Imagine discovering you're part of a family carrying a genetic risk for frontotemporal dementia (FTD), a devastating condition that robs people of their personality and cognitive abilities long before it might otherwise strike. This isn't just a scary thought—it's a reality for many, and it begs the question: How can genetic counseling turn fear into empowerment? Buckle up, because a fascinating study presented at the National Society of Genetic Counselors (NSGC) conference is shedding light on this very issue, and it might change how we approach predictive genetic testing forever.
Diving deeper, this research uncovers how genetic counseling can profoundly empower those living with the uncertainty of FTD risk, underscoring the urgent need for standardized best practices in the field. Conducted on a small group of adults from families linked to FTD through specific gene variants, the study explored the positive effects of counseling on participants who hadn't yet been diagnosed. Despite its modest scope, the findings strongly suggest that establishing clear guidelines for predictive genetic testing is essential, especially as we edge closer to treatments that could alter the course of the disease.
Presented at the 44th NSGC Annual Conference in Seattle from November 6–10, this single-site observational study involved 14 unaffected individuals carrying a pathogenic variant in an FTD-related gene. Under the guidance of Laynie Dratch, a skilled genetic counselor at Penn Medicine in Philadelphia, the team aimed to assess shifts in emotional well-being and decision-making processes right after an initial counseling session.
To measure these changes, they relied on reliable tools: the Genomics Outcome Scale (GOS) for empowerment, the Generalized Anxiety Disorder-7 (GAD-7) for anxiety, and the Patient Health Questionnaire-9 (PHQ9) for depression. The participants spanned various ages, with a notable cluster in the 40-49 (six individuals, or about 43%) and 60-69 (another six, or 43%) ranges. Education-wise, the group was highly educated, with nine holding graduate degrees (64%) and two with bachelor's degrees (14%).
Before the study began, most participants expressed a desire to learn their predictive test results immediately—11 wanted disclosure right away, one preferred it later, one was undecided, and one opted out entirely. But here's where it gets intriguing: After that first counseling session, everyone's stance shifted toward wanting disclosure, with 10 opting for now and four preferring the future. It's like the counseling unlocked a newfound clarity and readiness.
For context, if you're new to this, frontotemporal dementia is a type of neurodegenerative disorder that affects the frontal and temporal lobes of the brain, leading to changes in behavior, language, and movement. Predictive genetic testing can reveal if someone carries a gene variant that increases the risk, but it doesn't guarantee they'll develop the condition—it's more about awareness and preparation. Genetic counseling plays a crucial role here, providing support, education, and resources to navigate these complex decisions.
The study's results were eye-opening. Empowerment levels, tracked via the GOS before and after counseling, showed a significant boost (with a beta coefficient of 0.25, a 95% confidence interval from 0.44 to 0.46, and a p-value of 0.034). This scale evaluates aspects like explaining the condition to others, spotting family members at risk, handling emotions, grasping ways to lessen its impact, future planning, and making choices for oneself or loved ones. In simpler terms, participants felt more in control and knowledgeable post-counseling.
Participants also rated 14 potential motivators for pursuing genetic testing on a scale from 0 (not important) to 4 (very important). Interestingly, these rankings stayed pretty consistent before and after counseling. Topping the list was the chance to access medical care early, even without symptoms (average score: 3.39)—think of it as proactive health management, like getting regular check-ups for a known family heart issue. Close behind was sharing information with children and family (mean: 3.25), which helps build a supportive network. Other drivers included mental and emotional prep for possible symptoms (3.11), exploring lifestyle tweaks to potentially lower risk (3.04, such as diet or exercise adjustments), and aiding financial planning (2.96). These factors highlight how counseling turns abstract fears into actionable steps.
Using advanced statistical models like linear mixed effects, the researchers found no major shifts in anxiety (p = 0.084) or depression (p = 0.23) after the visits. This is reassuring—it suggests counseling empowers without adding undue stress, though it's worth noting that baseline levels might have been low to begin with.
As Dratch and her team concluded, with gene-specific clinical trials now recruiting at-risk people, crafting best practices for predictive testing is more critical than ever. However, this pilot study's small size and the fact that participants were already eager to engage in research—and mostly open to disclosure—could limit how broadly we apply these results. In other words, while promising, it's a starting point that warrants larger, more diverse studies.
But here's the part most people miss: What if predictive testing isn't just about individual empowerment? Some experts argue it could lead to over-diagnosis or unnecessary worry, potentially straining healthcare systems or even leading to discrimination. And this is where it gets controversial—should genetic counseling push for disclosure in cases where it might not directly benefit the person, or is the real value in family-wide knowledge? For instance, imagine a scenario where knowing a risk prompts someone to pursue experimental treatments, but at what cost to their peace of mind? We invite you to weigh in: Do you think the benefits of genetic counseling outweigh potential downsides, or is there a line we shouldn't cross? Share your thoughts in the comments—do you agree with pushing for more guidelines, or do you see this as overstepping into uncharted ethical territory?
READ MORE: For a related deep dive, check out this article on how pinpointing the genetic roots of neurodevelopmental disorders can shed light on the intensity of gastrointestinal issues: Identifying Genetic Cause of Neurodevelopmental Disorder May Help Understand Severity of Gastrointestinal Dysfunction (https://www.neurologylive.com/view/identifying-genetic-cause-neurodevelopmental-disorder-may-help-understand-severity-gastrointestinal-dysfunction).
Click here for more coverage from the NSGC 2025 conference (https://www.neurologylive.com/conferences/nsgc).
REFERENCES
1. Kwiecinski J, Andrews C, Dengel S, et al. Predictive Genetic Counseling Enhances Empowerment in Individuals At-Risk for Frontotemporal Dementia. Presented at: 2025 NSGC Annual Conference; November 6-10; Seattle, WA. Abstract NEU285
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