The FTD genetic research landscape is evolving at an unprecedented pace. Although most FTD cases do not have a hereditary component, numerous clinical trials are now targeting gene-specific treatments, areas where researchers have developed stronger insights into potential therapeutic approaches. Understanding whether FTD has a genetic basis has become more crucial than ever—for those affected, their loved ones, scientific progress, and therapeutic development.

The National Society of Genetic Counselors (NSGC) FTD/ALS Working Group has issued a call for genetic counseling and testing to be made available to everyone receiving an FTD spectrum disorder diagnosis. Following thorough review, AFTD has revised its stance to support these updated recommendations: All people diagnosed with FTD should be offered genetic counseling and testing.

This marks a shift from previous guidance, which emphasized providing genetic counseling and optional testing primarily to those with familial FTD history. Evidence shows that as many as 10% of individuals diagnosed with genetic FTD lack any documented family history of FTD or associated conditions.^1,2

Developed  with support from the AFTD Medical Advisory Council this recommendation captures the collective perspective of experts who acknowledge the increasing significance of genetics in FTD management and investigation.

This recommendation pertains exclusively to those with confirmed FTD diagnoses, not to family members who may be at risk.

A comparable transition has already taken place throughout numerous ALS centers, where genetic testing is emerging as standard practice for everyone diagnosed with ALS. This evolution promotes fair access to prompt and precise diagnoses, clinical trial opportunities, and support resources. Applying this same framework to FTD creates alignment between both communities and advances the entire field.

The Significance of This Evolution

Broadening genetic counseling access and testing availability for all FTD-diagnosed individuals delivers multiple critical advantages for patients, families, and the scientific community.

Validates and defines diagnosis – Genetic testing can substantiate an FTD diagnosis, particularly valuable given the variable presentation of symptoms and their tendency to resemble other medical conditions. A definitive genetic finding enables clinicians to customize treatment approaches and project future care requirements.

Enhances clinical management – Understanding whether someone’s FTD has genetic origins helps medical providers predict specific symptoms, coordinate multidisciplinary treatment, and develop more personalized care strategies.

Facilitates future preparation – A genetic diagnosis enables families to make emotional, practical, and financial preparations for what lies ahead. It also opens pathways for family discussions about whether other relatives wish to explore their own potential predisposition.

Increases clinical trial participation – Numerous clinical trials concentrate on genetic origins because understanding gene function and malfunction provides therapeutic targets. Consequently, many trials need confirmed genetic diagnosis for enrollment. Wider testing availability means greater numbers of people will qualify for experimental treatments and studies designed to delay or halt FTD symptoms.

Accelerates treatment accessibility – Genetic counseling and testing require significant time. Following approval of a new treatment for a genetic variant of ALS, it became evident that certain individuals experienced delays in receiving care due to unknown genetic status. We aim to eliminate such obstacles to immediate care within our community.

Essential Information for Medical Professionals and Families

Genetic testing must always incorporate genetic counseling both before and following the test. A genetic counselor assists individuals and families in:

• Comprehending what testing reveals and its limitations
• Evaluating the emotional and practical consequences of results
• Reaching an informed choice about whether genetic testing is right for them
• Strategizing how to communicate information with family members

Individuals with FTD and their families can connect with genetic counselors through multiple channels:

• Request a referral from your neurologist to a neurogenetics or FTD specialist.
• Consult the AFTD Webinar How to Find a Genetic Counselor.
• Access theaftd.org for genetic counseling and family support materials.
• Consider telehealth genetic counseling, which provides connection to specialists.

For the majority of FTD-diagnosed individuals, a thorough FTD/ALS gene panel encompasses the primary genes recognized to cause inherited FTD, including C9orf72, GRN, and MAPT, along with others. Your medical provider or genetic counselor can identify the most suitable test, including no-cost genetic testing alternatives for eligible individuals.

Testing may occasionally generate complicated emotions or uncertainties. AFTD provides extensive resources to assist families in navigating these intricate and emotionally challenging conversations with compassion and understanding.

Moving Forward

AFTD will maintain its partnerships with researchers, medical professionals, and advocacy groups throughout the field to support the establishment of formal clinical guidelines for FTD genetic counseling and testing.

As we advance into a new phase of precision medicine, expanding genetic testing access guarantees that everyone diagnosed with FTD—independent of family history—can obtain accurate diagnoses, knowledgeable care, and access to potential future therapies.

References:

1. Greaves CV, Rohrer JD. An update on genetic frontotemporal dementia. J Neurol. 2019;266(8):2075-2086. doi:10.1007/s00415-019-09363-4
2. Ramos EM, Dokuru DR, Van Berlo V, et al. Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Alzheimer’s & Dementia. 2020;16(1):118-130. doi:10.1002/alz.12011