Disclosing Genetic Risk of Alzheimer’s Disease to Cognitively Unimpaired Older Adults: Findings from the Study of Knowledge and Reactions to APOE Testing (SOKRATES II)

Article type: Research Article

Authors: Largent, Emily A.^{a; *} | Bhardwaj, Twisha^b | Abera, Maramawit^c | Stites, Shana D.^d | Harkins, Kristin^c | Lerner, Alan J.^e | Bradbury, Angela R.^{a; c} | Karlawish, Jason^{a; c; f}

Affiliations: [a] Department of Medical Ethics and Health Policy, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA | [b] Dartmouth College, Hanover, NH, USA | [c] Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA | [d] Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA | [e] Brain Health and Memory Center, University Hospitals Cleveland Medical Center, Cleveland, OH, USA | [f] Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

Correspondence: [*] Correspondence to: Emily A. Largent, JD, PhD, RN, 423 Guardian Drive, Room 1403, Philadelphia, PA 19104, USA. Tel.: 215 573 8106; E-mail: [email protected].

Abstract: Background: Current practice guidelines recommend against Apolipoprotein E (APOE) testing. However, advances in Alzheimer’s disease (AD) research and care may soon change this. Objective: To examine longitudinally the experience of learning an APOE result and, if an ɛ4 carrier, taking a disease-specific treatment to reduce one’s risk of AD. Methods: Fifty ɛ4 carriers and 20 non-carriers completed semi-structured interviews 3 months and 15 months after APOE disclosure. Results: Individuals generally understand their APOE results. While non-carriers felt relief, ɛ4 carriers often described themselves as disappointed by their result but nevertheless glad to know. Carriers expressed concerns about stigma and discrimination, including in the workplace. Carriers adopted new health behaviors at higher rates than non-carriers and revised their future plans to account for their increased risk of AD. Individuals participating in research were hopeful that their participation would help them or others; individuals who learned they were at increased risk for AD but who could not participate in research were disappointed. Conclusion: Providers disclosing APOE results should be sensitive to how APOE results shape emotions, self-perceptions, and attitudes about memory; raise concerns about stigma and discrimination in personal and professional relationships; influence health behaviors and decision-making; and can have follow-on effects on family members.

Keywords: Amyloid, apolipoprotein E, dementia, genetic counseling, genetic testing, risk

DOI: 10.3233/JAD-210675

Journal: Journal of Alzheimer's Disease, vol. 84, no. 3, pp. 1015-1028, 2021