People at risk, or potentially at risk, of developing FTD from a genetic mutation shared their perspectives on the potential effects the results of predictive biomarker testing would have on their lives in a recent study from the Netherlands.

Co-author Eline Bunnik, PhD, received an AFTD Well-Being in FTD Pilot Grant in 2023.

Test Results Would Guide Decisions on Clinical Trial Participation and Care Planning, Study Cohort Says

While knowing if you carry a specific gene mutation can provide insight into one’s risk of developing FTD later in life, genetic testing results cannot predict when FTD will start. However, as biomarker research progresses, the hope is that FTD-related processes can be detected earlier and earlier. Therefore, biomarker use in clinical studies may identify the occurrence of FTD-related, or non-specific but possibly-related, biological processes, onset of FTD symptoms. Predictive biomarkers specific to FTD are an active area of ongoing research, but it is important to consider the potential impact that biomarker test results could have on people’s lives.

The cohort interviewed by Dr. Bunnik and colleagues for the Dutch study included both people who have received genetic testing and have a known risk of developing FTD, and people who may have a genetic risk but have not yet received genetic testing. Overall, the cohort indicated the information provided by test results would be of benefit to them.

“It seems enormously valuable to me if you [could] know in advance: you are going to become ill over the next few years,” a woman carrying a gene mutation associated with FTD told the researchers. According to the study, most people at risk of carrying an FTD gene or who were already carriers were “willing, even eager” to participate in predictive biomarker testing, with only some participants uncertain if they would undergo testing.

Participants shared various ways that positive test results would be beneficial to them, such as enabling a plan to retire gradually before symptoms start, or as a motivator to fulfill more life goals and spend more time with loved ones. Long-term care planning was noted as a priority if positive results were received; many participants had previously cared for a family member with FTD, and wanted to reduce the impact on their family by acting early. Participants also said that positive results before symptoms would give them time to set up advance care directives.

Participants Highlight Potential Adverse Impacts of Test Results

Study participants also highlighted a variety of disadvantages of receiving results indicative of FTD development, particularly the anticipated psychological burden. Cohort members listed several emotions they might feel, from shock and panic to depression and resignation. Most participants believed they could cope with the knowledge, but underscored the stress that repeated tests would have on themselves and their loved ones.

“[You think]: oh, well, we have the test again this year.  [That causes] tension,” a man at risk of inheriting an FTD gene told researchers. “With some people, it gets in their system, perhaps not me, but I think with [my partner] it will, unconsciously, like ‘fingers crossed, let’s hope that [the result is normal].’”

Self-image was also noted as an adverse impact, with some participants worried that results might change how they view themselves and how others see them. Positive results would also create uncertainty: about how fast the disorder would progress and the nature of the symptoms that would develop, because predictive biomarker tests can only reveal an expected onset time. Others were worried about the impact on their personal affairs; for example, one participant told the authors she wanted to wait for predictive testing until she had settled her mortgage, worried about the potential impact a positive result may have.

Most participants were still willing to undergo testing, as the benefits outweighed their shared drawbacks.

People at 50% Risk Recruited for Study Interview

To get the clearest picture of the potential benefits of predictive biomarker tests, the authors turned to two groups of people: people at 50% risk of inheriting an FTD-causing gene mutation, and people who are confirmed to already have a mutation. People with a family history of genetic FTD on at least one side of the family are at a 50% risk of inheriting the gene from the affected parent.

The participants were recruited from the Department of Clinical Genetics and the long-term FTD-RisC study at Erasmus University Medical Center in Rotterdam. Study cohort members were interviewed by the lead author of the study, and the transcripts from the interviews were analyzed to identify themes.

Learn More About the Genetics of FTD

Roughly 40% of FTD cases are associated with a family history of FTD or other dementias, with a subset of these cases being linked to a known FTD-causing genetic mutation. Genetic testing can help families identify any potential risk genes they may be facing, but AFTD strongly recommends genetic counseling as a first step to evaluate potential risks and benefits.

If you have questions or concerns about genetic FTD, reach out to AFTD’s HelpLine. You can contact the HelpLine at 1-866-507-7222 or info@theaftd.org.