Multiple studies since 2009 have identified that 40 percent or more of FTD cases are known as familial. These cases can reflect a family history of dementia, a major psychiatric condition, or progressive challenges in movement or muscle weakness. A subset of familial FTD cases are genetic, or hereditary, in nature.

Researchers have identified variants in three main genes, as well as other very rare variants, that are associated with FTD. Clinical genetic testing is available to identify these known FTD genes. Undergoing diagnostic or predictive genetic testing is a personal decision that can greatly impact the trajectory of a person’s life. There are also many new and emerging clinical trials investigating potential therapies for people with specific genetic variants associated with FTD. Understanding your genetic status is one factor that will help determine whether these research studies are an option for you or your family members. Whether you have a personal or family history of FTD, AFTD strongly recommends that you consider genetic counseling as a first step to answering questions about your genetic status.

A genetic counselor can help you consider the ramifications of genetic testing, as well as ways to discuss testing and privacy concerns with family members.

“Testing for FTD is a personal decision. It’s something that people should take the time to consider,” Tara A. Jones, MS, LCGC, a neurology genetic counselor at Cedars-Sinai Medical Center in Los Angeles, told AFTD. “When I meet with individuals, I ask them how they would feel about a positive or negative result, and how their life is going to change based on these results. I make sure that they have informed family members that they’re getting tested, and if they haven’t, and don’t plan on discussing with family, we talk through why and how they’re going to feel about knowing their results and not sharing that with family members.”

Once the genetic counselor understands an individual’s goals for the consultation, they will collect information about personal and family history of FTD and related conditions. Talking to family members in advance will help you to gain as much information as possible about your family’s health history.

For Tracy D., whose father was recently diagnosed with FTD, it was important for her to know her genetic status after learning about her family’s extensive history of dementia and ALS. “When my dad was first diagnosed, I remember talking to my brother and we were like, ‘No, we’re not going to get tested, why would we?’ We thought that if we got tested and it says that we have some gene that carries it, we’re just going to be nervous and anxious for the rest of our lives until we get dementia,” Tracy shared.

Tracy’s cousin, who has been diagnosed with ALS, underwent genetic testing and learned that she was a carrier of a variant in the C9orf72 gene, the most common gene associated with hereditary FTD and ALS.

“Once we found out that if we had the gene mutation, we could either get ALS and/or FTD, I thought it would be good for me to know my status. If anything, I can plan what’s going to happen,” she said. “Based on my own experience, I suggest that anyone that has FTD in their family get tested.”

Visit the new “FTD Genetics” section of the AFTD website to learn more about:

• Genetic counseling
• Considerations regarding genetic testing and what to expect during the testing process
• Understanding genetic testing results
• Availability of no-cost testing options