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

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. The REVEAL study is a clinical trial in which adult...

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Veröffentlicht in:Genetics in medicine 2005-01, Vol.7 (1), p.48-53
Hauptverfasser: Larusse, Susan, Roberts, J Scott, Marteau, Theresa M., Katzen, Heather, Linnenbringer, Erin L., Barber, Melissa, Whitehouse, Peter, Quaid, Kimberly, Brown, Tamsen, Green, Robert C., Relkin, Norman R.
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Sprache:eng
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Zusammenfassung: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. 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. 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). 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.
ISSN:1098-3600
1530-0366
DOI:10.1097/01.GIM.0000151157.13716.6C