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

IF 3.4 2区生物学 Q2 GENETICS & HEREDITY

Human Genetics Pub Date : 2026-02-16 DOI:10.1007/s00439-025-02795-1

Charlotte H Graafland, Harro Seelaar, Jessica L Panman, John C van Swieten, Eline M Bunnik, Laura Donker Kaat

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引用次数: 0

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.

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对额颞叶痴呆进行症状前基因检测的理由和反对理由：一项定性研究。

大多数携带致病变异导致额颞叶痴呆（FTD）风险为50%的个体选择不进行症状前基因检测。为了探讨有遗传性FTD风险的个体支持和反对基因检测的原因，我们对28名有遗传性FTD风险的荷兰个体进行了半结构化访谈的二次分析：11名携带者，3名非携带者和14名50%风险的个体。我们采用归纳主题分析法对数据进行分析。赞成进行症状前基因检测的原因包括想要了解和减轻不确定性，希望检测呈阴性，与生活规划、生育决策有关，解释未来的症状，以及为共同利益做出贡献。反对症状前基因检测的原因是担心心理影响，担心对就业、保险或抵押的影响，维持希望，以及与生活规划没有直接关系，部分原因是发病年龄的不确定性。所有组的原因都相似，但权重不同。决策过程受到检测前后心理负担（预期）、家庭中FTD的个人经历以及是否认为遗传状况可采取行动的影响。感知相关性部分受到年龄（与发病年龄相关）、生活环境和研究参与的影响。在支持有FTD风险的个体进行基因检测决策时，遗传咨询师应该意识到并根据个体的年龄和有风险的生活经历、FTD和家庭相关疾病的经历，以及影响遗传状况与生殖或生活决策的感知相关性的因素来定制咨询。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Genetics 生物-遗传学

CiteScore

10.80

自引率

3.80%

发文量

审稿时长

1 months

期刊介绍： Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology. Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted. The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.