Patient guide
How to talk to your child’s doctor about genetic testing
Genetic testing can feel like an overwhelming topic to bring up with your child’s doctor. Here are some resources and tips to help you feel more confident and prepared for the conversation.
Conditions that can benefit from genetic testing
If your child is experiencing any of the following health issues, genetic testing may be right for them.
- Epilepsy or seizures.
- Delays in developmental milestones (such as 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 (such as hypotonia, dystonia, or spasticity).
- Cerebral palsy.
- Significant hearing or vision challenges.
- Autism spectrum disorder.
Speaking with your child’s medical team about exome and genome testing can help unlock key insights to guide future care.
Getting the right rare disease diagnosis often takes about 5 years and 16+ tests¹˒², but it doesn’t have to be that way for your child.
Medical recommendations you can mention as a reason to consider genetic testing
Major medical organizations recommend exome or genome testing as a first-line option for many conditions, giving you solid guidance to start the conversation with your care team.
- The AAP (American Academy of Pediatrics) recommends exome or genome sequencing as a first-line test for children with global developmental delay or intellectual disability3.
- The American College of Medical Genetics and Genomics recommends exome or genome testing as a first-line test for kids with developmental delays, intellectual disabilities, and congenital anomalies4.
- The National Society of Genetic Counselors recommends exome or genome sequencing for anyone with unexplained epilepsy5. This guideline is supported by the American Epilepsy Society.
- The International Precision Child Health Partnership recommends rapid exome or genome as a first-line test for NICU patients with unexplained hypotonia6.
A genetic diagnosis can help your child get better and faster care
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 clinical trials that could potentially 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.
Check your coverage
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 to confirm coverage, based on your child’s symptoms and specific plan. Here are some resources to help understand your coverage:
Explore teleheath options for timely access to genetic experts
We understand that getting an appointment with your child’s care team can be challenging. GeneDx has genetic counselors and a telehealth partner available should you need additional assistance getting access to care. You can share your child’s symptoms with a genetic expert on a video call to see if genetic testing is right for your child. If they think it’s a good next step and you’d like to proceed, they’ll order the test and a sample collection kit will be shipped to your home. Your healthcare provider can also order an exome or genome test directly through the GeneDx Provider Portal.