APOE Genotype Disclosure for Risk of Alzheimer’s Disease: The REVEAL Study

Background: APOE genotype provides information on risk of developing Alzheimer’s disease (AD), but disclosure is discouraged. We examined the impact of APOE disclosure in a prospective randomized controlled trial: the Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) Study. Methods: We randomly assigned 162 asymptomatic adult children of AD patients to Genotype Disclosure (GD) or Genotype Non-Disclosure (GND) groups. We measured anxiety, depression symptoms and test-related distress 6 weeks, 6 months and 1 year after disclosure. Results: Changes in time-averaged measures of anxiety (p = 0.84), depression symptoms (p = 0.98) and test-related distress (p = 0.61) did not differ between GD and GND groups. Secondary comparisons between those with higher risk (GDε4+) and the GND group revealed no significant differences. The GDε4group showed a significantly lower level of test-related distress in comparison with the GDε4+ group (p = 0.01). Persons with clinically meaningful changes in psychological outcomes were distributed evenly among the GND, GDε4+ and GDε4groups. Baseline scores of anxiety and depression symptoms were strongly associated with postdisclosure scores of these measures (p < 0.0001 for each). Conclusion: Disclosure of APOE genotype to adult children of persons with AD did not result in significant short-term psychological risks to those who received genotype information or to those who learned they were APOE ε4+; distress was reduced among those who learned they were APOE ε4-. Persons with high levels of emotional distress before undergoing genetic testing were more likely to have emotional difficulties after disclosure. (ClinicalTrials.gov number NCT00571025.)