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Genetic Risk Assessment for Adult Children of People With Alzheimer’s Disease: The Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) Study

Department of Neurology, Boston University School of Medicine, jscottr{at}bu.edu

L. Adrienne Cupples, PhD

Departments of Biostatistics & Epidemiology, Boston University School of Public Health

Norman R. Relkin, MD, PhD

Department of Neurology, Weill Medical College of Cornell University

Peter J. Whitehouse, MD, PhD

Memory & Aging Center, Case Western Reserve University/University Hospitals of Cleveland

Robert C. Green, MD, MPH

Departments of Neurology, Medicine (Genetics Program), and Epidemiology, Boston University Schools of Medicine and Public Health

for the REVEAL (Risk Evaluation and Education for Alzheimer’s Disease) Study Group

As genetic risk factors continue to be identified for common, complex adult-onset diseases, it will become increasingly important to understand if, how, and when to translate these discoveries into clinical practice. This article provides an overview of and results to date from the REVEAL study, a multisite randomized clinical trial (n = 162) examining the impact of a genetic risk assessment program, including apolipoprotein E genotype disclosure, for adult children of people with Alzheimer’s disease. The study’s rationale and procedures are described, including the generation of numerical lifetime risk curves for use in the education and counseling protocol. Findings are summarized across numerous study questions, including (1) who seeks genetic risk assessment and why, (2) how apolipoprotein E results affect risk perceptions, (3) the psychological impact of genetic risk assessment, and (4) how risk information affects participants’ subsequent health and insurance behaviors.

Key Words: Alzheimer’s disease • genetic testing • apolipoprotein E • risk assessment

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