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

Susan LaRusse, J. Scott Roberts, Theresa M. Marteau, Heather Katzen, Erin L. Linnenbringer, Melissa Barber, Peter Whitehouse, Kimberly Quaid, Tamsen Brown, Robert C. Green, Norman R. Relkin

Research output: Contribution to journalArticlepeer-review

54 Scopus citations


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 ε4-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.

Original languageEnglish
Pages (from-to)48-53
Number of pages6
JournalGenetics in Medicine
Issue number1
StatePublished - Jan 2005


  • APOE
  • Alzheimer disease
  • Genetic counseling
  • Genetic susceptibility testing
  • Risk perception


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