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The significance of FTD genetic confirmation and the considerations needed before knowing your genetic status

Genetic Counsellor, Laynie Dratch, ScM, CGC, from the Penn FTD Center in the US, shares her expertise on frontotemporal dementia (FTD), with a focus on the diagnostic journey and significance of genetic confirmation. Up to 40% of people with FTD have a family history of the disease. Laynie discusses the considerations for individuals and families before deciding whether to undergo genetic testing for FTD and the benefits of genetic counselling. 
Laynie Dratch
Getting a diagnosis: “FTD symptoms can be variable, and they do not sound like a dementia spectrum disorder necessarily.”

According to Laynie, the diagnostic journey for people affected by FTD can vary greatly from person to person. For some families it can be years of misdiagnosis or not knowing what is really going on. “Just finding your way to a neurologist can be hard, with many individuals misdiagnosed with a psychiatric disorder at first,” Laynie explains. “For families with a history of FTD, it can be a quicker journey, as they have prior experience and may be able to identify and connect symptoms to the disease faster.”

The significance of genetic confirmation: “opportunity brings hope.”

Genetic testing can help families understand an individual’s symptoms and reduce feelings of guilt or blame for the individual with FTD, and for their families: “Knowing it was not something they did in their lifetime to cause the disease can help some people,” Laynie explains. Genetic testing can also help professionals understand the genetic underpinnings of the condition. With FTD, there is an overlap with some of the genes that are known to cause FTD with other diseases, for example, amyotrophic lateral sclerosis (ALS), Parkinson’s disease (PD), or psychiatric symptoms.

A clinical diagnosis can be made from the symptoms that a neurologist can observe, but genetic testing seeks to understand why that diagnosis has occurred and can be a tool to help neurologists clarify the diagnosis.

Laynie Dratch

Depending on which gene is found to be the cause of the FTD, individuals and families can be made aware of how the disease typically progresses, which can help them anticipate medical needs.

Laynie also highlights the potential value of genetic testing for other family members. Once an individual has genetic confirmation of FTD, and the genetic variant (or “mutation”) responsible for the FTD is identified, family members can be notified of their risk level and, as a result, seek testing themselves. This is called predictive genetic testing, when a person without symptoms has genetic testing to better understand their risk status. “Predictive testing is a much quicker and more informative process when there is a known genetic variant identified as the cause of FTD in the family,” Laynie explains. 

With several gene therapy trials ongoing for FTD and more in the pipeline, Laynie explains. “Although receiving a genetic result is not a guaranteed step into a genetic trial, or to receiving any medication under research, for some people opportunity brings hope.” It can also help people to “feel a sense of control and empowerment by contributing to potentially life-changing research”. 

Individuals and families have so much to consider in knowing their genetic status; it can be a really difficult decision and I wouldn’t suggest trying to make that decision alone.

Laynie Dratch

Laynie explains how, for a person diagnosed with FTD, deciding to pursue genetic testing is a combination of considering how this information may influence them and their family members’ lives. For example, people with FTD should consider if they are interested in research studies, if they are ready to consider changes to their medical care and life in general, and if family members want to be aware of this genetic information. For some people with FTD, simply wanting an answer to why disease has developed is motivation for testing.

Making sure individuals are at a place in their life where they can handle knowing the results of a genetic test is also important. Once you learn the information, you cannot unlearn it.

Laynie Dratch

However, “for individuals at risk of FTD, it can be very complicated from an insurance and genetic privacy and discrimination standpoint,” Laynie explains. According to Laynie, in the US, there are laws in place to protect people’s rights with genetic privacy: employers and health insurers cannot ask for, nor use, genetic information against you. There are some exceptions; for example, if you work for the military. However, long-term care, life insurance and disability insurance are not covered by these protections, meaning these organisations can request genetic information and either deny you coverage or charge you a high premium. Therefore, before someone goes ahead with genetic testing, “it is important to consider if they want to take out new insurance or additional coverage, as once policies are in place, they cannot be taken away,” Laynie explains.

“There are two main ways to go about getting genetic testing: clinically or through research studies.”

Laynie explains that if an individual is clinically tested, it becomes part of their medical chart, and the cost is often covered through insurance. The other option is to go through a research study. According to Laynie, there are pros and cons for this: “It is paid for by the study rather than insurance and becomes part of an individual’s research record. Also, with it being anonymous, it has different implications for genetic privacy. However, if family members want further testing, they often need a named report.” Laynie cautions that genetic testing can differ among research studies and it is important to ask questions about the genetic testing process before joining a study. Questions may include whether results will be returned through the study, and whether testing is being performed in a regulated laboratory.

While insurance often covers all or some of the cost of genetic testing, there are also multiple industry-sponsored programs that support access to genetic testing for FTD and other neurodegenerative conditions. This includes programs that cover the cost of testing ordered for you by your genetics provider, in exchange for the sharing of de-identified data. Some programs offer genetic counselling as well. 

For more information and resources on industry-sponsored FTD genetic testing programs, visit the FTD Disorders Registry.

There are so many benefits of having genetic counselling before and after genetic testing; I can’t recommend it enough

Laynie Dratch

Before genetic testing, a genetic counsellor can support individuals by: 

  • ensuring the correct genetic testing is being ordered through an analysis of the family and medical history 
  • helping facilitate decision making on testing, helping the person determine whether it is the right time for them to learn this information, and serving as a general source of support and information 
  • helping to discuss insurance needs and other resource considerations
  • discussing how to share the information with family

Afterwards, genetic counsellors can help individuals and families to:

  • review genetic testing results together and ensure results are being interpreted correctly 
  • get connected to the right resources, whether that’s research, support groups, or other providers 
  • talk to someone who understands, and receive important social support

I think everyone interested in genetic testing for FTD should speak to a genetic counsellor. You can ask your neurologist to refer you to one near you or find one through the NSGC.

Laynie Dratch
Laynie’s final advice for individuals who believe FTD may be inherited in their family…

Finding the right support and getting connected with the right team of people is so important. It is paramount that every FTD family feels comfortable and trusting of their care providers. I want to emphasise that genetic counselling does not equal genetic testing. You can speak to a genetic counsellor even if you know you don’t want genetic testing. They can simply be there to answer any of your questions; they are not there to encourage you to do anything other than what you feel is best for you. And finally, just remember, you do not and should not have to go through the journey alone.

Laynie Dratch

Prevail Therapeutics, a wholly owned subsidiary of Eli Lilly and Company, is dedicated to developing gene therapy-based treatments with the potential to slow or stop the progression of neurodegenerative conditions such as frontotemporal dementia, Gaucher disease, and genetic forms of Parkinson’s disease. To learn more about Prevail, visit their website.

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