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There are many things to consider before having genetic testing done. Here are a few common questions to ask yourself, if you are considering genetic testing for Ataxia.
We always recommend testing individuals with Ataxia symptoms first. This is due to the likelihood of finding a genetic cause for their Ataxia diagnosis. This type of genetic testing is called diagnostic testing. Once a genetic mutation/variant is identified in you, we have a confirmed genetic diagnosis.
Predicting testing is an option if you do not have symptoms but have a family history of a confirmed genetic diagnosis of Ataxia. Predictive testing can help determine your exact risk for family planning and/or future planning purposes.
Most common types of test results include positive, negative, and variant of uncertain significance (VUS, another way of saying inconclusive).
Positive results indicate your genetic test came back with a genetic change in a gene that explains why you develop Ataxia. Knowing this information can help you better understand your diagnosis, treatments, and the chance of passing Ataxia down to your children. Genetic testing can also help understand your prognosis. Prognosis is a term used to describe predictions of how your Ataxia symptoms will develop in the future. Also, knowing the exact genetic cause can sometimes provide you with opportunities to enroll in research studies and/or clinical trials.
Negative results indicated your genetic test did not identify a genetic change in the genes they analyzed. More comprehensive genetic tests, like clinical exome or genome sequencing, may be needed.
Inconclusive results mean that your genetic test identified a genetic change in a gene that we do not have sufficient information about at this time. We are unable to determine if the finding is associated with your Ataxia symptoms. Follow-up testing of family members, including your parents or other symptomatic individuals with Ataxia, may be helpful to improve our understanding of whether the variant is connected to Ataxia.
Your test results may impact your diagnosis, prognosis, and management. However, the results also have a significant impact on the family members. For example, if your results come back positive for a genetic form of dominant Ataxia (i.e. SCA3), your siblings have a 50% chance of having the same genetic variant, particularly if there is a family history of Ataxia. Your children also have a 50% chance of inheriting the variant. Therefore, we encourage you to talk to your family members before getting genetic testing given the potential psychosocial impact on the family.
Genetic testing involves analyzing your DNA sample obtained from blood, buccal swab, or saliva for genes in association with Ataxia. For individuals with an unknown genetic cause, a complete genetic test including Ataxia repeat expansion panel with or without exome or genome test may be indicated. Conversely, for individuals with a known family history of genetic confirmed diagnosis, a single gene test is needed.
Genetic testing can be expensive. The coverage for genetic tests varies greatly on your insurance plan, policy, and deductible. You may want to ask your health insurance about their coverage for genetic testing. This can help to determine if there is a potential out-of-pocket cost before initiation/completion of the test.
In 2008, the Genetic Information Nondiscrimination Act (GINA) was signed into federal law in the United States. GINA provides legal protections against genetic discrimination in health insurance coverage and matters related to employment. GINA does not provide protections for life insurance, long-term care insurance, or disability insurance. If you are considering predictive testing for the genetic Ataxia runs in the family, we recommend you look into GINA life insurance, to learn more about the protections GINA does and does not provide, as well as any relevant state laws.
Therefore, we recommend you talk to a genetic counselor to help you informed about the pros, cons, and limitations associated with the test is essential. You can find them through the National Society of Genetic Counselors website.
Written by Helen Jin Yun Chen, MS CGC
Edited by Celeste Suart, PhD
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