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What Are the Benefits and Limitations of Ataxia Genetic Testing?


Genetic testing offers a range of valuable benefits to individuals and society. First of all, genetic tests can tell you if you are more likely to get certain diseases and conditions, which can help doctors catch them early and make personalized care plans for you.  

Ataxia can have various underlying causes, and many of these are associated with genetic mutations. Therefore, genetic testing is often a key step in determining the specific type and cause of Ataxia in an individual. 

There are different forms of Ataxia, each linked to specific genes. For instance, spinocerebellar Ataxias and Friedreich’s Ataxia are well-known genetic forms of Ataxia. Genetic testing helps identify the presence of specific mutations associated with these subtypes, aiding in accurate diagnosis and prognosis.  

Furthermore, genetic testing can be valuable for families with a history of Ataxia. If a person has a genetic form of Ataxia, their family members can undergo genetic testing to determine their own risk.  

For couples who want to start a family, genetic testing can show them if they might have a genetic form of Ataxia that they could pass on to their children. This knowledge can help them make choices about family planning.  

Genetic testing can also help doctors make sure that a person’s treatments and medicines are right for them based on their genes. This method of precision medicine can make treatments more effective and safer, reducing the number of bad reactions. 

Limitations and Risks

There are limits to the information genetic testing can provide people about Ataxia. Even if someone tests positive for a specific condition, we can not fully predict when they will begin showing symptoms or how severe their symptoms will be. Also, there are limited treatment options for many genetic Ataxias following diagnosis. This can be very disheartening for people to hear.  

The physical risks of genetic testing are small. Most tests require only a blood sample, cheek swab, or saliva sample. These types of samples are routinely collected in hospitals and are considered safe.  

However, there can be other non-physical genetic testing risks. This can include emotional, social, and financial consequences of genetic testing results. There can be complicated feelings surrounding genetic testing – with many people sharing that they feel anger, depression, anxiety, or guilt.  

There can also be tension within a family depending on what information is found through genetic testing. For example, some siblings may test positive for Ataxia while others do not. Additionally, testing positive for a genetic condition can lead to genetic discrimination. This is when people are treated differently by their employer or insurance company due to a genetic diagnosis. Thus, there are privacy concerns regarding how genetic testing information is shared.  

Speak to a Genetics Professional

There is a lot to consider when considering genetic testing. Speaking to a genetic counselor, medical geneticist, or other genetics professional can help you determine if genetic testing is right for you. They can explain in detail the benefits, risks, and limitations of specific kinds of Ataxia genetic testing.  

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