and time for providers, and I facilitate the process between medical professionals and families. There is no cost for the portal to providers, and they simply select the appropriate test from a host of world class genetic testing vendors. These vendors directly bill insurance and attend to any challenges so that caregivers and providers do not. This allows for providers to simply order a test and review the results without either themselves or their office staff having to attend to the insurance process, resulting in faster, more accurate diagnosis. This process also takes the strain away from parents regarding the insurance company, allowing them to more fully focus on caring for their child.