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The genetic testing dilemma – understanding inheritance risk and what that means for individual family members

If you had the chance to find out what your future might look like, would you take it? Genetic testing can provide a glimpse into the future of your and your family’s health and can make sense of historical family illness.

 Genetic testing—sometimes called genomic testing—finds changes in genes that can cause health problems. It’s mainly used to diagnose rare and inherited health conditions and some cancers. It doesn’t always give a definitive diagnosis but can sometimes indicate a person’s likelihood of developing a particular disease.”

Deciding on whether to get a genetic test is a very personal decision; it can be fraught with guilt and fear but can also be a vital step to early diagnosis and treatment.

Genetic testing

RARE Revolution Magazine’s Daisy Marriott spoke with Wanda, a passionate advocate for people living with frontotemporal dementia (FTD), who has witnessed the positive and negative effects of genetic testing, how it can impact family dynamics and be a driving force for advocacy and research advancement.

A family’s journey to diagnosis
Genetic testing

Wanda’s mother began experiencing symptoms that were noticed by her work colleagues. She would walk into work rather than drive her car and was losing weight which was a result of her forgetting to eat. Wanda’s mother received her diagnosis of Alzheimer’s disease in 1982, at a time when research into this neurological condition was just emerging. Wanda recalls the appointment being a difficult experience for her mother. Little was known about the condition and her mother was told that the prognosis was bleak and what lay ahead would be long and painful. This is the moment Wanda decided to dedicate herself to advocating for her mother and others. “I got very, very busy. I got to know Dr Katzman. [In 1976 Alzheimer’s disease was first identified as the most common cause of dementia by neurologist Robert Katzman.] When my mum died, we did an autopsy and he said, ‘This just doesn’t look like regular Alzheimer’s to me.’” Dr Katzman urged Wanda to find other family members who had similar symptoms and ask if they would be willing to have autopsies after death. “Fast forward to 2006 and the samples from family members who were healthy and not healthy meant doctors were able to identify a commonality in a tiny protein called progranulin.”

Progranulin is identified as one of the proteins that causes frontotemporal dementia(FTD). This form of FTD is caused by mutations in the GRN gene (also known as FTD-GRN) and is considered one of the most aggressive and rapidly progressive forms of FTD. 

The decision to get tested
Genetic testing

Wanda describes family genetic testing like “letting a genie out of a bottle”. It is not a decision to be taken lightly and it must be right for each person. Within Wanda’s own family some have made the decision to be tested while others have decided not to yet. The result can stir up emotions and lead to a significant amount of information to digest. It can be followed by uncertainty and fear, about the lost freedoms and independence that a future diagnosis would bring; or by relief. Wanda explained that one family member spent his whole life planning financially for his family as he saw symptoms in himself that would point to his having FTD, only to find out that he didn’t when he got his results. 

The family’s awareness of familial risk, along with the option of genetic testing in the future, empowers them in making decisions. Wanda has personally chosen not to be tested yet. She feels her efforts are best spent focusing on what she can do for the community. “I just think I’m a stronger advocate at this point. I can focus my life on helping get the word out and helping encourage others.” Wanda encourages families who are seeing symptoms in loved ones to research genetic testing options early on. Wanda says:

I do know that the research is looking for younger families earlier in the disease process. Because the hope is that if you can have an intervention or a treatment, before you have symptoms, then you’re less likely to ever have any of the neurological problems. 

Next steps after a confirmed diagnosis

Having a genetic diagnosis of FTD in the family sparked Wanda’s passion for advocacy. “It turbocharged me into thinking ‘What can I do?’ and ‘What should I do to help my family?’ My desire was to learn as much as I could. I began to go to international conferences. I met many of the researchers who were interested in the rare genetic dementias, and I realised they were small in number but so committed to families. I became involved in a project which became the ALLFTD [ARTFL–LEFFTDS Longitudinal Frontotemporal Lobar Degeneration research consortium]. It’s a programme that is very interested in personalised treatment.” Wanda explained that it is important to not lose hope after getting a diagnosis: “For most of my life, there was no hope. Now we’re in a season where there is really hope—not just on the horizon but here.” 

A gap in information and awareness

Wanda feels that when it comes to genetic testing and FTD, healthcare professionals don’t have enough information and awareness. “There isn’t enough information about genetic testing for dementias yet, and not enough genetic counsellors understand the consequences for families.” Wanda feels it is left to individuals to find out about genetic testing. There can also be barriers where medical insurance doesn’t cover testing. “Some people in my support group have paid to have genetic testing carried out so they can have answers.” 

Wanda also believes that the language being used to talk about dementias can inhibit families’ understanding—the terminology needs to be streamlined. She hopes that “as a community we can become more in tune with language that really describes how dementias are different.” 

(To learn more about genetic testing considerations, including genetic counselling and free, industry-sponsored genetic testing programs, be sure to read our “Significance of FTD Genetic Confirmation” article here. )

Dementias are different and The Association for Frontotemporal Degeneration has been the leader in helping families understand the differences and funding research efforts to solve the underlying causes.

Advice for families
Genetic testing

Wanda’s advice for families is to advocate and get involved. She feels passionately that being involved in observational research gives people “a front row seat” and is key for the future of FTD treatments and awareness. “Being involved in these [FTD] research programmes means families can interact with dedicated scientists—keeping up to date on the latest findings and providing valuable information to these core scientists to help drive further research, interest from pharma and future treatments.”

Scientific Perspective: Rodney Pearlman, PhD, President of The Bluefield Project to Cure Frontotemporal Dementia

The Bluefield Project to Cure FTD is a research foundation, focused on finding a treatment for FTD primarily due to mutations in the progranulin (GRN) gene. As such, Bluefield funds a number of researchers and clinicians in the field. Bluefield is interested in identifying individuals who carry mutations in the progranulin gene to support exciting clinical research that is currently underway. What has changed dramatically recently is that investigational therapies are entering clinical trials specifically targeting genetic forms of FTD, and their sponsor companies are often providing genetic screening for risk factor genes.

Consequently, knowing one’s genetic status in an “at risk” family and enrolling in an observational study (natural history study) could provide information on the progression of the disease, and also provide the individual with the latest information and, potentially, access to clinical trials.

Rodney Pearlman

For example, Bluefield, along with thirteen companies and foundations, is currently managing an observational trial ( in families with genetic mutations in FTD, measuring a protein called NfL (neurofilament light chain) to follow levels of this biomarker over time. NfL levels appear to increase prior to symptom onset, and consequently, may guide treatment approaches, or be a measure of treatment effectiveness.

If you would like to find out more about ‘The Bluefield Project to Cure Frontotemporal Dementia’ please click the logo and the button:

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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