A patient with FTD was referred for genetic counseling. What can we expect in the genetic counseling visit?
A genetic counselor is a health care professional trained in both medical genetics and psychosocial counseling. During a genetic counseling visit, you can expect the genetic counselor to collect a family history, evaluate the likelihood that the FTD in the family could be genetic, and explain what this means for the person diagnosed and for the family. The genetic counselor can help you understand your genetic testing options, what the possible results are and what their implications would be and facilitate the logistics of testing. Genetic counselors may explore your experience with FTD in the family, assess your support system, and get you connected with any resources that may be helpful.
If a person already has a diagnosis of suspected FTD, what is the point of genetic testing?
When a person who has symptoms of FTD undergoes genetic testing to determine if there is a genetic cause for their condition, this is called diagnostic genetic testing. The decision to have genetic testing is incredibly personal, and genetic testing will never be required (it is always optional). Whenever a family is interested in genetic testing for FTD, it is best to start with a person who has been diagnosed with the condition. There are several potential benefits to being tested. First, there are several ongoing clinical trials for FTD that are gene-specific. Learning your genetic results is the first step towards joining a gene-targeted clinical trial. Even if there are no ongoing trials or treatments for a specific genetic form of FTD, some people find it meaningful to join observational research studies that will track their natural history over time to help researchers understand more about that variant. Second, if a genetic cause is found, it can help you understand why you’ve developed FTD, which can bring a sense of comfort and relief. This can also clarify the diagnosis and prevent the need for additional procedures or tests that can be costly or invasive. Thirdly, a genetic diagnosis can tell us information about what to expect, such as whether there is risk of other symptoms developing (like ALS or Parkinson’s disease), and if there is anything known about the typical rate of progression for that variant. Finally, a genetic diagnosis can provide family members with information about their level of risk, and they can each decide whether they want to learn more or not. Predictive genetic testing (when a person without symptoms undergoes genetic testing to learn if they inherited risk for the condition) is a highly personal choice with emotional, legal, and other considerations that should be explored with a genetic counselor before a person completes testing.
How often is FTD due to a genetic cause?
Most people with FTD do not have a single genetic cause that can be found to explain why they developed FTD. A genetic cause is more likely to be found when that person has a family history of FTD or other neurologic conditions like ALS or Parkinson disease. When a person with FTD has family history of FTD or related neurologic conditions, we can find a genetic cause about 60-75% of the time. When a person does not have family history of FTD or related conditions, which is the case for most people with FTD, we can find a genetic cause about 5-10% of the time. Family history is an important tool to help us predict the likelihood that a person’s FTD could be genetic, but it is not perfect; sometimes, people have a small family, relatives have died young of other causes, relatives are estranged or do not communicate about their health, or relatives may not have gotten accurate diagnoses for their symptoms. Because we can find a genetic cause even when there is no known family history, we offer genetic testing to all people diagnosed with FTD.
What does genetic testing actually involve?
Genetic testing can be performed on a cheek swab sample. This can be collected during an in person visit, or mailed to your home if you meet with the genetic counselor by video visit. In some cases, blood might be required for testing. The time it takes for a person to get results back from testing can vary based on what testing is being ordered. For many tests, you can expect to get results in 4-6 weeks. Broader tests might take 3-4 months. The cost of testing is often covered either all or in part by insurance. Some laboratories offer a reasonable self-pay option if insurance does not cover the testing. Sometimes, no-cost genetic testing may be available via “sponsored testing” programs.
How can we get connected with a genetic counselor?
There are several ways to get connected with a genetic counselor:
1.Ask your physician for a referral to a genetic counselor
2.Use the “Find a Genetic Counselor” tool from the National Society of Genetic Counselors here.
3.Consider joining a research study that may have genetic counseling available. To look for current research studies click here.
What are some resources that I can use to learn more?
1.The Penn FTD Center hosts an annual Familial FTD/ALS Conference – the next iteration of this event will be in February 2025, details coming soon! You can view recordings from previous years here.
2.The Association for Frontotemporal Degeneration (AFTD) has information on FTD genetics, genetic counseling, and genetic testing and they partner with the FTD Disorders Registry for research opportunities here.
3.There is an advocacy group focused on those at genetic risk for ALS/FTD called End the Legacy here.
~ Laynie Dratch, Licensed, Certified Genetic Counselor
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