The experience of “at-risk” status for familial frontotemporal dementia (fFTD) and its impact on reproductive decision-making: A qualitative study

Familial frontotemporal dementia (fFTD) is an autosomal dominant heritable form of FTD, onsetting in mid-life, characterized by behavioral and personality changes. Children of an affected parent are at 50% risk of inheriting the relevant fFTD gene variant and developing FTD. Genetic testing means a growing group of people are aware of or considering learning their risk status. This knowledge, combined with witnessing parents' symptoms, has implications for reproduction. This study explores attitudes and approaches to reproductive decision-making among those at risk for fFTD. Thirteen qualitative interviews were conducted with at-risk individuals, including parents and non-parents, and analyzed using Thematic Analysis to explore experiences of at-risk relatives of people with symptomatic FTD, attitudes toward reproductive decision-making, and, among parents, influences of genetic risk status on parenting. The themes identified were: (1) Fear of repetition of own experience with symptomatic relatives; (2) Approaches to mitigating repetition; (3) Responses to genetic risk in reproductive decision-making; (4) Accounting for timing in reproductive decision-making; (5) Challenges of disclosing genetic risk to children; (6) Other mitigating factors in reproductive decision-making. Findings highlight the key role of previous experiences with symptomatic relatives in shaping attitudes toward genetic risk status and approaches to managing it in reproductive decision-making. Findings highlight a need for responsive genetic counseling focused on exploring options alongside providing information and signposting to practical legal and financial support. Future research should specifically compare experiences in fFTD with experiences in other heritable neurodegenerative disorders and explore reproductive decision-making for couples where one partner is at risk of fFTD.