'Choosing Wisely': Apolipoprotein e Genetic Testing for the Diagnosis of Alzheimer's Disease in Dementia Clinics

Hyun Ju Yang, Na Ri Kang, Young Eun Jung, Moon Doo Kim, Hyun Ghang Jeong, Tae Jin Lee, Ji Won Han, Ki Woong Kim, Joon Hyuk Park

    Research output: Contribution to journalArticlepeer-review


    Background: Apolipoprotein E (APOE) ϵ4 allele carriers have an increased risk of late-onset Alzheimer's disease (AD). However, in the 'Choosing Wisely' campaign for avoiding unnecessary medical tests, treatments, and procedures, APOE genetic testing is not recommended as a predictive test for AD. Objective: The aim of this study was to investigate the potential value of APOE genetic testing in a specific clinical context. Methods: Subjects with poor performance in the Korean version of the Mini-Mental Status Examination for dementia screening (MMSE-DS) with a Z-score of less than -1.5 were recruited from the public health centers. All participants underwent APOE genetic testing. Family history of dementia (FHx) was confirmed if one or more first-degree relatives had dementia. Results: Among 349 subjects, 162 (46.4%) were diagnosed with AD. APOE ϵ4 allele carriers had a much higher risk of AD in the group with FHx than in the group without FHx (OR=15.81, 95% CI=2.74-91.21 versus OR=1.82, 95% CI=1.00-3.27, z=2.293, p=0.011). The sensitivity, specificity, positive predictive value, and negative predictive value for the APOE ϵ4 allele were 47.7%, 90.9%, 91.3%, and 46.5% in the group with FHx. Conclusion: It would be a wise choice to perform the APOE genetic testing for the diagnosis of AD in subjects with poor performance in a screening test and a family history of dementia.

    Original languageEnglish
    Pages (from-to)1253-1260
    Number of pages8
    JournalJournal of Alzheimer's Disease
    Issue number4
    Publication statusPublished - 2020

    Bibliographical note

    Funding Information:
    This study was supported by a grant from the Korean Health Industry Development Institute (KHIDI), funded by Ministry of Health and Welfare, Republic of Korea (Grant No. HC15C1509).

    Publisher Copyright:
    © 2020 - IOS Press and the authors. All rights reserved.


    • Alzheimer's disease
    • apolipoprotein genetic testing
    • odds ratio
    • sensitivity
    • specificity

    ASJC Scopus subject areas

    • General Neuroscience
    • Clinical Psychology
    • Geriatrics and Gerontology
    • Psychiatry and Mental health


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