The Genetic Testing Process

In some cases, the person seeking genetic counseling is not the best person to undergo testing. The genetic counselor may recommend testing a different family member first -- usually someone with symptoms. A negative result in a person without symptoms is not informative; we cannot know if the person truly has no genetic risk, or if the test simply did not include the causative gene in the family.

The risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. While most people adapt to their genetic test results, some may experience  feelings of anger, depression, increased anxiety, or guilt. They may also make it challenging to get life insurance, long-term care, or long-term disability insurance if you don’t already have these policies.

Genetic testing can provide valuable information, but it has limitations. While scientists have identified several genes associated with FTD, there are likely other genes yet to be discovered. If a person with symptoms and a clinical diagnosis of FTD tests negative for an FTD-associated gene variant, they may very well have sporadic FTD (meaning not inherited) -- or the genetic test may not have included the causative gene.

Additionally, genetic testing sometimes identifies a variant that has not been observed before. If there is no information about the variant, scientists cannot determine if it causes FTD or is harmless. Such variants are classified as Variants of Uncertain Significance (VUS), and often require additional follow-up to determine if they cause FTD.

Finally, genetic test results cannot determine:

• If a person will absolutely develop symptoms of FTD
• When symptoms will start
• What type of symptoms will develop first
• Disease severity
• Rate of disease progression

Regardless of the results, genetic testing has several potential benefits. Test results can provide a sense of relief from uncertainty. They can help people make informed decisions about health care, finances, family planning, and other key life decisions. Sometimes testing may open the door to new therapies under investigation or other research that contributes to our growing understanding of FTD. Experimental treatments are being developed for people with variants in specific genes; people with genetic forms of FTD are needed as participants in clinical trials.

The decision to pursue genetic testing for FTD is very personal. Some reasons and considerations include: 

• Confirm an FTD diagnosis 
• Open the Opportunity to Participate in Clinical Trials
• Family Considerations 
• Readiness for Testing 
• Cost of Testing 
• Family Planning
• Financial planning (including cost of potential future care)
• Privacy Considerations 
• Life, Disability, and Long-Term Care Insurance Considerations 
• Clarify Your Familial Risk 

Please visit the Why Learn My Genetic Status? webpage for more information.