Genetic Counseling is Transforming Lives for Those at Risk of Frontotemporal Dementia — But Here's the Part Most People Miss…
A recent study underscores the powerful impact genetic counseling can have on individuals who carry a heightened risk for frontotemporal dementia (FTD), emphasizing the urgent need for clear, standardized guidelines to guide predictive genetic testing.
The research, which examined a small group of adults from families with a known genetic predisposition to FTD, revealed multiple ways in which genetic counseling can empower people facing uncertainty about their health future. While the study had its limitations due to its size and scope, the authors stressed that creating best practice recommendations for predictive testing is a crucial next step, especially as scientists continue the search for therapies that can modify the course of FTD.
This single-center, observational study was showcased at the 44th National Society of Genetic Counselors (NSGC) Annual Conference, held November 6–10 in Seattle, Washington. It included 14 adults from families carrying pathogenic variants linked to FTD. Led by Laynie Dratch, SCM, CGC, a genetic counselor at Penn Medicine in Philadelphia, the study aimed to explore how initial genetic counseling could influence participants' emotional well-being and their approach to healthcare decisions.
To evaluate these outcomes, researchers used validated measurement tools: the Genomics Outcome Scale (GOS) to assess empowerment, the Generalized Anxiety Disorder-7 (GAD-7) scale for anxiety, and the Patient Health Questionnaire-9 (PHQ-9) for depression. Participants ranged widely in age, with the majority between 40-49 years (6 participants, 42.9%) and 60-69 years (6 participants, 42.9%). Education levels were high, with nearly two-thirds holding graduate degrees (9 participants, 64.3%) and a smaller portion holding bachelor's degrees (2 participants, 14.3%).
Before attending genetic counseling, most participants expressed a desire to learn their predictive test results immediately: 11 wanted immediate disclosure, 1 preferred to wait, 1 was uncertain, and 1 chose not to know. After their initial counseling session, all participants indicated they wanted access to their results, with 10 opting for immediate disclosure and 4 choosing to receive them later.
Data analysis demonstrated a significant increase in empowerment after the counseling sessions, as measured by the GOS (β = 0.25; 95% CI, 0.44–0.46; P = 0.034). The scale assessed participants' confidence in explaining FTD to others, identifying at-risk relatives, managing their emotions, understanding ways to influence the condition's impact, planning ahead, and making informed decisions for themselves and their families.
Participants also evaluated 14 potential factors that could influence their decision to pursue genetic testing using a 0–4 Likert scale (0 = not important, 4 = very important). Interestingly, the relative importance of these factors remained largely unchanged before and after counseling. The top reasons for testing included accessing medical care as early as possible, even before symptoms appeared (mean score 3.39), and providing valuable information to children and family members (mean 3.25). Other notable considerations included preparing emotionally for potential future symptoms (mean 3.11), learning lifestyle adjustments that could reduce FTD risk (mean 3.04), and financial planning (mean 2.96). Despite these positive effects on empowerment, there were no statistically significant changes in anxiety (P = .084) or depression (P = .23) after the counseling sessions.
"With the rise of gene-targeted clinical trials enrolling individuals at risk, establishing best practices for predictive genetic testing is more important than ever," Dratch and colleagues concluded. They noted a key limitation: the study involved a small, highly motivated sample, nearly all of whom were eager for disclosure at the outset. This may limit how broadly these findings can be applied to the general population.
Could the empowerment seen in this study hint at a future where genetic counseling becomes a standard part of care for at-risk individuals? Or does the high motivation and education level of participants suggest the results might not reflect everyone facing similar risks? The discussion is wide open, and your perspective matters—do you agree that genetic counseling should be more widely offered, or do you see potential downsides?
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REFERENCES:
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.
