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)

Abstract

Background: Current practice guidelines recommend against Apolipoprotein E (APOE) testing. However, advances in Alzheimer’s disease (AD) research 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.

Factors influencing the participation of Black and White Americans in Alzheimer's disease biomarker research

“…Previous studies on disclosure of genetic risks in research studies have focused almost exclusively on White participants. 31 , 32 Our findings add the perspectives of Black participants to this important discussion. Our findings also show that disclosure of research test results is a critical issue that may impact active participants’ retention and participation in future studies.…”

“… 33 Researchers have raised concerns regarding the potential psychological impact of disclosure, particularly for those receiving news of increased AD risk in the absence of a broadly available disease‐modifying treatment. However, some studies also suggest that the risk of psychological harm is relatively low, especially with the provision of genetic counseling, 29 , 30 , 32 , 33 and efforts are underway to optimize disclosure protocols for dementia risks to research participants. 34 Although our findings indicate some support for sharing research test results with study participants, they also point to emerging views about the type of data participants want disclosed, such as both normal and abnormal results as well as non‐genetic test results.…”

Factors influencing Blacks and Whites’ participation in Alzheimer’s disease biomarker research

“…Researchers have raised concerns regarding the potential psychological impact of disclosure, particularly for those receiving news of increased AD risk in the absence of a broadly available disease-modifying treatment. However, some studies also suggest that the risk of psychological harm is relatively low, especially with the provision of genetic counseling (30, 31, 33, 34), and efforts are underway to optimize disclosure protocols for dementia risks to research participants (32). While our findings indicate some support for sharing research test results with study participants, they also point to emerging views about the type of data participants want disclosed, such as both normal and abnormal results as well as non-genetic test results.…”

“…These findings are noteworthy for several reasons. Previous studies on disclosure of genetic risks in research studies have focused almost exclusively on White participants (29, 30). Our findings add the perspectives of Black participants to this important discussion.…”

Disclosure of Genetic Risk Factors for Alzheimer’s Disease to Cognitively Healthy Individuals—From Current Practice towards a Personalised Medicine Scenario

“…Recent data on safety come from APOE genotype disclosure in the context of AD preventive clinical trials [ 55 ] and research registries [ 40 ]. A study in community-dwelling older adults from the Butler Alzheimer’s Prevention Registry showed no differences between e4 carriers and non-carriers on measures of depression or anxiety, but higher—even if subclinical—measures of stress in e4 carriers relative to non-carriers [ 40 ].…”