How to talk to your child’s doctor about genetic testing

Familiarize yourself with the conditions that can benefit from genetic testing and types of testing.

Sharing your ‘why,’ as well as all of your child’s symptoms, will help give the doctor the full picture. Some symptoms and conditions where genetic testing might be appropriate are:

• Epilepsy or seizures 
• Delays in developmental milestones (like rolling over, walking, or talking) 
• Intellectual disability 
• Birth defects or congenital anomalies (such as cleft palate or heart defects) 
• Growth issues or failure to thrive 
• Unusual muscle tone (either too low or too high) 
• Muscle or movement differences (like hypotonia, dystonia, or spasticity) 
• Cerebral palsy 
• Significant hearing or vision challenges 
• Autism spectrum disorder 
• Concerns about a metabolic or mitochondrial condition 

Check your coverage with your insurance provider. If the test is covered, make sure to let your doctor know.

It’s becoming more common for insurance companies to cover genetic testing, and yours may include it. While GeneDx accepts most insurance plans (including Medicare, Medicaid, and Tricare), it’s still a good idea to call your insurance provider and make sure, based on your child’s symptoms and specific plan.

Share your child’s health story and tell their doctor why genetic testing is important to your family.

A genetic diagnosis can help your child get better and faster care, make it easier to treat them, and potentially cut down on healthcare costs. But there are other reasons you can share with your child’s doctor, too. Those answers can unlock more personalized support for your child, so that you can:

• Work with your doctor to create a care or treatment plan for your child’s needs 
• Connect with families that have children with the same diagnosis, so you can find support from others in similar situations 
• Search for potential clinical trials that could help with your child’s genetic condition 
• Get insurance coverage for medical equipment or therapies 
• Feel greater peace of mind, knowing there’s a specific reason for your child’s symptoms 

Be sure to ask about exome or genome testing.

When thinking about genetic testing, keep in mind that not all genetic tests are the same and some look at genetic information in different ways. A panel test, for example, typically analyzes a handful to a few hundred genes that are associated with a certain medical issue.

In comparison, exome and genome tests can look for changes in approximately 20,000 genes at once making them more comprehensive overall. Be sure to ask your doctor if exome or genome testing is most likely to identify a diagnosis for your child’s medical issues.

And always remember: “Let’s just wait and see” isn’t your only choice.

Getting the right rare disease diagnosis often takes about 5 years and 16+ tests–but it doesn’t have to be that way for your child. It’s often necessary to advocate for your child and ask for what you want or need when you’re faced with “giving things time.”

There’s no harm in telling your provider you would prefer not to wait or asking, “What are we waiting for?” If your provider still doesn’t feel comfortable ordering the test, you can also seek a second opinion. Your child’s doctor may even suggest another doctor that has more specific experience with your child’s symptoms, making it easier to transfer medical records over to them.