'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


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

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Psychology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health


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