Searching for Answers
Many parents worry when their child is not meeting developmental milestones. When you start searching for answers, the process can feel overwhelming and sometimes frustrating. For many families in the disability community, genetic testing can be one pathway that helps provide important answers.
Today, genetic testing is more accessible than ever before. Insurance companies are approving more in-depth tests, and medical providers are recommending them more often, especially when a child has complex medical or developmental concerns.
What Is Genetic Testing?
Genetic testing is a laboratory test that usually uses a blood or tissue sample to examine a person’s genes and proteins. These tests can help identify inherited conditions or risks for certain diseases.
According to the National Library of Medicine, genetic testing analyzes genes and proteins to assess inherited disease or risk and can help guide diagnosis and treatment.
For children with developmental differences, including autism, genetic testing can sometimes help families better understand what is happening in the body and what types of care or monitoring may be helpful.
A Parent’s Experience
Joslynn Christensen, a parent of a child with a disability and a staff member at the Utah Parent Center, shared her family’s experience with genetic testing:
“My son had many delays as a toddler. We had preliminary genetic testing done, but nothing was found. He was diagnosed with autism at age 4, but he still didn’t quite fit any typical pattern.
When he was 5, our family participated in the SPARK for Autism research study. I didn’t expect to receive any results. Several years later, I received an email saying they had found something.
Through whole exome sequencing—which examines every gene—they discovered a tiny de novo (random) mutation. This mutation caused a protein stop that explained many of my son’s developmental delays.”
For Joslynn’s family, the genetic information provided important insights.
“The results confirmed many things we already suspected, but they also gave us new information. We learned about possible risks like seizures or heart issues and which medications should be avoided. We were also connected with experts who understand my son’s rare genetic condition.
Just as importantly, we were able to connect with other families who are going through similar experiences and participate in research studies that may help improve my son’s quality of life.”
When Should Families Consider Genetic Testing?
Genetic testing may be worth discussing with your child’s medical provider if:
- Your child’s diagnosis does not fully explain their symptoms
- Your child does not yet have a clear diagnosis
- Your child has seizures or other medical concerns without a known cause
- Developmental delays are present, but the reason is unclear
In these situations, genetic testing can sometimes provide additional information that helps guide care.
How Does Genetic Testing Work?
The process usually starts with a referral to a genetic specialist (geneticist) from your child’s primary care provider.
- The geneticist may recommend initial genetic tests.
- If those tests do not identify a cause, families may choose to pursue more advanced testing, such as whole exome sequencing.
- Some research programs also provide testing opportunities.
For example:
- SPARK for Autism offers free genetic testing for individuals with an autism diagnosis.
- The Gene Kids program at Primary Children’s offers whole exome sequencing without requiring earlier tests first if there is a suspected genetic disorder.
Your child’s medical team can help you decide which option may be appropriate.
After Receiving Genetic Results
Receiving a genetic diagnosis can bring many emotions. Some families feel relief at finally having answers, while others experience grief or uncertainty.
Speaking with a genetic counselor after receiving results is an important step. Genetic counselors can:
- Explain what the diagnosis means
- Discuss possible health implications
- Answer family-specific questions
- Connect families with support groups and resources
Understanding the results and knowing where to turn for support can help families move forward with confidence.
Moving Forward
Genetic testing does not always provide answers, but for some families, it can open doors to better understanding, specialized medical care, research opportunities, and connections with other families.
If you are wondering whether genetic testing might help your child, talking with your child’s doctor or a genetic specialist can be a helpful first step.
