Every day, parents just like me sit in doctors’ offices searching for answers. They know something isn’t quite right. Maybe their child isn’t meeting milestones. Maybe their development has stalled, or in some cases, has regressed. Medical complications may continue to pile up. Specialists are consulted, therapies are started, and years pass. Yet one of the most powerful tools for finding answers is often overlooked or incomplete: genetic testing.
As Genetic Testing Action Day approaches on July 25, we must ask an important question: Why are so many families still waiting years for a diagnosis that could change the course of their child’s care? Genetic testing should be a first-line tool for children with unexplained developmental delays, autism, intellectual disability, epilepsy, or complex medical conditions. The earlier we identify an underlying genetic cause, the sooner families can access appropriate medical care, support networks, research opportunities, and emerging treatments.
My husband and I are parents to four children. Our oldest daughter, Avery, is 20 years old and has Phelan-McDermid syndrome, a rare genetic condition caused by a spontaneous change in the SHANK3 gene. Our youngest child, Paxton, is 12 and has Tatton-Brown-Rahman syndrome, caused by a spontaneous change in the DNMT3A gene. What many people do not realize is that we had already “done genetic testing” years earlier. Avery underwent genetic testing when she was 4 and again when she was 6, but nothing was found. At the time, the technology available could not detect the variant that is ultimately responsible for her condition.
It was only years later, after science advanced and Paxton was born with his own set of challenges, that we revisited testing. By then, whole exome sequencing had become available, and after years of searching for answers, we received both diagnoses on the very same day through that testing.
That day changed everything.
The diagnoses did not cure our children. Avery remains profoundly disabled and medically fragile, requiring around-the-clock care. Paxton continues to face significant medical and developmental challenges.
But for the first time, we understood why.
After years of uncertainty, receiving those diagnoses felt less like getting bad news and more like finally being handed a map.
We gained access to syndrome-specific specialists, research studies, medical guidance, and communities of families facing similar challenges. Most importantly, the diagnostic odyssey was over. We also learned about critical health risks we never would have connected to Paxton’s autism and intellectual disability alone. Because of his Tatton-Brown-Rahman syndrome diagnosis, we now know he requires ongoing screening for certain cancers and cardiac conditions that can be serious or even life-threatening if left undetected. Without genetic testing, we would not have known those risks existed- or that we needed to watch for them.
In more than 25 years working with children with developmental disabilities and their families, I have witnessed this story countless times. As a Board Certified Behavior Analyst and Early Intervention Specialist, I have supported families through the uncertainty of not knowing why their child is struggling. As a mother, I have lived it myself. And what I have learned from both experiences is simple: genetic testing is often the missing piece of the puzzle.
Unfortunately, while our family’s story is extraordinarily rare, the years spent searching for answers are not. Throughout my career, I have met family after family who endured the same uncertainty we did- wondering why their child was struggling, moving from specialist to specialist, and waiting years before comprehensive genetic testing was ever discussed. Some were told to “wait and see.” Others bounced between specialists while underlying genetic conditions remained undiscovered. Every year spent waiting can mean missed opportunities for targeted medical care, clinical trials, family support, and most importantly, emerging treatments.
Our story may be extraordinary, but the need for answers is not. Every day, families of children with developmental disabilities, autism, epilepsy, intellectual disability, and rare diseases are searching for the same thing we were searching for twenty years ago: an explanation. Fortunately, the medical community is beginning to recognize what many families have learned firsthand- that genetic testing shouldn’t be a last resort.
For too many families, the search for answers has traditionally involved years of specialist appointments, inconclusive tests, and unanswered questions before genetic testing was ever considered. Fortunately, that is beginning to change. The American Academy of Pediatrics now recommends that exome and genome sequencing be considered as first-line tests for children with unexplained developmental delays or intellectual disabilities. Combined with previous recommendations from the American College of Medical Genetics and Genomics, the message is clear: genetic testing should be one of the first steps in a child’s diagnostic journey, not one of the last.
A genetic diagnosis is no longer simply a label. It can shape medical management, identify associated health risks, connect families to syndrome-specific communities, and increasingly provide access to precision medicine and gene-targeted therapies. As research accelerates, children cannot benefit from scientific breakthroughs if they remain undiagnosed.
Some argue that genetic testing is too expensive or that a diagnosis may not change treatment. But the question should not be whether families can afford answers. It should be whether we can afford to withhold them. Even when no cure exists, a diagnosis provides clarity, informs medical decisions, guides future planning, and empowers families with knowledge that can fundamentally change their journey.
That is why we created StartGenetic.org: to help families and professionals understand when genetic testing should be considered and how to access it. In honor of this upcoming Genetic Testing Action Day, I encourage healthcare providers to make genetic testing a routine part of evaluating developmental disabilities. I encourage insurers and policymakers to remove barriers to access. I encourage professionals working in the disability space to share StartGenetic.org with caregivers. And I encourage parents who are still searching for answers to ask questions, advocate for testing, and keep pushing forward.
Every child deserves access to answers. The technology exists. The medical guidance is clear. Now we must make sure every family has the opportunity to find the answers that could change everything.
Jenny Graham Beeson, M.S., BCBA, is an Early Intervention Specialist and Board Certified Behavior Analyst with more than 25 years of experience supporting children with developmental disabilities and their families. She is the co-founder of StartGenetic.org and serves on the boards of CureSHANK and the National Autism Association of North Texas. She lives in Frisco, Texas.
