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  • Writer's picturePenn FTD Center

The Predictive Genetic Counseling Experience

During our Familial FTD/ALS Conference in 2021, we were joined by two individuals, Daniel and Diana, who shared their experiences with predictive genetic testing. While neither Daniel nor Diana had symptoms, both had known genetic forms of FTD and/or ALS in their families and sought testing to understand their own risk of disease. Predictive genetic testing is available in such cases to look for an inherited gene mutation in asymptomatic individuals.   


Neither person was aware that neurodegenerative diseases ran in their family until their parent was diagnosed. Despite having multiple family members with neurodegenerative diseases, Daniel said that doctors had not given any indication that they might be linked until he learned of his father’s genetic status (positive for a C9orf72 repeat expansion) after his death. Diana was similarly unaware before her mother’s diagnosis (positive for a GRN mutation), citing a stigma around mental health for the lack of discussion in her family.   


Despite learning that his father’s status put him at familial risk, it didn’t really sink in for Daniel. On the other hand, Diana described her experience as being caught in a tidal wave. She was in shock after learning of her mother’s genetic status, experiencing a total role-reversal as she took over care for her mother, and felt as if new uncertainties kept arising.  


Both Daniel and Diana wanted to learn their status, both noting that family planning played a role. Diana also started experiencing panic, wondering if small things like forgetting a word were innocuous or the beginning signs of disease and wanted to ease her uncertainty. However, Diana knew she had work to do in therapy before she was ready to learn this information. In fact, not everyone chooses to find out; Diana’s sibling has chosen not to find out their status for now.  


Before testing, Diana sought support from a genetic counselor, friends, and family. She planned to eat a pint of mint chocolate chip ice cream, her favorite, on the day she found out her results, regardless of how they came back. She found comfort in having this decision within her control in the midst of the uncertainty. Diana learned that she was negative for the mutation in her family. She had a fantasy that the result would change her life, but realized that she was, “still the same old me.”    


Daniel learned that he tested positive for the family mutation, but feels that his life has changed dramatically in positive way. After learning he may not live as long as he thought, he got more involved in advocacy and awareness for familial ALS, quit a job that he wasn’t passionate about, and started a position at a company working to develop ALS therapeutics. Daniel felt a void of resources after his diagnosis and is dedicating his time to try to affect change for those navigating the ALS world both now and in the future.   


Diana described her meeting with a genetic counselor as a true blessing in her life, where she was able to get information at the level she needed. Daniel is grateful that, unlike in generations before, he had the option to get genetic testing. Previously, individuals were blindsided by disease, and unable to plan for the future, but this knowledge gave him the ability to truly capitalize on the time he has.   



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