A viewpoint article published in the medical journal Neurology argues that genetic counseling and testing should be offered to everyone diagnosed with FTD, underscoring the increasing number of trials for gene-based therapies.  

Co-authors of the article include AFTD Manager of Genetic Initiatives Kim Jenny, MS, LCGC; Board member Jill S. Goldman, MS, MPhil, CGC; and Medical Advisory Council member Jamie Fong, MS, CGC. The article’s lead author, Laynie Dratch, SCM, CGC, of the University of Pennsylvania, led a session on navigating familial FTD at the 2022 AFTD Education Conference. 

The Rationale for Universal Genetic Testing in FTD 

Despite the shared biology of FTD and ALS, recommendations for genetic counseling and testing only exist for the latter. The authors propose a similar approach for FTD. “Anyone with FTD, regardless of family history, should be offered genetic counseling and testing,” they write.   

Roughly 20% of people diagnosed with FTD have an underlying genetic cause; most cases are caused by pathogenic variants in one of three genes, with many other less-common genetic causes also known. Approximately 40% of people diagnosed with FTD have a family history of one or more blood relatives diagnosed with FTD or a related condition like ALS, which indicates a greater likelihood of having an underlying genetic cause. However, as the authors emphasize, genetic causes are also identified in a portion of people diagnosed with “sporadic” FTD, in which no family history exists.

For example, approximately 10% of people with an apparently sporadic form of FTD have an indefinable C9orf72 expansion. Identifying an FTD-causing gene variant can aid in earlier, more accurate diagnosis, which the authors link to a number of benefits. An earlier diagnosis can facilitate clinical trial participation closer to the beginning of disease progression, when interventions for FTD will be more effective. And, while no current treatments for FTD have yet been approved, future treatments will likely also be more effective when used earlier, the authors note. Additionally, families can get gene-specific information and resources, such as what FTD disorders it is associated with, which can help with charting a care plan and assembling a care team.  

Proper Implementation Requires Considering the Impact of Test Results 

The authors acknowledge that their recommendation may bring challenges to families on the FTD journey. Pretest education is essential for anybody considering genetic testing, as it can impact health insurance, employment, and long-term care. In the United States, there are notable gaps in laws regarding genetic non-discrimination.  

AFTD strongly recommends genetic counseling as a first step before considering genetic testing. Genetic counselors can assess a person’s family history and variables to help them understand testing’s potential benefits and risks. Counseling can also help people navigate the stress and anxiety that comes with genetic uncertainty and positive or uncertain results.  

But not all people can easily find a genetic counselor. Genetic testing is similarly not universally accessible, and despite becoming less expensive over the last decade, costs may still be an obstacle to some.

AFTD Resources for Genetic FTD 

When someone is diagnosed with FTD, relatives may worry about their own risk of developing the disease. AFTD’s website has a section dedicated to the genetics of FTD and things families should consider when navigating genetic uncertainty. AFTD handouts and other information are available to read or download on the Resources and References page. 

Do you have questions or concerns about genetic FTD? AFTD’s HelpLine can connect you with resources and answer any questions you have; contact the HelpLine at 1-866-507-7222 or info@theaftd.org.