NSGC Poster Highlights Positive Impacts of Genetic Counseling for Individuals At-Risk for Frontotemporal Dementia

Findings from a small-scale study of adults from families with a genetic connection to frontotemporal dementia (FTD) revealed several benefits to genetic counseling and its effects on empowering those uncertain of diagnosis. Although the study had limitations, the authors concluded that developing best practice guidelines for predictive genetic testing is a critical next step while the search for disease-modifying treatments continues.¹

Presented at the 44th National Society of Genetic Counselors (NSGC) Annual Conference, held November 6–10 in Seattle, Washington, the single-center, observational study featured 14 unaffected adults from families with a pathogenic variant in an FTD-causing gene. Led by Laynie Dratch, SCM, CGC, a genetic counselor at Penn Medicine, in Philadelphia, the goal of this preliminary analysis was to see how mood and healthcare decision-making change after initial predictive genetic counseling.

To do this, the study authors used validated scales that focused on empowerment (Genomics Outcome Scale [GOS]), anxiety (Generalized Anxiety Disorder-7 [GAD-7]), and depression (Patient Health Questionnaire-9 [PHQ9]). At baseline, patients were from a range of ages, with most between 40-49 (n = 6; 42.9%) and 60-69 (n = 6; 42.9%). Almost all patients had either a graduate degree (n = 9; 64.3%) or bachelor’s degree (n = 2; 14.3%).

Coming into the study, most participants wanted disclosure about their predictive testing results, with 11 wanting it now, 1 in the future, 1 uncertain, and 1 opting no. Following their initial genetic counseling visit, all participants wanted disclosure about their results (10 now, 4 future).

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Data from the analysis revealed that participant empowerment, measured using GOS before and after the initial counseling visit, was significantly increased following counseling (β = 0.25; 95% CI, 0.44–0.46; P = 0.034). Items assessed participants’ confidence in explaining the condition to others, identifying at-risk family members, managing emotional responses, understanding ways to influence the condition’s impact, planning for the future, and making informed decisions for themselves or their children.

Overall, Participants rated 14 potential factors influencing their decision to pursue genetic testing on a 0–4 Likert scale (0 = not important, 4 = very important). Most notably, the importance of these factors remained consistent before and after counseling. Among the influential factors, things like getting medical care as early as possible, even before symptoms develop, was at the top of the most important reasons (mean score, 3.39), followed by the ability to provide information to patients’ children and families (mean, 3.25).

Other factors included preparing mentally and/or emotionally for future symptoms (mean, 3.11), the ability to know about lifestyle changes to possibly reduce the risk of FTD (mean, 3.04), and to help with financial planning (mean, 2.96). Using linear mixed effect models, results indicated no significant change in anxiety (P = .084) or depression (P = .23) following genetic counseling visits.

"Given the emergence of gene-targeted clinical trials enrolling at-risk individuals, developing best practice for predictive genetic testing is critical,” Dratch et al concluded, "An important limitation is that this pilot data comes from a small sample of individuals motivated to participate in research, with nearly all interested in disclosure at baseline, perhaps limiting the generalizability of the results."

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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