Cited by 7Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatmentsPalliative Care and End-of-Life Issues

Patients asking about APOE gene test results? Here’s what to tell them

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Stites·2022·The Journal of Family Practice

Abstract

This guidance can help shape the conversations you have with patients who want to understand the results of their gene and biomarker testing for Alzheimer disease.

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Crossref · 10.12788/jfp.0397

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  • The lifetime risk up to age 80-85 years for mild cognitive impairment or dementia owing to Alzheimer disease has been estimated as 30-55% for APOEε4 homozygotes, 20-25% for APOEε3/ε4 carriers and 10-15% for APOEε3 homozygotes according to population-based studies with a majority of individuals of European ancestry.

    “the lifetime risk up to age 80–85 years for mild cognitive impairment or dementia owing to AD has been estimated as 30–55% for APOEε4 homozygotes, 20–25% for APOEε3/ε4 carriers and 10–15% for APOEε3 homozygotes according to population-based studies with a majority of individuals of European ancestry17,18.”

    From Multifaceted roles of APOE in Alzheimer disease (2024) · cites this paper as [18]

    Table 1 gives all three stated lifetime-risk ranges for MCI or dementia due to Alzheimer disease. Vignette 1 says the estimates are averaged across large population cohorts, and the discussion of sample diversity says most underlying data come from largely White samples. Our copy does not specify that these ranges measure risk up to age 80–85, so that age limit is unsupported. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

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Cites

1 retracted

Flagged first, then by citations

Research works printed but not linked: 22

  1. Langlois CM, Bradbury A, Wood EM, et al. Alzheimer's Preven- tion Initiative Generation Program: development of an APOE ge- netic counseling and disclosure process in the context of clinical trials. Alzheimers Dement Transl Res Clin Interv. 2019;5:705-716. doi: 10.1016/j.trci.2019.09.013 · DOI
  2. Frank L, Wesson Ashford J, Bayley PJ, et al. Genetic risk of Al- zheimer's disease: three wishes now that the genie is out of the bottle. J Alzheimers Dis. 2018;66:421-423. doi: 10.3233/ JAD-180629 · DOI
  3. Sperling RA, Jack CR, Black SE, et al. Amyloid-related imaging ab- normalities in amyloid-modifying therapeutic trials: recommen- dations from the Alzheimer's Association Research Roundtable Workgroup. Alzheimers Dement. 2011;7:367-385. doi: 10.1016/ j.jalz.2011.05.2351 · DOI · Paper page
  4. Cummings J. Why aducanumab is important. Nat Med. 2021;27:1498-1498. doi: 10.1038/s41591-021-01478-4 · DOI
  5. Mullard A. More Alzheimer's drugs head for FDA review: what scientists are watching. Nature. 2021;599:544-545. doi: 10.1038/ d41586-021-03410-9 · DOI
  6. Rosenberg A, Mangialasche F, Ngandu T, et al. Multidomain interventions to prevent cognitive impairment, Alzheimer's dis- ease, and dementia: from finger to world-wide fingers. J Prev Al- zheimers Dis. 2019:1-8. doi: 10.14283/jpad.2019.41 · DOI · Paper page
  7. FDA. Commissioner of the FDA allows marketing of first direct-to- consumer tests that provide genetic risk information for certain conditions. Published March 24, 2020. Accessed November 7, 2020. www.fda.gov/news-events/press-announcements/fda- allows-marketing-first-direct-consumer-tests-provide-genetic- risk-information-certain-conditions 12. Blell M, Hunter MA. Direct-to-consumer genetic testing's red her- ring: "genetic ancestry" and personalized medicine. Front Med. 2019;6:48. doi: 10.3389/fmed.2019.00048 · DOI
  8. Ekstrand B, Scheers N, Rasmussen MK, et al. Brain foods -the role of diet in brain performance and health. Nutr Rev. 2021;79: 693-708. doi: 10.1093/nutrit/nuaa091 · DOI
  9. Cherian L, Wang Y, Fakuda K, et al. Mediterranean-Dash Inter- vention for Neurodegenerative Delay (MIND) diet slows cogni- tive decline after stroke. J Prev Alzheimers Dis. 2019;6:267-273. doi: 10.14283/jpad.2019.28 · DOI
  10. Barnes LL, Bennett DA. Cognitive resilience in APOE*ε4 car- riers-is race important? Nat Rev Neurol. 2015;11:190-191. doi: 10.1038/nrneurol.2015.38 · DOI
  11. Farrer LA. Effects of age, sex, and ethnicity on the associa- tion between apolipoprotein E genotype and Alzheimer dis- ease: a meta-analysis. JAMA. 1997;278:1349. doi: 10.1001/ jama.1997.03550160069041 · DOI · Paper page
  12. Evans DA, Bennett DA, Wilson RS, et al. Incidence of Alzheimer disease in a biracial urban community: relation to apolipo- protein E allele status. Arch Neurol. 2003;60:185. doi: 10.1001/ archneur.60.2.185 · DOI · Paper page
  13. Chung WW, Chen CA, Cupples LA, et al. A new scale measuring psychologic impact of genetic susceptibility testing for Alzheimer disease. Alzheimer Dis Assoc Disord. 2009;23:50-56. doi: 10.1097/ WAD.0b013e318188429e · DOI
  14. Yesavage JA, Sheikh JI. 9/Geriatric Depression Scale (GDS): re- cent evidence and development of a shorter version. Clin Geron- tol. 1986;5:165-173. doi: 10.1300/J018v05n01_09 · DOI
  15. Green RC, Roberts JS, Cupples LA, et al. Disclosure of APOE genotype for risk of Alzheimer's disease. N Engl J Med. 2009;361: 245-254. doi: 10.1056/NEJMoa0809578 · DOI · Paper page
  16. Lineweaver TT, Bondi MW, Galasko D, et al. Effect of knowledge of APOE genotype on subjective and objective memory perfor- mance in healthy older adults. Am J Psychiatry. 2014;171:201-208. doi: 10.1176/appi.ajp.2013.12121590 · DOI
  17. Karlawish J. Understanding the impact of learning an amy- loid PET scan result: preliminary findings from the SOKRATES study. Alzheimers Dement J Alzheimers Assoc. 2016;12:P325. doi: 10.1016/j.jalz.2016.06.594 · DOI
  18. Stites SD. Cognitively healthy individuals want to know their risk for Alzheimer's disease: what should we do? J Alzheimers Dis. 2018;62:499-502. doi: 10.3233/JAD-171089 · DOI
  19. Milne S, Lomax C, Freeston MH. A review of the relationship be- tween intolerance of uncertainty and threat appraisal in anxiety. Cogn Behav Ther. 2019;12:e38. doi: 10.1017/S1754470X19000230 · DOI
  20. Stites SD, Karlawish, J. Stigma of Alzheimer's disease demen- tia: considerations for practice. Pract Neurol. Published June 2018. Accessed January 31, 2019. http://practicalneurology. com/2018/06/stigma-of-alzheimers-disease-dementia/ 31. Solomon A, Turunen H, Ngandu T, et al. Effect of the apolipoprotein E genotype on cognitive change during a multidomain lifestyle intervention: a subgroup analysis of a randomized clinical trial. JAMA Neurol. 2018;75:462. doi: 10.1001/jamaneurol.2017.4365 · DOI · Paper page
  21. Musunuru K, Hershberger RE, Day SM, et al. Genetic testing for inherited cardiovascular diseases: a Scientific Statement from the American Heart Association. Circ Genom Precis Med. 2020;13: e000067. doi: 10.1161/HCG.0000000000000067 · DOI
  22. Margaglione M, Seripa D, Gravina C, et al. Prevalence of apoli- poprotein E alleles in healthy subjects and survivors of ischemic stroke. Stroke. 1998;29:399-403. doi: 10.1161/01.STR.29.2.399 · DOI

Cited by

Sorted by citations

Authors
Stites
Affiliations
University of Wisconsin System (US)
Corresponding author
Stites
Venue
The Journal of Family Practice
Published
2022-05
Volume
71
Issue
4
Pages
E1-E7
ISSN
0094-3509 (ISSN-L)
OpenAlex
W4280636312
Cited by
7
References
8
Citations by year
2026: 2 · 2025: 1 · 2024: 2 · 2023: 1 · 2022: 1
FWCI
0.81
Type
journal article
Language
en
Open access
Locations
  • The Journal of Family Practice (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • IUScholarWorks (Indiana University) (submittedVersion)
Funders
  • Alzheimer's Association (K23AG065442, AARF-17-528934)
  • National Institute on Aging (K23AG065442, P30AG036468, F30AG059346, P30AG072979, P30AG062421)
  • National Institute of General Medical Sciences (T32GM140935)
Topics
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Palliative Care and End-of-Life Issues
Keywords
Alzheimer's disease, genetic testing, biomarker testing, patient communication, test result interpretation
MeSH terms
Apolipoproteins E, Humans

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