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Disclosure of APOE genotype for risk of Alzheimer’s disease


Green, Robert C., Roberts, J. Scott, Cupples, L. Adrienne, Relkin, Norman R., Whitehouse, Peter J., Brown, Tamsen, Eckert, Susan LaRusse, Butson, Melissa, Sadovnick, A. Dessa, Quaid, Kimberly A., Chen, Clara, Cook-Deegan, Robert, Farrer, Lindsay A.


The New England Journal Of Medicine, Volume: 361, No.: 3, Pages.: 245-254

Year of Publication



Background: The apolipoprotein E (APOE) genotype provides information on the risk of Alzheimer’s disease, but the genotyping of patients and their family members has been discouraged. We examined the effect of genotype disclosure in a prospective, randomized, controlled trial.; Methods: We randomly assigned 162 asymptomatic adults who had a parent with Alzheimer’s disease to receive the results of their own APOE genotyping (disclosure group) or not to receive such results (nondisclosure group). We measured symptoms of anxiety, depression, and test-related distress 6 weeks, 6 months, and 1 year after disclosure or nondisclosure.; Results: There were no significant differences between the two groups in changes in time-averaged measures of anxiety (4.5 in the disclosure group and 4.4 in the nondisclosure group, P=0.84), depression (8.8 and 8.7, respectively; P=0.98), or test-related distress (6.9 and 7.5, respectively; P=0.61). Secondary comparisons between the nondisclosure group and a disclosure subgroup of subjects carrying the APOE epsilon4 allele (which is associated with increased risk) also revealed no significant differences. However, the epsilon4-negative subgroup had a significantly lower level of test-related distress than did the epsilon4-positive subgroup (P=0.01). Subjects with clinically meaningful changes in psychological outcomes were distributed evenly among the nondisclosure group and the epsilon4-positive and epsilon4-negative subgroups. Baseline scores for anxiety and depression were strongly associated with post-disclosure scores of these measures (P<0.001 for both comparisons).; Conclusions: The disclosure of APOE genotyping results to adult children of patients with Alzheimer's disease did not result in significant short-term psychological risks. Test-related distress was reduced among those who learned that they were APOE epsilon4-negative. Persons with high levels of emotional distress before undergoing genetic testing were more likely to have emotional difficulties after disclosure. ( number, NCT00571025.); 2009 Massachusetts Medical Society

Bibtex Citation

@article{Green_2009, doi = {10.1056/nejmoa0809578}, url = {}, year = 2009, month = {jul}, publisher = {New England Journal of Medicine ({NEJM}/{MMS})}, volume = {361}, number = {3}, pages = {245--254}, author = {Robert C. Green and J. Scott Roberts and L. Adrienne Cupples and Norman R. Relkin and Peter J. Whitehouse and Tamsen Brown and Susan LaRusse Eckert and Melissa Butson and A. Dessa Sadovnick and Kimberly A. Quaid and Clara Chen and Robert Cook-Deegan and Lindsay A. Farrer}, title = { Disclosure of {APOE} Genotype for Risk of Alzheimer{textquotesingle}s Disease }, journal = {New England Journal of Medicine} }


adult, aged, alzheimer disease, anxiety, apolipoprotein e4, depression, etiology, female, genetic counseling, genetic predisposition to disease, genetic testing, genetics, genotype, humans, male, middle aged, polymorphism genetic, prospective studies, psychology, truth disclosure

Countries of Study


Types of Dementia

Alzheimer’s Disease

Types of Study

Randomised Controlled Trial

Type of Outcomes

Depression and Anxiety

Type of Interventions

Diagnostic Target Identification

Diagnostic Targets

Genetic Testing