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Deciding on genetic testing for familial dementia: Perspectives of patients and families
Jetske van der Schaar, Sven J. van der Lee, Eva C. A. Asscher, Yolande A.L. Pijnenburg, Christa M. de Geus, Annelien L. Bredenoord, Wiesje M. van der Flier, Mariette A. van den Hoven et al.. Alzheimer s & Dementia, 2025-04-01
Topic: Risk, prevention and care in population studies
Plain-language summary
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. 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.
What this study adds
Evidence grade: Low
The record lists 15 participants. Among 138 eligible memory clinic patients, 75 (54%) underwent genetic testing for familial dementia, and those tested had better cognition, higher quality of life, and more often undetermined diagnoses. Decisions were driven by intuitive, value-based judgments rather than factual deliberation, so this study is about genetic testing decisions, not about treating, curing, or preventing Alzheimer's disease.
Taken from this record’s own fields, not from reading the paper. The grade is assigned from the abstract’s wording; what that means.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
van der Schaar, J., van der Lee, S. J., Asscher, E. C. A., Pijnenburg, Y. A., de Geus, C. M., Bredenoord, A. L., et al. (2025). Deciding on genetic testing for familial dementia: Perspectives of patients and families. Alzheimer s & Dementia. https://doi.org/10.1002/alz.70140
Vancouver
van der Schaar J, van der Lee SJ, Asscher ECA, Pijnenburg YA, de Geus CM, Bredenoord AL, et al. Deciding on genetic testing for familial dementia: Perspectives of patients and families. Alzheimer s & Dementia. 2025. doi:10.1002/alz.70140. PMID: 40189825.
BibTeX
@article{vanderschaar2025-40189825,
author = {van der Schaar, Jetske and van der Lee, Sven J. and Asscher, Eva C. A. and Pijnenburg, Yolande A.L. and de Geus, Christa M. and Bredenoord, Annelien L. and van der Flier, Wiesje M. and van den Hoven, Mariette A. and others},
title = {{Deciding on genetic testing for familial dementia: Perspectives of patients and families}},
journal = {Alzheimer s \& Dementia},
year = {2025},
doi = {10.1002/alz.70140},
pmid = {40189825},
url = {https://doi.org/10.1002/alz.70140}
}
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. The record's author list ends in “et al.”, so not every author is named. Check the citation against the original before you use it.
Key findings
- 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.
- 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.
Why it matters
Among 138 eligible memory clinic patients, 75 (54%) underwent genetic testing for familial dementia, and those tested had better cognition, higher quality of life, and more often undetermined diagnoses. Decisions were driven by intuitive, value-based judgments rather than factual deliberation, so this study is about genetic testing decisions, not about treating, curing, or preventing Alzheimer's disease.
Study details
- Participants15
- Evidence strengthLow
How this study scored 42/100
Published in a peer-reviewed journal. Scored zero for study design, effect reported and randomized / blinded because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Alzheimer s & Dementia) |
| Journal's citation record | 2 / 4 | Alzheimer s & Dementia: journal h-index 228 (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 | 4 / 5 | 2025 — within 3 year(s) of the newest study here |
| Sample size | 1 / 4 | 15 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) |
| Randomized / blinded | 0 / 2 | No randomization or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 1 / 7 | Cited 4 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 1.3 citations a year over 3 year(s) since 2025 |
| Impact for its field and year | 2 / 6 | Cited 2.5× 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 4 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Leonie N.C. Visser: h-index 24 (OpenAlex, whole career) |
| Institution's track record | 1 / 3 | Utrecht University: institution h-index 1,157 (OpenAlex) |
| Multicenter collaboration | 2 / 3 | OpenAlex lists 9 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 40189825) |
| Free to read | 2 / 2 | Free to read |
| Total | 42 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
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