“Choosing Wisely”: Apolipoprotein E Genetic Testing for the Diagnosis of Alzheimer’s Disease in Dementia Clinics

Article type: Research Article

Authors: Yang, Hyun Ju^a | Kang, Na Ri^{a; b} | Jung, Young Eun^{a; b} | Kim, Moon Doo^{a; b} | Jeong, Hyun Ghang^c | Lee, Tae Jin^d | Han, Ji Won^e | Kim, Ki Woong^{e; f; g} | Park, Joon Hyuk^{a; b; *}

Affiliations: [a] Department of Neuropsychiatry, Jeju National University Hospital, Jeju, Korea | [b] Department of Neuropsychiatry, Jeju National University School of Medicine, Jeju, Korea | [c] Department of Neuropsychiatry, Korea University College of Medicine, Seoul, Korea | [d] Department of Public Health Science, Seoul National University, Seoul, Korea | [e] Department of Neuropsychiatry, Seoul National University Bundang Hospital, Gyeonggido, Korea | [f] Department of Psychiatry, Seoul National University, College of Medicine, Seoul, Korea | [g] Department of Brain and Cognitive Sciences, Seoul National University, College of Natural Sciences, Seoul, Korea

Correspondence: [*] Correspondence to: Joon Hyuk Park, MD, PhD, Department of Psychiatry, Jeju National University Hospital, 15 Aran 13-gil, Jeju-si, Jeju Special Self-Governing Province 63241, Republic of Korea. Tel.: +82 64 754 8157; Fax: +82 64 717 1849; E-mail: [email protected].

Abstract: Background:Apolipoprotein E (APOE) ɛ4 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 ɛ4 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 ɛ4 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.

Keywords: Alzheimer’s disease, apolipoprotein genetic testing, odds ratio, sensitivity, specificity

DOI: 10.3233/JAD-190983

Journal: Journal of Alzheimer's Disease, vol. 74, no. 4, pp. 1253-1260, 2020