MODULE 3

Genetic counseling & genetic testing

Genetic counseling considerations

GENETIC COUNSELORS are healthcare professionals who can help support you learning more information about SCA27B, explain how this might affect you or your family, and discuss options and logistics for genetic testing. 

People with late-onset neurodegenerative diseases and their at-risk relatives can face complex and challenging decisions when considering genetic testing. The decision to undergo genetic counseling and genetic testing is personal, and the best decision depends on many factors. 

Many patients seek genetic testing for different reasons. Some choose to receive testing to find an explanation for their health concerns or know if they might be at risk to develop a disease that runs in their family. Others choose to receive genetic testing to learn more about the chance for their family members to have similar health concerns. Some may choose to not undergo genetic testing now or ever. A genetic counselor or another healthcare provider such as a neurologist can help you and your family explore the risks, benefits, and limitations of genetic testing.

For SCA27B, genetic testing determines the number of GAA repeats in each copy of the FGF14 gene.

If you are interested in speaking with a genetic counselor about SCA27B, you can use the National Society of Genetic Counselors FIND A GENETIC COUNSELOR TOOL by clicking the button below or visiting https://findageneticcounselor.nsgc.org/. Select "Adult (Including Complex Disease)" and "Neurogenetic" for the types of specialization. To view the contact information for the genetic counselors, click "More Info" and look under "Contact Me" or "Email Me." You can also ask one of your current healthcare providers such as your primary care provider or neurologist for a genetics referral.