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Genetic susceptibility testing versus family history-based risk assessment: Impact on perceived risk of Alzheimer disease
LaRusse S, Roberts JS, Marteau TM, Katzen H, Linnenbringer EL, Barber M, Whitehouse P, Quaid K et al.. Genetics in medicine : official journal of the American College of Medical Genetics, 2005-01-01
Topic: Amyloid, tau and blood-test diagnosis
Purpose We examined how an Alzheimer disease (AD) family history assessment as compared to a risk assessment incorporating the absence of a disease-associated susceptibility allele affected risk perception among adult children with a family history of AD. Methods The REVEAL study is a clinical trial in which adult children of patients with AD were randomized to receive a risk assessment based upon family history alone or family history plus apolipoprotein E (APOE) disclosure. In this analysis, two subsets of women were identified, each of whom received identical 29% lifetime risk estimates of developing AD. One group received a risk estimate that incorporated APOE epsilon4-negative genetic test results (Genotype Group, n = 30), whereas the other received a risk estimate based on family history and gender (Family History Group, n = 36). Six weeks after risk disclosure, we surveyed participants regarding the impact of the risk assessment on their perceptions of AD risk. Results 73% of the Genotype Group judged their risk to be lower compared to 25% of the Family History Group (P Conclusions These data suggest that risk estimates incorporating negative genetic test results affect perceptions of disease susceptibility more strongly than identical estimates based on family history alone.
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APA 7th
LaRusse, S., Roberts, J. S., Marteau, T. M., Katzen, H., Linnenbringer, E. L., Barber, M., et al. (2005). Genetic susceptibility testing versus family history-based risk assessment: Impact on perceived risk of Alzheimer disease. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1097/01.gim.0000151157.13716.6c
Vancouver
LaRusse S, Roberts JS, Marteau TM, Katzen H, Linnenbringer EL, Barber M, et al. Genetic susceptibility testing versus family history-based risk assessment: Impact on perceived risk of Alzheimer disease. Genetics in medicine : official journal of the American College of Medical Genetics. 2005. doi:10.1097/01.gim.0000151157.13716.6c. PMID: 15654228.
BibTeX
@article{larusse2005-15654228,
author = {LaRusse, S. and Roberts, J. S. and Marteau, T. M. and Katzen, H. and Linnenbringer, E. L. and Barber, M. and Whitehouse, P. and Quaid, K. and others},
title = {{Genetic susceptibility testing versus family history-based risk assessment: Impact on perceived risk of Alzheimer disease}},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
year = {2005},
doi = {10.1097/01.gim.0000151157.13716.6c},
pmid = {15654228},
url = {https://doi.org/10.1097/01.gim.0000151157.13716.6c}
}
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
- Purpose We examined how an Alzheimer disease (AD) family history assessment as compared to a risk assessment incorporating the absence of a disease-associated susceptibility allele affected risk perception among adult children with a family history of AD.
- One group received a risk estimate that incorporated APOE epsilon4-negative genetic test results (Genotype Group, n = 30), whereas the other received a risk estimate based on family history and gender (Family History Group, n = 36).
- Results 73% of the Genotype Group judged their risk to be lower compared to 25% of the Family History Group (P < 0.0001). 67% of the Genotype Group reported lower anxiety about AD, versus 26% of the Family History Group (P < 0.01). 80% of the Genotype Group indicated that the risk information had a positive impact, versus 36% of the Family History Group (P < 0.001).
Why it matters
This study looked at how people perceived their risk of Alzheimer's disease after receiving different types of risk information. It does not test any treatment and provides no evidence for curing or preventing the disease.
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Study details
- Participants30
- Evidence strengthHigh
How this study scored 49/100
Published in a peer-reviewed journal. Scored zero for study design and effect reported because the record does not state it.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Genetics in medicine : official journal of the American College of Medical Genetics) |
| Journal's citation record | 2 / 4 | Genetics in Medicine: journal h-index 204 (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 | 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 | 2005 — older than 20 years, still counted |
| Sample size | 1 / 4 | 30 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 | 1 / 2 | Randomised (as stated in the record) |
| Times cited | 4 / 7 | Cited 68 times (OpenAlex, 2026-10-10) |
| Citations per year | 1 / 5 | 3.0 citations a year over 23 year(s) since 2005 |
| Impact for its field and year | 2 / 6 | Cited 2.9× 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 5 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | 3 / 4 | Last-listed author Norman R. Relkin: h-index 72 (OpenAlex, whole career) |
| Institution's track record | 2 / 3 | Columbia University: institution h-index 1,824 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 8 institution(s) in 2 countries |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 15654228) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Total | 49 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
- DOI: 10.1097/01.gim.0000151157.13716.6c
- PubMed: 15654228
- Original source →
- Free full text: gimjournal.org →
Full text: free to read — Unpaywall lists this copy as free to read: the link above (checked 10 Oct 2026).
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