Your Guide to Considering Presymptomatic Genetic Testing for Frontotemporal Degeneration (FTD)

If a close biological relative has been diagnosed with frontotemporal degeneration (FTD) with a known genetic cause, you may have wondered about your own risk and whether genetic testing is right for you. About 15-20% of FTD cases have an identifiable genetic mutation, and these mutations are inherited in an autosomal dominant pattern. This means that each biological child or sibling of an affected person has a 50% chance of inheriting the mutation.

Choosing to undergo presymptomatic genetic testing is a highly personal decision. There is no right or wrong choice, and your feelings about testing may differ from those of your family members and even change over time. Understanding the process, potential benefits, and risks can help you make an informed decision that aligns with your personal and emotional needs.

What Does the Genetic Testing Process Involve?

1. Genetic Counseling: Before testing, you will typically meet with a genetic counselor, a healthcare professional who specializes in genetics. They will explain your individual risk, discuss the possible benefits and challenges of knowing your genetic status, and help you explore the psychological and social implications of testing. While genetic counselors do not make the decision for you, they can guide you in weighing your options.  It is important to know that there is no pressure to have testing just because you have spoken to a genetic counselor.  Genetic counselors are there to help you think through your decision-making, not convince you to proceed with testing.  
2. The Genetic Test Itself: If you decide to have testing, the test is usually done through a simple blood draw or saliva sample. Your DNA is then analyzed in a laboratory to detect the presence of the specific genetic mutation known in your family.
3. Results Disclosure: Test results are generally shared by a genetic counselor or another healthcare provider. This visit provides an opportunity to discuss the implications of your results, whether positive or negative, and receive emotional support as well as resources for next steps.

Key Considerations When Thinking About Genetic Testing

Presymptomatic testing can have far-reaching impacts on different aspects of life. Before making a decision, it may be helpful to consider how knowing your genetic status—whether positive or negative—could influence:

• Family planning decisions
• Career and financial planning
• Eligibility for clinical trials or future treatments
• Emotional well-being and anxiety related to uncertainty
• A sense of control over your future
• Family relationships and dynamics

What You Need to Know About Privacy and Genetic Discrimination

Several laws protect individuals from genetic discrimination, but there are important exceptions to be aware of:

• The Genetic Information Non-Discrimination Act (GINA) prevents health insurance companies and employers (with 15 or more employees) from using genetic information against you.
• The Health Insurance Portability and Accountability Act (HIPAA) ensures privacy protection for your genetic information in healthcare settings.
• However, GINA does NOT protect against discrimination by life insurance, long-term care insurance, or disability insurance providers. Federal employees, military personnel, and those covered under certain government health plans (such as Tricare) also have limited protections.

Because of these gaps in protection, individuals considering genetic testing may want to review their insurance options before proceeding with testing.

What About Genetic Testing in Research Studies?

If you undergo genetic testing as part of a research study, the rules around disclosure can be complex. Some research labs are not certified to return clinical results, meaning participants do not receive their individual genetic results. However, if a research study is certified to return individual clinical results, they may impact your insurability.  

Regardless of how you receive your genetic information, you are legally required to disclose your genetic status truthfully, if asked, on insurance applications. Failure to do so could result in the denial of a claim.

Conclusion

Presymptomatic genetic testing for FTD can be a powerful tool for future planning, but it also comes with emotional, psychological, and financial considerations. Genetic counseling and a strong support system can help navigate this complex decision.

Ultimately, the choice to undergo genetic testing is deeply personal. For those who choose to learn their genetic status, the insights gained can help guide important life decisions and provide a clearer path forward. If you are considering testing, take the time to explore your options, seek support, and make the choice that feels right for you.