Why Learn My Genetic Status?

FTD is difficult to diagnose and frequently misdiagnosed. Genetic testing, along with an evaluation of clinical symptoms, brain imaging, and other assessments, can confirm FTD is the correct diagnosis. An accurate diagnosis will help you understand what to expect, access services, and potentially qualify for clinical trials focused on a specific gene.

Clinical trials are necessary to develop new therapies for FTD to help future generations live a life free from FTD. Clinical trials will not succeed without enough participants. 

Researchers are developing treatments that target specific FTD-causing genes. People with variants in specific genes are uniquely eligible for many of the clinical trials currently underway. The ultimate goal is that once a gene-specific treatment is successful, treatments for all forms of FTD (genetic and apparently sporadic) will soon follow. While it’s important to carefully assess the benefits and potential drawbacks of learning your genetic status, knowing your status can help you take charge of your FTD journey, making a difference that could potentially benefit you, your family members, and future generations. 

Click here to see studies that are recruiting people with FTD caused by specific genes.

Click here to learn more about gene therapy and FTD.

Unlike most other medical tests, genetic tests can reveal information not only about the person being tested but also their relatives. Family members may have different opinions about learning if there is a genetic cause in the family. Family discussions can be complicated if some family members choose to learn their genetic status while others do not. Family relationships can be strained if a person discloses genetic test results that have implications for other relatives. Speaking to a genetic counselor can help you consider and navigate these and similar situations.

For some people, deciding whether to undergo genetic testing can be challenging. Ultimately, it is a personal decision. Talking with a genetic counselor can clarify if testing is the right choice for you. Your genetic counselor should be a trusted resource for the most accurate and current information to help you through the decision-making process. Importantly, you are never obligated to proceed with genetic testing. 

People who are not ready to get tested may want to consider DNA banking, which preserves a DNA sample for future testing. DNA banking can let future generations know their genetic risk, even if the affected relative would rather not know their own results. 

Some people may have FTD in their family and be at genetic risk for it but decide not to learn their own genetic status. In these situations, there are family planning strategies for couples to have children without a genetic risk for FTD. A genetic counselor can help you navigate the possible options. See the family planning section for more information. 

The cost of genetic testing can vary widely. In some cases, testing will be covered by your insurance company, and you will only be responsible for your co-pay, co-insurance, or deductible. If you choose to pay out of pocket for testing, some labs offer financial assistance or reduced fees. 

No-cost genetic testing may be available through research studies such as the ALLFTD study, or through testing programs sponsored by pharmaceutical companies. Click here to read more about no-cost genetic testing options. 

Individuals who are concerned about the risk to their future children have several reproductive options: 

• Prenatal testing. The fetus can be tested for the known genetic variant in the family as early as 10 weeks, using chorionic villus sampling. 
• Preimplantation genetic diagnosis (PGD). This involves the couple going through in vitro fertilization (IVF), in which a woman’s eggs are extracted and fertilized by a partner’s sperm. Genetic testing is then performed on the embryos; only those embryos without the genetic variant are used for a pregnancy. For parents who choose not to know their own status, PGD may be possible without requiring the parent learn that information. 
• Sperm or egg donation. If the male partner carries a genetic variant for FTD, the couple may choose to conceive using a sperm donor. Conversely, if the female partner has an FTD-causing variant, the couple may choose to conceive using an egg donor. 
• Adoption. Those concerned about passing on a familial condition may consider adoption. 

Reproductive planning is a personal decision. However, genetic counselors can help couples explore options to help find the reproductive choice that is right for them. 

Many of the options described above require planning before becoming pregnant (pre-conception). If you are thinking about starting a family and have concerns about the risk to future children, we strongly encourage consultation with a genetic counselor. 

A genetic counselor will recommend you review your current financial situation. If test results are positive, meaning you are at risk of developing FTD in the future, it is important to plan for future medical needs and care options. A genetic counselor cannot offer financial advice. However, your counselor may advise you to seek professional guidance for options such as planning for earlier retirement, obtaining long-term care insurance, or saving for medical expenses and home care services.  

Some individuals with FTD have difficulties managing finances appropriately. Consideration should be given to appointing a trusted person to help with financial matters. 

Healthcare providers are required to protect the privacy of your health information under a law called HIPAA (the Health Insurance Portability and Accountability Act of 1996). This law prevents healthcare providers from sharing your health information with others without your permission, unless the information is being shared with another healthcare provider (or lab) as part of your care. 

A law in the United States called the Genetic Information Nondiscrimination Act (GINA) prevents employers and health insurance companies from using genetic information and family history to make coverage or cost decisions. GINA does not protect life insurance, disability insurance, or long-term care insurance. Providers of such policies are free to consider your family and genetic information when deciding whether to provide coverage for you. GINA also does not protect people who work for companies with fewer than 15 employees, individuals receiving military health benefits, and those receiving care through the Indian Health Service. 

A law in the United States called the Genetic Information Nondiscrimination Act (GINA) prevents employers and health insurance companies from using genetic information and family history to make coverage or cost decisions. GINA does not protect life insurance, disability insurance, or long-term care insurance. Providers of such policies are free to consider your family and genetic information when deciding whether to provide coverage for you. GINA also does not protect people who work for companies with fewer than 15 employees, individuals receiving military health benefits, and those receiving care through the Indian Health Service.

A genetic counselor can help answer questions about insurance coverage and privacy. You can also download this fact sheet on GINA to learn more. 

Genetic testing can help individuals learn if their family has a known FTD genetic variant.  

The results are more conclusive if the family member with symptoms of FTD is tested first. Once the genetic cause for their FTD is known, other relatives can decide to test for that specific genetic variant. If the person with FTD is unwilling or unable to be tested, family members without symptoms could still get tested for all the known genes associated with FTD, but the results may not be conclusive. 

A family history of FTD or related conditions is a strong indication of a genetic cause. However, a small number of people with no family history of FTD have an identifiable genetic cause, which could be passed on to the next generation. This can happen if: 

• The family history is limited or not well known 
• Previous conditions in the family were incorrectly diagnosed 
• Information about family relationships is inaccurate or incomplete 
• A relative passed away before symptoms developed or a diagnosis was made 
• The person with FTD is the first person in the family to have a genetic variant. This is known as a de novo  variant. Although not inherited, de novo  variants can still be passed to the next generation. Therefore, AFTD recommends that people diagnosed with FTD who have no family history consider genetic counseling 

All known forms of genetic FTD are inherited in an autosomal dominant fashion, meaning that each child (or sibling) of an affected person has a 50% chance of inheriting the FTD-causing genetic variant. (While the diagram above shows a couple with four children - two unaffected, two affected - it is important to note that each child is a new “event,” with an equal chance to inherit, or not inherit, the FTD-causing variant. In other words, every time a person with genetic FTD has a child, there is a 1 in 2 chance of passing along the FTD-causing variant to that child.) 

AFTD offer support groups specific to the needs of those at genetic risk:

• The Persons at Genetic Risk support group is for people asymptomatic who have undergone predictive testing and received a positive result. In this group, members typically discuss living with the knowledge of future risk, managing anxiety, and finding connections with others who understand their experience.
• The Familial FTD support group is for those who know FTD is genetic in their family, but they are either undecided about testing or have opted to not test. This group focuses more on the generational aspect of FTD, with the possibility of multiple relatives affected and needing care, while understanding there may also be a personal risk to develop FTD.

Contact the AFTD HelpLine to learn more.