Date of Award

8-16-2024

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Caroline Cofsky

Abstract

The APOE ε4 allele is the best-known genetic risk factor for developing late-onset Alzheimer’s disease. Although new evidence is emerging, the extent to which lifestyle improvements can reduce Alzheimer’s risk needs further investigation. Research suggests that individuals with a higher genetic risk may be more likely to engage in risk-reducing health behavior changes following results disclosure. This study aimed to better understand these findings by assessing the health behavior and perceptions of Alzheimer’s actionability among consumers of DTC genetic tests. Our study revealed that individuals with 2 copies of the APOE ε4 allele were less likely to make lifestyle modifications as compared to individuals with 1 copy of the allele (p=.015, Fisher's exact test). Furthermore, there was a nonsignificant trend towards lower perceived actionability among individuals with 2 copies of the APOE ε4 allele compared to those with 1 copy. Ultimately, our results appear to reflect a sense of genetic determinism among our highest-risk cohort, whereby a reduced sense of actionability or control regarding disease development translates into a reluctance to modify lifestyle factors. More research is needed to understand the different responses among our genotype groups, and how a genetic deterministic mindset may serve as an adaptation to a high risk for late onset Alzheimer's disease. Our study did identify that the decision to make lifestyle changes is largely driven by family history (p=.027). This finding has been demonstrated broadly in the literature, suggesting that an individual’s personal health context is a more reliable predictor of post-test lifestyle modifications than genotype. The results of our study may have important implications for genetic counselors when discussing results interpretation and integration of genetic test results.

Rights

© 2024, Emily Mason

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