Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study

TL;DR

This study explores why people at risk for frontotemporal dementia choose or avoid genetic testing, highlighting factors like uncertainty, life planning, and psychological concerns.

Contribution

The study provides new insights into the decision-making processes of individuals at risk for FTD regarding presymptomatic genetic testing.

Findings

Reasons for testing include wanting to know, life planning, and contributing to research.

Reasons against testing include fear of psychological impact and concerns about employment or insurance.

Decision-making is influenced by age, family experience with FTD, and perceived relevance of genetic status.

Abstract

The majority of individuals at 50% risk of carrying a pathogenic variant causing frontotemporal dementia (FTD) chooses not to undergo presymptomatic genetic testing. To explore reasons of individuals at risk of genetic FTD for and against genetic testing, we conducted a secondary analysis of semi-structured interviews with 28 Dutch individuals at risk of genetic FTD: 11 carriers, three non-carriers and 14 individuals at 50% risk. We analyzed the data using inductive thematic analysis. Reasons in favor of presymptomatic genetic testing included wanting to know and relieving uncertainty, hoping to test negative, relevance for life planning, reproductive decision-making, explaining future symptoms, and contributing to the common good. Reasons against presymptomatic genetic testing were fearing psychological impact, fearing effects on employment, insurability or mortgage, maintaining hope, and no immediate relevance for life planning, partly due to uncertainty surrounding age of onset. Reasons were similar in all groups, but were weighed differently. Decision-making processes were influenced by (expectations of) psychological burden before and after testing, personal experiences with FTD in the family, and whether genetic status was perceived as actionable. Perceived relevance was partly influenced by age (in relation to age of onset), life circumstances and research participation. When supporting individuals at risk of FTD in decision-making regarding genetic testing, genetic counselors should be aware of and tailor counseling to the individual’s age and lived experience with being at risk, experiences with FTD and related disorders in the family, and factors influencing the perceived relevance of genetic status for reproductive or life decision-making.

The online version contains supplementary material available at 10.1007/s00439-025-02795-1.