? The Risk Evaluation and Education for Alzheimer's Disease (REVEAL) Study is an ongoing, multi-site research project that is designed to evaluate the psychological and behavioral impact of genetic risk assessment with disclosure of APOE, a susceptibility polymorphism for Alzheimer's disease. In the first funding cycle of the REVEAL Study, we developed a novel risk assessment methodology and conducted a randomized clinical trial in which 162 first degree relatives of patients with AD received genetic risk assessment with or without APOE disclosure. The results of this trial suggested that genotype information could be disclosed safely with a highly structured protocol. In the (current) funding cycle of the REVEAL Study, we adjusted our risk curves to incorporate data on African Americans, and we have enrolled 297 subjects into a second randomized trial to examine the impact of genetic risk assessment with a brief, more clinically feasible protocol in comparison to a more conventional genetic counseling protocol. Preliminary results suggest that the brief protocol is as safe and effective in educating participants as the conventional protocol, so it will be used exclusively in the next phase of our research. In the next funding cycle of the REVEAL Study we propose to combine genotype and phenotype information, creating new risk estimates that incorporate the presence or absence of mild cognitive impairment (MCI), an amnestic condition which increases the probability of developing AD. Because APOE also increases the risk of cardiovascular disease, we will also study disclosure of genetic pleiotropy by enrolling 256 subjects, including 60 MCI subjects, into a new randomized clinical trial that compares the impact of providing risk information on two diseases to providing risk information on just one. We will add outcome measures that explore themes of race and social identity among participants volunteering for genetic risk assessment. We will also re-examine participants from the first two funding cycles to assess the long-term impact of genetic risk assessment and disclosure for AD up to 10 years following disclosure. This study will have an impact on public health by informing policy makers and clinicians about safe and effective ways to integrate genetic discoveries into the practice of medicine. ? ? ? ? ?

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project (R01)
Project #
5R01HG002213-09
Application #
7446818
Study Section
Special Emphasis Panel (ZRG1-ELS-A (02))
Program Officer
Mcewen, Jean
Project Start
1999-09-30
Project End
2010-06-30
Budget Start
2008-07-01
Budget End
2010-06-30
Support Year
9
Fiscal Year
2008
Total Cost
$572,870
Indirect Cost
Name
Boston University
Department
Neurology
Type
Schools of Medicine
DUNS #
604483045
City
Boston
State
MA
Country
United States
Zip Code
02118
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Guan, Yue; Roter, Debra L; Erby, Lori H et al. (2017) Disclosing genetic risk of Alzheimer's disease to cognitively impaired patients and visit companions: Findings from the REVEAL Study. Patient Educ Couns 100:927-935
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Lebo, Matthew S; Sutti, Sheila; Green, Robert C (2016) ""Big Data"" Gets Personal. Sci Transl Med 8:322fs3-3fs3

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