Skip to content

Bill Nye the Science Guy is speaking at the 2024 Annual Ataxia Conference! Register now.  LEARN MORE!

Will My Genetic Test Results Have Implications for Family Members?

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.

Am I the best person to be tested first in my family?

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.

What kind of results would I get?

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.

How does testing impact my family members?

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.

What does a genetic test involve?

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.

Is the test covered by my insurance?

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.

Are there insurance discrimination issues associated with genetic testing?

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

Read Our Other Genetic Testing Articles

Why Is Genetic Testing Important for Ataxia Research?

Why Is Genetic Testing Important for Ataxia Research? Genetic testing plays a pivotal role in Ataxia research. This is due to the ability of genetic testing to pinpoint specific genetic mutations associated with different forms of the condition. By identifying these genetic variations, researchers can begin to research the underlying Read More…

Print Friendly, PDF & Email

Who Should Get Genetic Counseling and Testing for Ataxia?

Who Should Get Genetic Counseling and Testing for Ataxia? There are two scenarios where people should consider getting Ataxia genetic testing. This includes if you have been diagnosed with Ataxia or if a close relative has been diagnosed with Ataxia. Scenario 1: You Have Received an Ataxia Diagnosis You have Read More…

Print Friendly, PDF & Email

What Types of Ataxia Can Be Identified Through Genetic Testing?

What Types of Ataxia Can Be Identified Through Genetic Testing? Genetic testing can identify the specific type of hereditary Ataxia you have, as Ataxia can be a symptom of various genetic conditions. Based on your clinical examination, your genetic counselor will determine the type of genetic test that is most Read More…

Print Friendly, PDF & Email

What Should I Consider Before Getting Genetic Testing?

Will My Genetic Test Results Have Implications for Family Members? 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. Am I the best person to be tested first in my family? Read More…

Print Friendly, PDF & Email

What is the Typical Process of Getting Pre-Test Genetic Counseling?

What is the Typical Process of Getting Pre-Test Genetic Counseling? You may be wondering what to expect once you have scheduled your genetic counseling appointment. The below process outlines a typical genetic counseling session: Plan: Your genetic counselor will first review the plan for the visit. This ensures the patient Read More…

Print Friendly, PDF & Email

What Are the Most Common Ways to Give a DNA Sample?

What Are the Most Common Ways to Give a DNA Sample? Since our DNA is in every single cell of our body, there are many ways to provide a DNA sample for genetic testing. The genetic test most appropriate for you will have requirements on what types of samples are Read More…

Print Friendly, PDF & Email
Print Friendly, PDF & Email
Translate »

Join the Ataxia community today!

Become a free member for exclusive content from NAF.