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Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease
Roberts JS, LaRusse SA, Katzen H, Whitehouse PJ, Barber M, Post SG, Relkin N, Quaid K et al.. Alzheimer disease and associated disorders, 2003-04-01
Topic: Amyloid, tau and blood-test diagnosis
Advances in genetic research have provided a basis for susceptibility testing for Alzheimer disease (AD). Prior surveys have examined attitudes toward genetic testing for AD in hypothetical scenarios, but it is unclear what reasons would motivate people to seek testing in real-life situations. This study presents data from the first randomized trial to evaluate genetic susceptibility testing for asymptomatic adult children of people with AD. We examined (1) reasons endorsed as motivations for seeking testing, (2) demographic characteristics associated with these reasons, and (3) how these reasons related to the eventual decision to pursue testing. Eligible participants were 206 adult children of people with AD (mean age 53 years; 72% female; 93% white), 77.7% of whom (n = 160) went on to seek testing. Participants endorsed numerous reasons for seeking susceptibility testing (mean 7.2), encompassing a range of motivations. The most commonly endorsed reasons were as follows: (1) to contribute to research (93.9%), (2) to arrange personal affairs (87.4%), and (3) the hope that effective treatment will be developed (86.8%). Women strongly endorsed more reasons for seeking testing than men (p < 0.05). The best predictor of actual pursuit of testing was strong endorsement of the need to prepare family members for AD (odds ratio = 3.3, p < 0.01). Findings suggest that genetic susceptibility testing is of interest to individuals at risk for AD for a variety of reasons, even in the relative absence of available treatments.
Key findings
- We examined (1) reasons endorsed as motivations for seeking testing, (2) demographic characteristics associated with these reasons, and (3) how these reasons related to the eventual decision to pursue testing.
- Findings suggest that genetic susceptibility testing is of interest to individuals at risk for AD for a variety of reasons, even in the relative absence of available treatments.
Why it matters
This study examined why 206 adult children of people with Alzheimer's disease sought genetic susceptibility testing, with the most common reasons being to contribute to research, arrange personal affairs, and hope for effective treatment. The findings show interest in testing even without available treatments, but the study does not test any treatment, cure, or prevention for Alzheimer's disease.
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Study details
- Study designrandomized controlled trial
- Participants160
- Effect size77.7%; 93.9%; 87.4%
- Evidence strengthHigh
How this study scored 63/100
Published in a peer-reviewed journal, and it is a randomised controlled trial.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Alzheimer disease and associated disorders) |
| Journal's citation record | 1 / 4 | Alzheimer Disease & Associated Disorders: journal h-index 131 (OpenAlex, 2026-10-29) |
| Study design | 11 / 12 | A randomised controlled trial |
| Strength of evidence | 5 / 5 | Rated “high” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 2003 — older than 20 years, still counted |
| Sample size | 2 / 4 | 160 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 1 / 2 | Randomised (as stated in the record) |
| Times cited | 4 / 7 | Cited 89 times (OpenAlex, 2026-10-10) |
| Citations per year | 2 / 5 | 3.6 citations a year over 25 year(s) since 2003 |
| Impact for its field and year | 3 / 6 | Cited 3.5× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 4 other studies in this library |
| Still being cited | 1 / 4 | Cited 6 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 2 / 4 | Last-listed author Robert C. Green: h-index 32 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Cornell University: institution h-index 1,649 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 7 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 12794385) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 63 / 100 | — |
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Read the original
May need a subscription Unpaywall, Europe PMC and OpenAlex found no free copy of the full text (checked 10 Oct 2026), so the publisher may charge for it. The PubMed abstract is free.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
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APA 7th
Roberts, J. S., LaRusse, S. A., Katzen, H., Whitehouse, P. J., Barber, M., Post, S. G., et al. (2003). Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease. Alzheimer disease and associated disorders. https://doi.org/10.1097/00002093-200304000-00006
Vancouver
Roberts JS, LaRusse SA, Katzen H, Whitehouse PJ, Barber M, Post SG, et al. Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease. Alzheimer disease and associated disorders. 2003. doi:10.1097/00002093-200304000-00006. PMID: 12794385.
BibTeX
@article{roberts2003-12794385,
author = {Roberts, J. S. and LaRusse, S. A. and Katzen, H. and Whitehouse, P. J. and Barber, M. and Post, S. G. and Relkin, N. and Quaid, K. and others},
title = {{Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease}},
journal = {Alzheimer disease and associated disorders},
year = {2003},
doi = {10.1097/00002093-200304000-00006},
pmid = {12794385},
url = {https://doi.org/10.1097/00002093-200304000-00006}
}
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