What can genetic testing tell me about my ataxia?
The goal of genetic testing is to determine if someone’s ataxia has a genetic cause. Our genes are like an instruction manual – they tell our bodies how to grow and function. When there is a change in a gene (sometimes called a variant, or a mutation), the body may not be able to read and follow that instruction, resulting in disease. Not all types of ataxia are genetic. Knowing if a person’s ataxia has a genetic cause can help to clarify a diagnosis, guide clinical care, and determine eligibility for treatments and research. Additionally, genetic testing can inform if your family members are at risk for disease.
How is genetic testing done?
There are a variety of test methods that can be used to look for gene changes. What test is right for you will depend on your disease and your health history. In general, a sample of either blood or saliva can be collected and sent to the lab for genetic testing. The lab will then send the test results to your provider to discuss with you.
How can a genetic counselor help?
The goal of genetic counseling is to educate patients, family members, and other healthcare providers about genetics. Genetic counselors can help determine the right type of genetic testing is appropriate for a patient and interpret test results. They can also educate you about your test results, help guide family conversions about genetic disease, and connect you with resources, such as patient advocacy groups.
What can I expect from speaking with a genetic counselor at UF Health?
The genetic counselor will ask you questions about your own health history, and questions about your family’s health history. They may draw out a genetic family tree, known as a
pedigree. If genetic testing is ordered, the genetic counselor will explain beforehand what that testing will look for and what possible results could be. After testing is done, a genetic counselor can explain your test results, and what they mean for you and your family. Your genetic counselor will provide you information about support systems, patient advocacy groups, research opportunities, and other resources to learn more about ataxia.
How much does genetic testing cost?
The cost depends on the specific test ordered, the testing lab, and your insurance. The genetic counselor/team can work with you to find the best possible option.
Can my family get tested?
If your ataxia has a genetic cause, testing is available for your family members. There are two types of family testing:
- Predictive testing – genetic testing for asymptomatic individuals who are at risk for developing symptoms based on family history
- Diagnostic testing – genetic testing for symptomatic individuals who have a known genetic ataxia in their family
Your family member should speak with a genetic counselor before pursuing testing to ensure the appropriate test is ordered.
Will genetic testing impact my insurance?
A federal law called the Genetic Information Nondiscrimination Act (GINA) prohibits discrimination based on the results of genetic tests by health insurance companies. This means health insurers cannot raise rates or drop coverage because someone has had a genetic test. GINA also protects people from employment discrimination based on results of a genetic test, if your company employs more than 15 people. In Florida, HB1189 prohibits discrimination by life, disability, and long-term care insurers based on the results of genetic tests.