Emotional Responses to APO E Genotype Disclosure for Alzheimer Disease

Department of Family Medicine, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, 87131, USA.
Journal of Genetic Counseling (Impact Factor: 2.24). 05/2005; 14(2):141-50. DOI: 10.1007/s10897-005-4063-1
Source: PubMed


The purpose of our study is to assess the emotional responses to disclosing APO E genotype to asymptomatic older adults at increased risk for Alzheimer disease (AD). This is a longitudinal cohort study of volunteer subjects who were aged 50 years or over, asymptomatic for (AD), had a family history of AD, passed a psychological assessment, and participated in pre- and post-test genetic counseling and three follow-up visits over 10 months. We analyzed responses by three emotional constructs: depressed, worried, and relieved. Three hundred and twenty-eight subjects were screened, 76 received their APO E genotype. When emotional responses occurred it was immediate, between baseline and the 1 month follow-up. Emotional reactions did not change significantly past 1 month. Our results suggest that for emotionally stable persons, disclosing results of their APO E genotype, high risk subjects did not report more depression or worry and low risk subjects felt relieved by knowing the results. Future studies should evaluate the risks of disclosure to family members involved in the diagnostic work-up of a relative and include subjects from a broader range of emotional stability and socioeconomic background.

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    • "Even though the majority of people who were tested experienced no measurable adverse psychological effects, the available studies show that a small percentage (about 10%) of individuals experience adverse psychological outcomes that are of clinical significance following APOE testing (Romero et al., 2005; Ashida et al., 2010). No data are available on the psychological risk factors for the development of distress specifically in this population; research should be prioritized to help identify individuals most at risk of negative outcomes and to plan appropriate interventions. "
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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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    • "Contrary to previous belief, the identification of AD genetic risk factors that may be triggered by environmental factors does not result in increased worrying and depression (Romero et al. 2005). Genetic testing for multiple CVD risk factors in conjunction with nutrition and cognitive assessment may empower patients to take the necessary steps to improve their health. "
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    ABSTRACT: Chronic, multi-factorial conditions caused by a complex interaction between genetic and environmental risk factors frequently share common disease mechanisms, as evidenced by an overlap between genetic risk factors for cardiovascular disease (CVD) and Alzheimer's disease (AD). Single nucleotide polymorphisms (SNPs) in several genes including ApoE, MTHFR, HFE and FTO are known to increase the risk of both conditions. The E4 allele of the ApoE polymorphism is the most extensively studied risk factor for AD and increases the risk of coronary heart disease by approximately 40%. It furthermore displays differential therapeutic responses with use of cholesterol-lowering statins and acetylcholinesterase inhibitors, which may also be due to variation in the CYP2D6 gene in some patients. Disease expression may be triggered by gene-environment interaction causing conversion of minor metabolic abnormalities into major brain disease due to cumulative risk. A growing body of evidence supports the assessment and treatment of CVD risk factors in midlife as a preventable cause of cognitive decline, morbidity and mortality in old age. In this review, the concept of pathology supported genetic testing (PSGT) for CVD is described in this context. PSGT combines DNA testing with biochemical measurements to determine gene expression and to monitor response to treatment. The aim is to diagnose treatable disease subtypes of complex disorders, facilitate prevention of cumulative risk and formulate intervention strategies guided from the genetic background. CVD provides a model to address the lifestyle link in most chronic diseases with a genetic component. Similar preventative measures would apply for optimisation of heart and brain health.
    Metabolic Brain Disease 04/2012; 27(3):255-66. DOI:10.1007/s11011-012-9296-8 · 2.64 Impact Factor
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    • "This study also reported no increase in depression or anxiety symptoms, with both e4 carriers and noncarriers reporting the same or lower levels of anxiety about AD following risk disclosure. Romero and colleagues (2005) also reported that subjects at higher risk for AD did not report more depression or worry following genetic disclosure, and low-risk subjects felt relieved, although the study did exclude emotionally unstable subjects. "
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    ABSTRACT: Many years before receiving a clinical diagnosis of Alzheimer's disease (AD), patients experience evidence of cognitive decline. Recent studies using a variety of brain imaging technologies have detected subtle changes in brain structure and function in normal adults with a genetic risk for AD; these brain changes have similar pathological features as AD, and some appear to be predictive of future cognitive decline. This review examines the most recent data on brain changes in genetic risk for AD and discusses the benefits and potential risks of detecting individuals at risk.
    Annual Review of Clinical Psychology 02/2009; 5(1):343-62. DOI:10.1146/annurev.clinpsy.032408.153625 · 12.67 Impact Factor
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