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| ID | Type | Description | Link |
|---|---|---|---|
| 5R01HG002213 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institute on Aging (NIA) | NIH |
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The purpose of this study is to determine the characteristics of those who obtain genetic susceptibility testing for Alzheimer's disease with APOE disclosure and to study the psychological and behavioral consequences of providing this information.
Advances in genetic research have led to an increased number of testing procedures to determine future risk of disease among at-risk individuals. An increasing number of genes are being identified that confer susceptibility for a given disease rather than inevitably causing it. Given that such genes may provide risk information for common diseases (e.g., stroke, depression), there is a growing need to understand how at-risk populations might respond to the option of genetic susceptibility testing. A prominent case in point is Alzheimer's disease (AD).
Participation in this study requires an initial phone call which will elicit some medical and family history information about the participant. A first in-person visit to the clinic will consist of an education session and the administration of some tests to assess memory and thinking skills. This visit will take approximately 2-3 hours. Approximately 2 weeks later, participants will return to have their blood drawn for genetic testing. Participants will then be randomized to one of two groups. Those in the experimental arm will receive information on their risk based on their family history and APOE genotype, while those in the active comparator arm will receive information on their risk for developing Alzheimer's disease based on their family history alone. Participants will be followed for 1 year following disclosure of results with 2 additional clinic visits.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 1 | Experimental | AD risk assessment based on family history and APOE genotype |
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| 2 | Active Comparator | AD risk assessment based on family history alone |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| APOE Disclosure | Behavioral | Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease and told their own APOE genotype. |
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| Measure | Description | Time Frame |
|---|---|---|
| Center for Epidemiological Studies-Depression Scale (CES-D) | baseline, 6 weeks, 6 months, 12 months post-disclosure | |
| Beck Anxiety Inventory (BAI) | baseline, 6 weeks, 6 months, 12 months post-disclosure |
| Measure | Description | Time Frame |
|---|---|---|
| Impact of Events Scale (IES) | 6 weeks, 6 months, 12 months post-disclosure | |
| Future Attitudes Scale (FAS) | baseline, 6 weeks, 6 months, 12 months post-disclosure | |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Robert C. Green, MD, MPH | Boston University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Boston University School of Medicine | Boston | Massachusetts | 02118 | United States | ||
| Weill Medical College of Cornell University |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 9343467 | Background | Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, Myers RH, Pericak-Vance MA, Risch N, van Duijn CM. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA. 1997 Oct 22-29;278(16):1349-56. | |
| 9348421 | Background | Green RC, Clarke VC, Thompson NJ, Woodard JL, Letz R. Early detection of Alzheimer disease: methods, markers, and misgivings. Alzheimer Dis Assoc Disord. 1997;11 Suppl 5:S1-5; discussion S37-9. doi: 10.1016/s0197-4580(96)80334-4. |
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| ID | Term |
|---|---|
| D000544 | Alzheimer Disease |
| D060825 | Cognitive Dysfunction |
| D004198 | Disease Susceptibility |
| D020022 | Genetic Predisposition to Disease |
| ID | Term |
|---|---|
| D003704 | Dementia |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
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| Positive and Negative Affect Schedule (PANAS) |
| baseline, 6 weeks, 6 months, 12 months post-disclosure |
| New York |
| New York |
| 10021 |
| United States |
| Case Western Reserve University | Cleveland | Ohio | 44120 | United States |
| 11790212 | Background | Green RC, Cupples LA, Go R, Benke KS, Edeki T, Griffith PA, Williams M, Hipps Y, Graff-Radford N, Bachman D, Farrer LA; MIRAGE Study Group. Risk of dementia among white and African American relatives of patients with Alzheimer disease. JAMA. 2002 Jan 16;287(3):329-36. doi: 10.1001/jama.287.3.329. |
| 19605829 | Derived | Green RC, Roberts JS, Cupples LA, Relkin NR, Whitehouse PJ, Brown T, Eckert SL, Butson M, Sadovnick AD, Quaid KA, Chen C, Cook-Deegan R, Farrer LA; REVEAL Study Group. Disclosure of APOE genotype for risk of Alzheimer's disease. N Engl J Med. 2009 Jul 16;361(3):245-54. doi: 10.1056/NEJMoa0809578. |
| D024801 |
| Tauopathies |
| D019636 | Neurodegenerative Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| D003072 | Cognition Disorders |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |