Whether you’re just starting out or navigating next steps, these resources are designed to help at any stage of the genetic testing process.
Find community and support.
What Is Genetic Testing?
Your genes are a powerful tool for health. Think of your body as having a unique instruction book: your genes. Genetic testing is like a spell-check for these instructions, looking for any changes or “variants” that might be misspelled or missing.
Sometimes, these variants are passed down from parents or grandparents. But many times they are happening for the very first time in a child – with no family history at all.
Genetic testing may help find these changes in you or your loved one’s genes. A genetic test uses a sample of blood or saliva sent to a specialized lab. There, scientists “read” the DNA and send a detailed report to your doctor, who can explain what the results mean for you.
Variants can be linked to certain conditions like autism or epilepsy. Identifying them can unlock a path to care that would otherwise take years to find.
Additional Resources
Genetic testing can be a complex experience. We’ve created the following resources to help you as you navigate each step of the genetic testing process.
-
A plain-language guide to the terms you’ll encounter during the genetic testing process.
De novo - A genetic change that occurs for the first time in a person and is not inherited from their parents.
Genetic counselor - Genetic counselors have advanced training in medical genetics and counseling to guide and support patients seeking more information about how inherited diseases and conditions might affect them or their families, and to interpret genetic test results based on your personal and family history.
Gene - A gene is a specific segment of DNA on a chromosome that carries the instructions for making proteins or RNA molecules.
Variant - A gene variant is a permanent change in the DNA sequence that makes up a gene. This type of genetic change used to be known as a gene mutation, but because changes in DNA do not always cause disease, it is thought that gene variant is a more accurate term.
-
Depending on the specific type of test, there are a few different results that you may get back.
Negative (-)
No genetic changes were found at this time.
This does NOT mean that the condition isn’t genetic, but that the current testing did not identify a genetic cause yet.
Research studies may be available for individuals who are undiagnosed.
Follow-up with genetics providers is recommended over the years to see if updated results may provide a diagnosis in the future.
Uncertain (?)
A genetic change was identified, but the lab does not know at this time if the change causes a genetic condition.
Genetic testing in other family members, such as parents or siblings, may be recommended to help interpret the results.
How the genetic change (i.e., variant) is classified can change over time with new research, meaning that it may later be classified as “positive” or “negative”.
Follow-up with genetics providers is recommended over the years to see if updated results may provide a diagnosis in the future.
Positive (+)
A genetic change was found that causes the medical/developmental features in the person = a diagnosis.
There may be a specific “name” for the diagnosis, such as Williams syndrome or Angelman syndrome, or the condition may be named after the specific gene (i.e.SCN1A-related epilepsy).
Diagnosis-specific management guidelines may be available
Cost of Genetic Testing
Many insurance plans, including Medicaid, now cover the genetic tests you might need. If your insurance company says no at first, you have a couple options that may work:
Ask them again (also known as “an appeal”)
Ask the doctor to call them (also known as “a peer-to-peer appeal”)
If your insurance denies coverage or if you are required to pay a large amount yourself (such as a high co-pay), there may be other options available that you can discuss with your doctor. These options include research studies, sponsored testing, or financial assistance. Some of these studies give you a report that can be shared with your doctor to help make decisions about you or your loved one’s care.
Patient Advocacy Groups
There’s a wide range of patient advocacy organizations for genetic conditions. Your doctor or a genetic counselor can also provide recommendations for support groups for a specific disease.
Learn about genetic testing for kids at the Genetic Support Foundation.
