Disclosing genetic risk for Alzheimer's dementia to individuals with mild cognitive impairment

Alzheimers Dement (N Y). 2020 Mar 22;6(1):e12002. doi: 10.1002/trc2.12002. eCollection 2020.


Introduction: The safety of predicting conversion from mild cognitive impairment (MCI) to Alzheimer's disease (AD) dementia using apolipoprotein E (APOE) genotyping is unknown.

Methods: We randomized 114 individuals with MCI to receive estimates of 3-year risk of conversion to AD dementia informed by APOE genotyping (disclosure arm) or not (non-disclosure arm) in a non-inferiority clinical trial. Primary outcomes were anxiety and depression scores. Secondary outcomes included other psychological measures.

Results: Upper confidence limits for randomization arm differences were 2.3 on the State Trait Anxiety Index and 0.5 on the Geriatric Depression Scale, below non-inferiority margins of 3.3 and 1.0. Moreover, mean scores were lower in the disclosure arm than non-disclosure arm for test-related positive impact (difference: -1.9, indicating more positive feelings) and AD concern (difference: -0.3).

Discussion: Providing genetic information to individuals with MCI about imminent risk for AD does not increase risks of anxiety or depression and may provide psychological benefits.

Keywords: Alzheimer's disease; anxiety; apolipoprotein E4; cognitive dysfunction; dementia; depression; emotions; genetic testing; health behavior; humans; random allocation; risk; risk assessment.