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Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study
Charlotte H Graafland, Harro Seelaar, Jessica L. Panman, John Cornelis Van Swieten, Eline Maria Bunnik, Laura Donker Kaat. Human Genetics, 2026-02-16
Topic: Brain proteins, microglia and lab models
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.
Key findings
- 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.
Why it matters
This qualitative study of 28 Dutch people at risk of genetic frontotemporal dementia describes reasons for and against presymptomatic genetic testing, including wanting certainty versus fears about psychological impact, employment and insurance. It addresses decision-making about testing, not treating, curing or preventing the disease.
Study details
- Participants14
- Evidence strengthLow
How this study scored 44/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomised / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Human Genetics) |
| Journal's citation record | 2 / 4 | Human Genetics: journal h-index 209 (OpenAlex, 2026-10-29) |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 5 / 5 | 2026 — within 1 year(s) of the newest study here |
| Sample size | 1 / 4 | 14 participants |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 1 / 7 | Cited 3 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 1.5 citations a year over 2 year(s) since 2026 |
| Impact for its field and year | 4 / 6 | Cited 14.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 0 / 6 | No other study in this library cites it |
| Still being cited | 1 / 4 | Cited 3 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Laura Donker Kaat: h-index 24 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Erasmus MC: institution h-index 1,321 (OpenAlex) |
| Multi-centre collaboration | 1 / 3 | OpenAlex lists 2 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 41697408) |
| Free to read | 2 / 2 | Free to read |
| Total | 44 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
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Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Graafland, C. H., Seelaar, H., Panman, J. L., Van Swieten, J. C., Bunnik, E. M., & Kaat, L. D. (2026). Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study. Human Genetics. https://doi.org/10.1007/s00439-025-02795-1
Vancouver
Graafland CH, Seelaar H, Panman JL, Van Swieten JC, Bunnik EM, Kaat LD. Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study. Human Genetics. 2026. doi:10.1007/s00439-025-02795-1. PMID: 41697408.
BibTeX
@article{graafland2026-41697408,
author = {Graafland, Charlotte H and Seelaar, Harro and Panman, Jessica L. and Van Swieten, John Cornelis and Bunnik, Eline Maria and Kaat, Laura Donker},
title = {{Reasons for and against presymptomatic genetic testing in frontotemporal dementia: a qualitative study}},
journal = {Human Genetics},
year = {2026},
doi = {10.1007/s00439-025-02795-1},
pmid = {41697408},
url = {https://doi.org/10.1007/s00439-025-02795-1}
}
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