Genetic testing looks for the cause of a person’s disease. 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.
Knowing the genetic cause of a disease 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.
What can I expect from speaking with a genetic counselor?
1. Initial Visit
To start genetic counseling, you will complete an initial visit with the genetic counselor where you will be asked questions about your personal and family health history.
During your visit, the genetic counselor may draw out a genetic family tree to map out your family’s health history.
Based on your initial visit, the genetic counselor will order testing and explain what you should expect during testing and what possible results may occur based on your personal and family health history.
You will complete testing based on the genetic counselor’s recommendation.
After test results come back, the genetic counselor can help explain what your test results mean for you and your family.
The genetic counselor can also provide you with information about support systems, patient advocacy groups, research opportunities and other resources based on your results.
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.
How much does genetic testing cost?
We offer genetic counseling for patients and their families at no cost. Services at no cost include:
– Initial counseling visits
– Genetic testing result disclosure visits
– Ongoing counseling visits
– Family counseling visits
Genetic testing can be expensive, but we do not want that to be a barrier for you and your family.
Our genetic counselors will thoroughly research testing costs based on your insurance plan to find the most comprehensive, lowest-cost testing for you and your family.
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.
Interested in Genetic Counseling?
Our genetic counselors at the Fixel Institute are here to support you and your family in understanding how your genetics impact your health. Genetic counseling visits are offered in-person or telehealth via Zoom. Ask your care team about genetic counseling programs at your next visit.