Deciding on genetic testing for familial dementia: Perspectives of patients and families

INTRODUCTION: We explored patients’ and families’ interest in, predictors of, and considerations regarding genetic testing for monogenic causes of dementia in a diagnostic setting. METHODS: This mixed-methods study evaluated 519 consecutive Alzheimer Center Amsterdam patients for monogenic testing eligibility. Among those qualifying, differences between testers and non-testers were analyzed. Thirty-three patients completed questionnaires. Additionally, we conducted 21 semi-structured interviews with 15 patients and 18 relatives. Verbatim transcripts were analyzed inductively. RESULTS: Of 138 (27%) eligible patients (46% female, age 61 ± 8 years, Mini-Mental State Examination [MMSE] 22 ± 6), 75 (54%) underwent genetic testing. Testers had better cognition, higher quality of life, and more often undetermined diagnoses than non-testers (all p < 0.05). Decisions were guided by intuitive, value-driven judgments: testers sought to provide heredity information to relatives, enhance actionability, and reduce uncertainty, while non-testers worried about psychosocial impact on family, or unfavorable timing. DISCUSSION: The substantial interest in genetic testing for monogenic causes of dementia underscores the need for further research into the implications of disclosing test results to memory clinic patients. Highlights: Half of memory clinic patients’ who met eligibility criteria proceeded with genetic testing. Those tested were more likely to have an undetermined diagnosis, better cognition, and higher quality of life. Decisions were motivated less by deliberation of factual information, and more by quick, intuitive judgments. Motivations pro included providing information, enhancing actionability, and resolving uncertainty. Motivations con comprised concerns about the emotional burden and disruptive impact on their family.