Genetic Testing for Risk of Alzheimer’s Disease: Benefit Or burden?

Abstract

141 ISSN 1758-2024 10.2217/NMT.12.9 © 2012 Future Medicine Ltd Neurodegen. Dis. Manage. (2012) 2(2), 141–144 Genetic testing for the risk of Alzheimer’s disease (AD) using APOE genotyping has been discouraged owing to its limited predictive value, a lack of AD treatment options and concerns about psychosocial harms (e.g., psychological distress, genetic discrimination). However, extant studies on the psychological and behavioral impact of APOE testing on asymptomatic individuals suggest that such harms are rare and modest, and may be outweighed by various benefits that at-risk indivi duals report as responses to test results (e.g., informing advanced planning and health behavior change). This editorial suggests reasons why the medical community may wish to reconsider a rigid stance against the disclosure of APOE information to interested indivi duals, and describes the opportunities and challenges involved in expanding access to this type of testing. The proper uses of genetic testing for risk of AD have been debated since the mid-1990s, when it was discovered that the e4 allele of the APOE gene confers a significantly elevated risk of disease. Several expert consensus statements, at the time, cautioned against the clinical use of APOE testing with asymptomatic individuals, citing the test’s limited predictive value (the e4 allele is neither necessary nor sufficient to cause AD), a lack of proven treatment and prevention options and concerns about potential psycho logical and social harms posed by test results [1]. An updated consensus statement from the American College of Medical Genetics and the National Society of Genetic Counselors continued to advise against the use of APOE testing for clinical purposes, although it allowed that in certain cases, “testing may be considered at the clinician’s discretion” [2]. Although these policy statements have sensible rationales and are provided with patient welfare in mind, I would argue that there are numerous reasons why we may want to reconsider a highly rigid stance against the disclosure of APOE genotype information by a qualified provider. First, the supposed psychological harms of risk information alluded to in initial policy statements have not materialized, at least when disclosure of APOE test results is conducted in a controlled research setting by expert clinicians. We have examined