Genetic Testing for Alzheimer's Disease: Trends, Challenges and Ethical Considerations

Miguel E. Rentería; Brittany L. Mitchell; Amaranta Manrique de Lara

Disclosures

Curr Opin Psychiatry. 2020;33(2):136-140. 

In This Article

Abstract and Introduction

Abstract

Purpose of review: Advances in personal genomics have made predictive genetic testing increasingly popular. The purpose of this review is to examine and summarize recent literature regarding the ethical concerns and considerations surrounding genetic testing for Alzheimer's disease.

Recent findings: Four basic bioethical principles can be applied in the context of genetic testing: autonomy, nonmaleficence, beneficence and justice. The concepts of clinical validity, clinical utility and personal utility are also necessary for the ethical deliberation of genetic testing for Alzheimer's disease. Ethical considerations can differ among three distinct settings present in the literature: research, clinical and direct-to-consumer services. Studies have found that the negative psychosocial impact of genetic test results on the individual is limited, but emphasize the importance of pre/posttesting genetic counselling.

Summary: The literature should ideally inform policy-making around genetic testing. There exists an urgent need for regulation, particularly in the direct-to-consumer (DTC) market, since interest for testing in this context is rapidly growing. Standardized protocols for disclosure should be developed, and there is a need to find ways to meet the growing need for genetic counselling. Importantly, comprehensive, evidence-based regulation requires that research be conducted in different contexts with more diverse participants.

Introduction

Alzheimer's disease has a substantial genetic component, accounting for between 50 and 75% of individual risk.[1] Late-onset Alzheimer's disease (LOAD), which accounts for ~95% of cases, results from the cumulative effects of multiple gene variants and their interaction with environmental exposures.[1] The most significant genetic risk factor for LOAD is the Apolipoprotein E (APOE) ε4 allele, with ~47% of heterozygous and ~91% of homozygous carriers developing Alzheimer's disease.[1]

There is a growing interest in predictive tests for Alzheimer's disease. According to Milne et al.,[2] between 50 and 90% of individuals, increasingly younger, science-conscious individuals, show interest in getting tested. However, concerns regarding the accuracy and utility of such tests, their regulation and the potential ethical issues that stem from disseminating such genetic information have been raised.[3] In this review, we explore recent studies surrounding the ethical aspects of genetic testing in Alzheimer's disease, its impact on the individual, disclosure of results, the importance of genetic counselling and the need for standardized protocols and regulations.

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