Estimating and disclosing the risk of developing Alzheimers disease: Challenges, controversies and future directions

Department of Health Behavior & Health Education, University of Michigan School of Public Health, 1415 Washington Heights, Ann Arbor, MI 48109, USA.
Future Neurology 07/2010; 5(4):501-517. DOI: 10.2217/fnl.10.31
Source: PubMed


With Alzheimer's disease increasing in prevalence and public awareness, more people are becoming interested in learning their chances of developing this condition. Disclosing Alzheimer's disease risk has been discouraged because of the limited predictive value of available tests, lack of prevention and treatment options, and concerns regarding potential psychological and social harms. However, challenges to this status quo include the availability of direct-to-consumer health risk information (e.g., genetic susceptibility tests), as well as a growing literature suggesting that people seeking risk information for Alzheimer's disease through formal education and counseling protocols generally find it useful and do not experience adverse effects. This paper reviews current and potential methods of risk assessment for Alzheimer's disease, discusses the process and impact of disclosing risk to interested patients and consumers, and considers the practical and ethical challenges in this emerging area. Anticipated future directions are addressed.

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Available from: J. Scott Roberts, Oct 06, 2015
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    • "Limitations in test sensitivity and specificity coupled with the lack of treatment options for the disorder have prompted concerns about introducing this type of genetic testing for AD into clinical practice (AGSEC 2001; Farrer et al. 1995a; McConnell et al. 1998; NIA et al. 1996; Post et al. 1997). However, predictive testing is already available for families with rare early-onset forms of AD (Lennox et al. 1994) and susceptibility testing, along with predictive testing using neuroimaging results and other biomarkers, may one day become a viable option for the millions of first-degree relatives of patients with AD who are at increased risk for developing this disease (Roberts and Tersegno 2010). There is some evidence that the incidence of AD, the impact of risk factors causing the disease, and the impact of family history may differ between African Americans and Whites (Farrer et al. 1997; Gurland et al. 1999; Tang et al. 1998, 2001). "
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    ABSTRACT: Genetic susceptibility testing for common diseases is expanding, but little is known about race group differences in test perceptions. The purpose of this study was to examine differences between African Americans and Whites in knowledge, attitudes, and motivations regarding genetic susceptibility testing for Alzheimer's disease (AD). Before enrolling in an AD genetic testing research trial, 313 first-degree relatives of AD patients (20% African American; 71% female; mean age = 58 years) were surveyed regarding: (1) knowledge about genetics and AD risk; (2) concerns about developing AD; and (3) reasons for seeking testing. In comparison to Whites, African Americans were less knowledgeable about genetics and AD risk (p < .01) and less concerned about developing AD (p < .05), with lower levels of perceived disease risk (p = .04). The results suggest that African Americans and Whites differ notably in their knowledge, beliefs, and attitudes regarding genetic testing for AD. Additional research with more representative samples is needed to better understand these differences.
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    ABSTRACT: The development of disease concepts for conditions such as Alzheimer's disease (AD) is an ongoing social process that evolves over time. The biomedical paradigm about AD that has informed our culture's understanding of brain aging for the past several decades is currently undergoing a major and timely renovation in the early 21st century. This evolution is reflected in new guidelines issued by the National Institute on Aging and Alzheimer's Association (NIA/AA) for the diagnosis of AD and related conditions that aim at helping researchers identify and eventually treat AD in its presymptomatic stages. The purpose of this article is to offer the scientific, clinical, and ethics communities a critical analysis of the implications of proposed guidelines and prompt deeper reflection about the lessons learned from these new efforts both in terms of their actual content and the cultural context in which they were issued and will be used. From a social-constructivist perspective, we explore the gradual 100-year evolution of AD and summarize the proposed NIA/AA guidelines within this historical context, enumerating what we see as their main benefits and limitations. We then consider the potential implications of these guidelines in the clinical setting, and explore shifts in our cultural paradigm about brain aging that might be engendered by the logic of the guidelines. © 2012 © The Author 2012. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: [email protected] /* */
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