Cited by 67Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatmentsBRCA gene mutations in cancer

Genetic susceptibility testing versus family history–based risk assessment: Impact on perceived risk of Alzheimer disease

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Larusse, Susan, Roberts, J Scott, Marteau, Theresa M., Katzen, Heather, Linnenbringer, Erin L., Barber, Melissa, Whitehouse, Peter, Quaid, Kimberly +3 more·2005·Genetics in Medicine

Abstract

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 < 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). The Genotype Group was less likely to believe that they would develop AD (13% vs. 36%, P < 0.05) and was more likely to report that the risk assessment removed uncertainty about their chances of developing AD (63% vs. 9%, P < 0.0001). 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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  • Studies on genetic susceptibility testing for Alzheimer's disease show a strong association between family history and genetic risk factors and self-perceived risk of the disease.

    “Similarly, studies on genetic susceptibility testing for AD have shown that there is a strong association between family history and genetic risk factor for AD on self-perceived risk of the disease (Hiraki, Chen, Roberts, Cupples, & Green, 2008; Larusse et al., 2005).”

    From Correlates of dementia-related anxiety: self-perceived dementia risk and ageism (2020) · cites this paper as Larusse et al., 2005

    The Abstract (page unavailable) reports that women given an APOE ε4-negative result perceived lower AD risk than women given the same numerical estimate based on family history alone. This supports an effect of genetic-test information on perceived risk, but all participants had a family history of AD; the study does not establish a separate strong association between family history and perceived risk. (LLM, conf=0.86)

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Research works printed but not linked: 3

  1. Green RC. Genetic testing for Alzheimer's disease: has the moment arrived? Alz Care Quarterly 2002;208 -214.
  2. Murray TH. Genetic exceptionalism and 'future diaries': Is genetic information different from other medical information? In: Rothstein MA, ed. Genetic secrets: Protecting privacy and confidentiality in the genetic era, vol 1. New Haven: Yale University Press, 1997:60 -72
  3. LaRusse S, Katzen H, Brown T, Barber M, Whitehouse P, Green RC et al. Participant recall of their own apolipoprotein E (APOE) genotype and risk estimate after six weeks: results from the REVEAL Study. Neurobiol Aging 2002;23:S324.

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Authors
Larusse, S., Roberts, J. S., Marteau, T. M., Katzen, H., Linnenbringer, E. L., Barber, M., Whitehouse, P., Quaid, K., Brown, T., Green, R. C., & Relkin, N. R.
Affiliations
  • Columbia University (US)
  • Boston University (US)
  • King's College London (GB)
  • Cornell University (US)
  • University Hospitals of Cleveland (US)
Venue
Genetics in Medicine
Publisher
Elsevier BV
Published
2005-01
Volume
7
Issue
1
Pages
48-53
ISSN
1098-3600 (ISSN-L)
OpenAlex
W2134881136
Cited by
67
References
27
Citations by year
2026: 1 · 2025: 4 · 2023: 4 · 2022: 1 · 2021: 3 · 2020: 2 · 2019: 3 · 2018: 2 · 2016: 2 · 2015: 3 · 2014: 2 · 2013: 5 · 2012: 7
FWCI
3.08
Type
journal article
Language
en
Open access
Locations
  • Genetics in Medicine (publishedVersion)
  • PubMed (publishedVersion)
  • Research Portal (King's College London) (submittedVersion)
  • DigitalGeorgetown (Georgetown University Library) (submittedVersion)
Funders
  • National Institute on Aging (P30AG013846)
  • National Human Genome Research Institute (R01-HG/AG02213)
  • National Center for Research Resources (M01RR000533)
Topics
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
Keywords
Alzheimer's disease, genetic susceptibility testing, family history (medicine), risk perception, apolipoprotein E, APOE ε4, risk disclosure, anxiety, uncertainty reduction, risk communication
MeSH terms
Alzheimer Disease, Apolipoproteins E, Family, Genetic Testing, Genotype, Humans, Pedigree, Risk Factors, Risk Assessment, Genetic Predisposition to Disease

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