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“Well, good luck with that”: reactions to learning of increased genetic risk for Alzheimer disease



Apolipoprotein-E (APOE) genetic testing to estimate risk for developing late-onset Alzheimer disease is increasingly being offered without prior genetic counseling or preparation. Consumer interest continues to grow, raising the question of how best to conduct such testing.


Twenty-six semistructured interviews were carried out to study the reactions of individuals who had already learned of their higher risk after APOE testing had been done because of a family history of Alzheimer disease, or from genetic tests done for other health-related or general-interest reasons.


Adverse psychological reactions were reported by a substantial fraction of the participants, including those who had specifically sought testing, those for whom the information came as a surprise, those with a family history, and those with no known history. Still, nearly all of those interviewed said that they had benefited in the long term from lifestyle changes, often learned from online sources, that they subsequently made.


The results show that people should be prepared prior to any genetic testing and allowed to opt out of particular tests. If testing is carried out and a higher risk is revealed, they should be actively assisted in deciding how to proceed.

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  1. 1

    Corder EH, Saunders AM, Strittmatter WJ et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science 1993;261:921–923.

  2. 2

    Breitner JC, Wyse BW, Anthony JC et al. APOE-e4 count predicts age when prevalence of AD increases, then declines: the Cache County Study. J Neurol 1999;53:321–331.

  3. 3

    Christensen KD, Roberts JS, Royal CD et al. Incorporating ethnicity into genetic assessment for Alzheimer’s disease: the REVEAL study experience. Genet Med 2008;10:207–214.

  4. 4

    Seshadri S & Wolf PA. Lifetime risk of stroke and dementia: current concepts, and estimates from the Framingham Study. Lancet Neurol 2007;6:1106–1114.

  5. 5

    Bird TDAlzheimer disease overview. In: Pagon RA, Adam MP, Ardinger HH et al(eds). GeneReviews. University of Washington: Seattle, WA, 23 October 1998. Updated 24 September 2015.

  6. 6

    American College of Medical Genetics, American Society of Human Genetics Working Group on ApoE and Alzheimer Disease. Statement on the use of Apolipoprotein E testing for Alzheimer disease. JAMA 1995;274:1627–1629.

  7. 7

    Medical and Scientific Advisory Committee and Alzheimer’s Disease International. Consensus statement on genetic testing for Alzheimer disease. Alzheimer Dis Assoc Disord 1995;9:182–87.

  8. 8

    National Institute on Aging and Alzheimer’s Association Working Group. Apolipoprotein E genotyping in Alzheimer disease. Lancet 1996;347:1091–1095.

  9. 9

    Choosing Wisely. ACMG Provides Recommendations on Genetic Testing Through the Choosing Wisely® Campaign. 10 July 2015. Accessed 12 January 2018.

  10. 10

    Grosse SD, McBride CM, Evans JP et al. Personal utility and genomic information: look before you leap. Genet Med 2009;11:575–576.

  11. 11

    Zallen DT. To Test or Not to Test: A Consumer’s Guide to Genetic Screening and Risk. Rutgers University Press: New Brunswick, NJ, 2008: 73–107.

  12. 12

    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.

  13. 13

    Roberts JS, Christensen KD & Green RC. Using Alzheimer’s disease as a model for genetic risk disclosure: implications for personal genomics. Clin Genet 2011;80:407–414.

  14. 14

    Hyejin K, Sefcik JS & Bradway C. Characteristics of qualitative descriptive studies: a systemic review. Res Nurs Health 2017;40:23–42.

  15. 15

    Neergaard MA, Olesen F, Andersen RS & Sondergaard J. Qualitative description—the poor cousin of health research? BMC Med Res Methodol 2009;9:52.

  16. 16

    Huynh RA & Mohan C. Alzheimer’s disease: biomarkers in the genome, blood, and cerebrospinal fluid. Front Neurol 2017;8:102–116.

  17. 17

    Eckert SL, Katzen H, Roberts JS et al. Recall of disclosed apolipoprotein E genotype and lifetime risk estimate for Alzheimer’s disease: the REVEAL study. Genet Med 2006;8:746–751.

  18. 18

    Lock M, Freeman J, Chilibeck G et al. Susceptibility genes and the question of embodied identity. Med Anthropol Q 2007;21:256–276.

  19. 19

    National Society of Genetic Counselors, Genetic testing of minors for adult-onset conditions. 15 February 2017. Accessed 12 January 2018.

  20. 20

    Re/code Decode hosted by Kara Swisher. Interview with Anne Wojcicki released 3 April 2016. Accessed 12 January 2018.

  21. 21

    US Food and Drug Administration. FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions. 6 April 6 2017. Accessed 12 January 2018.

  22. 22

    Quaid KA & Morris M. Reluctance to undergo predictive testing: the case of Huntington disease. Am J Med Genet 1995;45:41–45.

  23. 23

    Zallen DT. Does it Run in the Family? A Consumer’s Guide to DNA Testing for Genetic Disorders. Rutgers University Press: New Brunswick, NJ, 2008.

  24. 24

    Huntington’s Disease Society of America. Genetic testing protocol for Huntington’s disease. 2016. Accessed 12 January 2018.

  25. 25

    American Society of Clinical Oncology. Policy statement update: genetic testing for cancer susceptibility. J. Clin Oncol. 2003;21:2397–406.

  26. 26

    Goldman JS, Hahn SE, Williamson Catania J et al. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med 2011;13:597–605.

  27. 27

    Klitzman R, Chung W, Marder K et al. Attitudes and practices among internists concerning genetic testing. J Genet Counsel 2013;22:90–100.

  28. 28

    Feero WG & Green ED. Genomics education for health care professionals in the 21st century. JAMA 2011;306:989–990.

  29. 29

    Stacey D, Légaré F, Lewis K et al. Decision aids for people facing health treatment or screening decisions. Cochrane Database Syst Rev 2017;Issue 4. Art. no.: CD001431 doi:doi:10.1002/14651858.CD001431.pub5.

  30. 30

    Ekstract M, Holtzman GI, Kim KY et al. Evaluation of a Web-based decision aid for people considering the APOE genetic test for Alzheimer risk. Genet Med 2017;19:676–682.

  31. 31

    Baumgart M, Snyder HM, Carrillo MC, et al. Summary of the evidence on modifiable risk factors for cognitive decline and dementia: a population n-based perspective. Alzheimers Dement 2015;11:718–726.

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This study was supported in part by the Department of Science, Technology, and Society at Virginia Tech.

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The author declares no conflict of interest.

Correspondence to Doris T Zallen PhD.

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  • APOE
  • Alzheimer disease
  • genetic testing
  • psychological reaction
  • health-behavior modification