Changes to perceptions of the pros and cons of genetic susceptibility testing after APOE genotyping for Alzheimer disease risk

Department of Health Behavior and Health Education, University of Michigan School of Public Health, University of Michigan, Ann Arbor, Michigan 48109-2029, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 7.33). 01/2011; 13(5):409-14. DOI: 10.1097/GIM.0b013e3182076bf1
Source: PubMed


Perceptions about the pros and cons of genetic susceptibility testing are among the best predictors of test utilization. How actual testing changes such perceptions has yet to be examined.
In a clinical trial, first-degree relatives of patients with Alzheimer disease received genetic risk assessments for Alzheimer disease including APOE disclosure. Participants rated 11 possible benefits associated with genetic testing (pros) and 10 risks or limitations (cons) before genetic risk disclosure and again 12 months afterward.
Pros were rated higher than cons at baseline (3.53 vs. 1.83, P < 0.001) and at 12 months after risk disclosure (3.33 vs. 1.88, P < 0.001). Ratings of pros decreased during the 12-month period (3.33 vs. 3.53, P < 0.001). Ratings of cons did not change (1.88 vs. 1.83, P = 0.199) except for a three-item discrimination subscale which increased (2.07 vs. 1.92, P = 0.012). Among specific pros and cons, three items related to prevention and treatment changed the most.
The process of APOE genetic risk assessment for Alzheimer disease sensitizes some to its limitations and the risks of discrimination; however, 1-year after disclosure, test recipients still consider the pros to strongly outweigh the cons.

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    • "In this study, we expected that measures of perceived risk would positively predict interest in testing, whereas measures of disease severity, including knowing the disease was fatal, would inversely predict interest [17-19]. Previous work also suggests that perceived benefits, such as enhanced planning and decision-making abilities around future care options, predict interest in testing, whereas perceived costs, such as lack of treatment, depress interest and uptake [20-22]. "
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    ABSTRACT: Research is underway to develop an early medical test for Alzheimer's disease (AD). To evaluate potential demand for such a test, we conducted a cross-sectional telephone survey of 2,678 randomly selected adults across the United States and four European countries. Most surveyed adults (67%) reported that they are "somewhat" or "very likely" to get an early medical test if one becomes available in the future. Interest was higher among those worried about developing AD, those with an immediate blood relative with AD, and those who have served as caregivers for AD patients. Older respondents and those living in Spain and Poland also exhibited greater interest in testing. Knowing AD is a fatal condition did not influence demand for testing, except among those with an immediate blood relative with the disease. Potential demand for early medical testing for AD could be high. A predictive test could not only advance medical research, it could transform political and legal landscapes by creating a large constituency of asymptomatic, diagnosed adults. Key words: Alzheimer's disease, medical testing, predictive testing, medical decision-making, public attitudes, preclinical.
    Alzheimer's Research and Therapy 09/2013; 5(5):43. DOI:10.1186/alzrt206 · 3.98 Impact Factor
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    • "Prospective n = 518 N/A Knowledge and interest of APOE testing REVEAL I/ United States Cassidy et al. (2008) RCT/prospective n = 123 12 months Distress REVEAL I/ United States Chao et al. (2008) RCT/prospective n = 147 12 months Changes to diet, exercise, medication/vitamins REVEAL II/ United States Christensen et al. (2011) RCT/prospective n = "
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    ABSTRACT: Alzheimer disease (AD) is a genetically heterogenous disorder; in rare cases autosomal dominantly inherited mutations typically cause early-onset familial AD (EOAD), whereas the risk for late-onset AD (LOAD) is generally modulated by genetic variants with relatively low penetrance but high prevalence, with variants in apolipoprotein E (APOE) being a firmly established risk factor. This article presents an overview of the current literature on the psychological and behavioral impact of genetic testing for AD. The few studies available for presymptomatic testing for EOAD showed that only a very small proportion of individuals had poor psychological outcomes as a result. Initial interest in testing for EOAD decreases significantly after identification of a specific mutation in a kindred, suggesting that interest and potential for knowledge may not translate into actual testing uptake. The majority of individuals from both the general population and those with a family history of AD had positive attitudes towards, and were interested in, susceptibility testing for APOE. Motivations for genetic testing included to provide information for future planning and to learn about one's own and one's children's risks of developing AD. Although susceptibility testing for APOE genotype is not currently recommended due to the lack of clinical utility, this review demonstrates that there is interest in testing and no obvious adverse psychological effects to those who have been tested.
    Genetic Testing and Molecular Biomarkers 06/2012; 16(8):935-42. DOI:10.1089/gtmb.2011.0300 · 1.46 Impact Factor
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    ABSTRACT: Susceptibility testing for common, complex adult-onset diseases is projected to become more commonplace as the rapid pace of genomic discoveries continues, and evidence regarding the potential benefits and harms of such testing is needed to inform medical practice and health policy. Apolipoprotein E (APOE) testing for risk of Alzheimer's disease (AD) provides a paradigm in which to examine the process and impact of disclosing genetic susceptibility for a prevalent, severe and incurable neurological condition. This review summarizes findings from a series of multi-site randomized clinical trials examining psychological and behavioral responses to various methods of genetic risk assessment for AD using APOE disclosure. We discuss challenges involved in disease risk estimation and communication and the extent to which participants comprehend and perceive utility in their genetic risk information. Findings on the psychological impact of test results are presented (e.g. distress), along with data on participants' health behavior and insurance purchasing responses (e.g. long-term care). Finally, we report comparisons of the safety and efficacy of intensive genetic counseling approaches to briefer models that emphasize streamlined processes and educational materials. The implications of these findings for the emerging field of personal genomics are discussed, with directions identified for future research.
    Clinical Genetics 06/2011; 80(5):407-14. DOI:10.1111/j.1399-0004.2011.01739.x · 3.93 Impact Factor
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