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| ID | Type | Description | Link |
|---|---|---|---|
| R01HG002213 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Human Genome Research Institute (NHGRI) | NIH |
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The purpose of this study is to provide healthy adults with genetic testing and information about their chances of developing Alzheimer's disease.
Alzheimer's disease is a common condition affecting memory and thinking. Genes can sometimes be used to provide risk estimates for the eventual development of certain common diseases. Apolipoprotein E (APOE) is one gene that has been identified which can provide information about a person's chances of developing Alzheimer's diseases. Previous research explored the behavioral and psychological impact of receiving genetic risk information for Alzheimer's disease (AD). The REVEAL I Study, funded in 1999, showed that an Alzheimer's disease genetic risk assessment can be given to relatives of people with AD in a safe way. REVEAL II, which was funded in 2003, demonstrated that this same information can be given in a condensed education and counseling protocol without causing severe psychological harm. REVEAL III will further study different ways of providing genetic risk information for Alzheimer's disease.
Participation in this study will entail an initial screening phone call to determine eligibility, followed by a phone interview which will ask about demographic information and thoughts and feelings about AD. Participants will complete a mailed survey. Following completion of the survey, a genetic counselor will meet with the participant at the clinic to review family and medical history, administer additional questionnaires asking about AD and genetic testing, and draw blood for genetic testing. Results will be disclosed either in person or over the phone about 3 to 4 weeks later. The genetic counselor will make a brief follow-up phone call 1 week after that. The participant will visit the clinic twice to provide additional information, at 6 weeks and 6 months after disclosure. Finally, the participant will complete a mailed 12 month survey, and the genetic counselor will make a brief follow-up phone call.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Pleiotropic info, in-person disclosure | Experimental | Incidental pleiotropic risk information, in addition to AD risk information, is disclosed in-person during an APOE-based genetic risk assessment |
|
| AD-only info, phone disclosure | Experimental | Alzheimer's disease risk information only is disclosed via telephone during an APOE-based genetic risk assessment |
|
| Pleiotropic info, phone disclosure | Experimental | Incidental pleiotropic risk information, in addition to AD risk information, is disclosed via telephone during an APOE-based genetic risk assessment |
|
| AD-only info, in-person disclosure | Active Comparator | Alzheimer's disease risk information only is disclosed in-person during an APOE-based genetic risk assessment |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Pleiotropic info, in-person disclosure | Behavioral | Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping as well as additional pleiotropic information. Genetic counselors communicate results to participants during an in-person disclosure session. |
| Measure | Description | Time Frame |
|---|---|---|
| Center for Epidemiological Studies-Depression Scale (CES-D) | A 20-item scale measuring general depression. Scores range from 0-60, with higher scores indicating greater general depression. | 6 weeks, 6 months, and 12 months post-disclosure |
| Beck Anxiety Inventory (BAI) | A 21-item scale measuring general anxiety. Scores range from 0-63, with higher scores indicating greater anxiety. | 6 weeks, 6 months, 12 months post-disclosure |
| Measure | Description | Time Frame |
|---|---|---|
| Impact of Events Scale (IES) | A 15-item scale measuring distress specific to the test results received. Scores range from 0-75, with higher scores indicating greater test-related distress. | 6 weeks, 6 months, 12 months post-disclosure |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Robert Green, MD, MPH | Brigham and Women's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Howard University | Washington D.C. | District of Columbia | 20059 | United States | ||
| Boston University School of Medicine |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 12820701 | Background | Hipps YG, Roberts JS, Farrer LA, Green RC. Differences between African Americans and Whites in their attitudes toward genetic testing for Alzheimer's disease. Genet Test. 2003 Spring;7(1):39-44. doi: 10.1089/109065703321560921. | |
| 12794385 | Background | Roberts JS, LaRusse SA, Katzen H, Whitehouse PJ, Barber M, Post SG, Relkin N, Quaid K, Pietrzak RH, Cupples LA, Farrer LA, Brown T, Green RC. Reasons for seeking genetic susceptibility testing among first-degree relatives of people with Alzheimer disease. Alzheimer Dis Assoc Disord. 2003 Apr-Jun;17(2):86-93. doi: 10.1097/00002093-200304000-00006. |
| Label | URL |
|---|---|
| Primary REVEAL Study web site (http://www.genomes2people.org/reveal/) | View source |
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| ID | Title | Description |
|---|---|---|
| FG000 | Pleiotropic Info, In-person Disclosure | Incidental pleiotropic risk information, in addition to Alzheimer's disease risk information, is disclosed in-person during an APOE-based genetic risk assessment Pleiotropic info, in-person disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping as well as additional pleiotropic information. Genetic counselors communicate results to participants during an in-person disclosure session. |
| Title | Milestones | Reasons Not Completed | |||||
|---|---|---|---|---|---|---|---|
| Overall Study |
|
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
|
| AD-only info, in-person disclosure | Behavioral | Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping. Genetic counselors communicate results to participants during an in-person disclosure session. |
|
| Pleiotropic info, phone disclosure | Behavioral | Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping as well as additional pleiotropic information. Genetic counselors communicate results to participants during a telephone disclosure session. |
|
| AD-only info, phone disclosure | Behavioral | Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping. Genetic counselors communicate results to participants during an in-person disclosure session. |
|
| Boston |
| Massachusetts |
| 02118 |
| United States |
| University of Michigan | Ann Arbor | Michigan | 48109 | United States |
| Case Western Reserve University | Cleveland | Ohio | 44120 | United States |
| 15266207 | Background | Roberts JS, Barber M, Brown TM, Cupples LA, Farrer LA, LaRusse SA, Post SG, Quaid KA, Ravdin LD, Relkin NR, Sadovnick AD, Whitehouse PJ, Woodard JL, Green RC. Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial. Genet Med. 2004 Jul-Aug;6(4):197-203. doi: 10.1097/01.gim.0000132688.55591.77. |
| 15654228 | Background | LaRusse S, Roberts JS, Marteau TM, Katzen H, Linnenbringer EL, Barber M, Whitehouse P, Quaid K, Brown T, Green RC, Relkin NR. Genetic susceptibility testing versus family history-based risk assessment: Impact on perceived risk of Alzheimer disease. Genet Med. 2005 Jan;7(1):48-53. doi: 10.1097/01.gim.0000151157.13716.6c. |
| 16306249 | Background | Roberts JS, Cupples LA, Relkin NR, Whitehouse PJ, Green RC; REVEAL (Risk Evaluation and Education for Alzheimer's Disease) Study Group. Genetic risk assessment for adult children of people with Alzheimer's disease: the Risk Evaluation and Education for Alzheimer's Disease (REVEAL) study. J Geriatr Psychiatry Neurol. 2005 Dec;18(4):250-5. doi: 10.1177/0891988705281883. |
| 21696382 | Background | Roberts JS, Christensen KD, Green RC. Using Alzheimer's disease as a model for genetic risk disclosure: implications for personal genomics. Clin Genet. 2011 Nov;80(5):407-14. doi: 10.1111/j.1399-0004.2011.01739.x. Epub 2011 Jul 18. |
| 28726810 | Result | Christensen KD, Uhlmann WR, Roberts JS, Linnenbringer E, Whitehouse PJ, Royal CDM, Obisesan TO, Cupples LA, Butson MB, Fasaye GA, Hiraki S, Chen CA, Siebert U, Cook-Deegan R, Green RC. A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone. Genet Med. 2018 Jan;20(1):132-141. doi: 10.1038/gim.2017.103. Epub 2017 Jul 20. |
| 26810768 | Result | Christensen KD, Roberts JS, Whitehouse PJ, Royal CD, Obisesan TO, Cupples LA, Vernarelli JA, Bhatt DL, Linnenbringer E, Butson MB, Fasaye GA, Uhlmann WR, Hiraki S, Wang N, Cook-Deegan R, Green RC; REVEAL Study Group*. Disclosing Pleiotropic Effects During Genetic Risk Assessment for Alzheimer Disease: A Randomized Trial. Ann Intern Med. 2016 Feb 2;164(3):155-63. doi: 10.7326/M15-0187. Epub 2016 Jan 26. |
| 25642295 | Result | Christensen KD, Roberts JS, Zikmund-Fisher BJ, Kardia SL, McBride CM, Linnenbringer E, Green RC; REVEAL Study Group. Associations between self-referral and health behavior responses to genetic risk information. Genome Med. 2015 Jan 31;7(1):10. doi: 10.1186/s13073-014-0124-0. eCollection 2015. |
| 25634646 | Result | Besser AG, Sanderson SC, Roberts JS, Chen CA, Christensen KD, Lautenbach DM, Cupples LA, Green RC. Factors affecting recall of different types of personal genetic information about Alzheimer's disease risk: the REVEAL study. Public Health Genomics. 2015;18(2):78-86. doi: 10.1159/000368888. Epub 2015 Jan 24. |
| FG001 | AD-only Info, Phone Disclosure | Alzheimer's disease risk information only is disclosed via telephone during an APOE-based genetic risk assessment AD-only info, phone disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping. Genetic counselors communicate results to participants during an in-person disclosure session. |
| FG002 | Pleiotropic Info, Phone Disclosure | Incidental pleiotropic risk information, in addition to Alzheimer's disease risk information, is disclosed via telephone during an APOE-based genetic risk assessment Pleiotropic info, phone disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping as well as additional pleiotropic information. Genetic counselors communicate results to participants during a telephone disclosure session. |
| FG003 | AD-only Info, In-person Disclosure | Alzheimer's disease risk information only is disclosed in-person during an APOE-based genetic risk assessment AD-only info, in-person disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping. Genetic counselors communicate results to participants during an in-person disclosure session. |
| Met With Genetic Counselor |
|
| Received Risk Information |
|
| Completed 6 Week Follow-up |
|
| Completed 6 Month Follow-up |
|
| COMPLETED |
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| NOT COMPLETED |
|
Baseline population includes all participants who received genetic risk information, regardless of whether they completed follow-up time surveys.
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| ID | Title | Description |
|---|---|---|
| BG000 | Pleiotropic Info, In-person Disclosure | Incidental pleiotropic risk information, in addition to AD risk information, is disclosed in-person during an APOE-based genetic risk assessment Pleiotropic info, in-person disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping as well as additional pleiotropic information. Genetic counselors communicate results to participants during an in-person disclosure session. |
| BG001 | AD-only Info, Phone Disclosure | Alzheimer's disease risk information only is disclosed via telephone during an APOE-based genetic risk assessment AD-only info, phone disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping. Genetic counselors communicate results to participants during an in-person disclosure session. |
| BG002 | Pleiotropic Info, Phone Disclosure | Incidental pleiotropic risk information, in addition to AD risk information, is disclosed via telephone during an APOE-based genetic risk assessment Pleiotropic info, phone disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping as well as additional pleiotropic information. Genetic counselors communicate results to participants during a telephone disclosure session. |
| BG003 | AD-only Info, In-person Disclosure | Alzheimer's disease risk information only is disclosed in-person during an APOE-based genetic risk assessment AD-only info, in-person disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping. Genetic counselors communicate results to participants during an in-person disclosure session. |
| BG004 | Total | Total of all reporting groups |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean | Standard Deviation | years |
| |||||||||||||||
| Sex: Female, Male | Count of Participants | Participants |
| ||||||||||||||||
| Race (NIH/OMB) | Count of Participants | Participants |
| ||||||||||||||||
| Region of Enrollment | Number | participants |
| ||||||||||||||||
| Anxiety (Beck Anxiety Index: BAI) | Scores on the Beck Anxiety Index (BAI), a 21-item scale measuring general anxiety. Scores range from 0-63, with higher scores indicating greater anxiety. | Mean | Standard Deviation | units on a scale |
| ||||||||||||||
| Depression (Center for Epidemiological Studies Depression Scale: CES-D) | Scores on the Center for Epidemiological Studies Depression Scale (CES-D), a 20-item scale measuring general depression. Scores range from 0-60, with higher scores indicating greater general depression. | Mean | Standard Deviation | units on a scale |
|
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Center for Epidemiological Studies-Depression Scale (CES-D) | A 20-item scale measuring general depression. Scores range from 0-60, with higher scores indicating greater general depression. | "Number of participants analyzed" are the number of participants who received genetic risk information and completed the 6-week follow-up (256). At 6 months, 252 participants provided data. At 12 months, 247 participants provided data. | Posted | Mean | Standard Deviation | score on a scale | 6 weeks, 6 months, and 12 months post-disclosure |
|
|
| |||||||||||||||||||||||||||||
| Primary | Beck Anxiety Inventory (BAI) | A 21-item scale measuring general anxiety. Scores range from 0-63, with higher scores indicating greater anxiety. | "Number of participants analyzed" are the number of participants who received genetic risk information and completed the 6-week follow-up (256). At 6 months, 252 participants provided data. At 12 months, 247 participants provided data. | Posted | Mean | Standard Deviation | score on a scale | 6 weeks, 6 months, 12 months post-disclosure |
| |||||||||||||||||||||||||||||||
| Secondary | Impact of Events Scale (IES) | A 15-item scale measuring distress specific to the test results received. Scores range from 0-75, with higher scores indicating greater test-related distress. | "Number of participants analyzed" are the number of participants who received genetic risk information and completed the 6-week follow-up (256). At 6 months, 252 participants provided data. At 12 months, 247 participants provided data. | Posted | Mean | Standard Deviation | score on a scale | 6 weeks, 6 months, 12 months post-disclosure |
|
Not provided
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Not provided
| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Pleiotropic Info, In-person Disclosure | Incidental pleiotropic risk information, in addition to AD risk information, is disclosed in-person during an APOE-based genetic risk assessment Pleiotropic info, in-person disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping as well as additional pleiotropic information. Genetic counselors communicate results to participants during an in-person disclosure session. | 1 | 64 | 8 | 64 | ||
| EG001 | AD-only Info, Phone Disclosure | Alzheimer's disease risk information only is disclosed via telephone during an APOE-based genetic risk assessment AD-only info, phone disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping. Genetic counselors communicate results to participants during an in-person disclosure session. | 0 | 70 | 9 | 70 | ||
| EG002 | Pleiotropic Info, Phone Disclosure | Incidental pleiotropic risk information, in addition to AD risk information, is disclosed via telephone during an APOE-based genetic risk assessment Pleiotropic info, phone disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping as well as additional pleiotropic information. Genetic counselors communicate results to participants during a telephone disclosure session. | 0 | 55 | 4 | 55 | ||
| EG003 | AD-only Info, In-person Disclosure | Alzheimer's disease risk information only is disclosed in-person during an APOE-based genetic risk assessment AD-only info, in-person disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping. Genetic counselors communicate results to participants during an in-person disclosure session. | 0 | 68 | 5 | 68 |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Death | Social circumstances | Non-systematic Assessment |
|
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Potential mood disorder | Psychiatric disorders | Systematic Assessment | BAI or CES-D scores above standard cutoffs for severe anxiety or depression, respectively; or increases of at least 15 points from baseline on BAI or CES-D scores at any follow up. Events are noted regardless of whether they are study-related |
| |
| Hospitalization | General disorders | Non-systematic Assessment | Participant was hospitalized. Events are reported regardless of whether they are study-related |
|
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Robert C. Green, MD, MPH | Brigham and Women's Hospital and Harvard Medical School | 617-264-5838 | rcgreen@genetics.med.harvard.edu |
| ID | Term |
|---|---|
| D000544 | Alzheimer Disease |
| D004198 | Disease Susceptibility |
| D020022 | Genetic Predisposition to Disease |
| ID | Term |
|---|---|
| D003704 | Dementia |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D024801 | Tauopathies |
| D019636 | Neurodegenerative Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| Male |
|
| Asian |
|
| Native Hawaiian or Other Pacific Islander |
|
| Black or African American |
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| White |
|
| More than one race |
|
| Unknown or Not Reported |
|
|
| 6 Months |
|
|
| 12 Months |
|
|
| OG002 |
| Pleiotropic Info, Phone Disclosure |
Incidental pleiotropic risk information, in addition to AD risk information, is disclosed via telephone during an APOE-based genetic risk assessment Pleiotropic info, phone disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping as well as additional pleiotropic information. Genetic counselors communicate results to participants during a telephone disclosure session. |
| OG003 | AD-only Info, In-person Disclosure | Alzheimer's disease risk information only is disclosed in-person during an APOE-based genetic risk assessment AD-only info, in-person disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping. Genetic counselors communicate results to participants during an in-person disclosure session. |
|
|
| OG002 | Pleiotropic Info, Phone Disclosure | Incidental pleiotropic risk information, in addition to AD risk information, is disclosed via telephone during an APOE-based genetic risk assessment Pleiotropic info, phone disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping as well as additional pleiotropic information. Genetic counselors communicate results to participants during a telephone disclosure session. |
| OG003 | AD-only Info, In-person Disclosure | Alzheimer's disease risk information only is disclosed in-person during an APOE-based genetic risk assessment AD-only info, in-person disclosure: Individuals are provided with a lifetime percentage risk of developing Alzheimer's disease based on APOE genotyping. Genetic counselors communicate results to participants during an in-person disclosure session. |
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| Title | Measurements |
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| Title | Measurements |
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| Title | Measurements |
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