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| ID | Type | Description | Link |
|---|---|---|---|
| 1K01HL173859-01 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Heart, Lung, and Blood Institute (NHLBI) | NIH |
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The goal of this clinical trial is to learn whether education plus genetic testing for ALDH2*2 and ADH1B*2 is feasible and acceptable and whether it influences modifiable health behaviors in East Asian American adults who experience alcohol flushing when they drink alcohol or have a family history of flushing. The main questions it aims to answer are:
Participants will:
Alcohol flushing syndrome affects an estimated >500 million individuals worldwide and is strongly associated with functional variants in alcohol metabolism genes, particularly ALDH2 (e.g., ALDH2*2) and ADH1B (e.g., ADH1B*2). ALDH2*2 reduces aldehyde dehydrogenase activity, contributing to acetaldehyde accumulation and is associated with increased risk for alcohol-related morbidity, including certain cancers and cardiometabolic outcomes. Despite the public health relevance, ALDH2/ADH1B implementation in clinical care remains limited, and evidence-based strategies are needed to support equitable and ethical adoption, especially for populations underrepresented in genomics research. This study will engage the East Asian American community to evaluate implementation strategies for ALDH2*2 and ADH1B*2 genetic testing and education in clinical settings and to examine the behavioral impact of returning genetic risk information. Using a pragmatic, randomized comparative effectiveness pilot design, East Asian American adults who self-report alcohol flushing and/or a family history of flushing will be randomized to either: (1) education plus ALDH2*2/ADH1B*2 genetic testing with genotype-informed result disclosure, or (2) education alone. Primary outcomes are feasibility and acceptability of the testing-and-education approach; secondary outcomes include changes in modifiable health behaviors (e.g., alcohol-related decision-making) following education with or without genetic result return. Findings will inform scalable implementation pathways and contribute to equitable integration of genomic testing into routine care for populations experiencing healthcare disparities.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Alcohol Flushing Education Only | Active Comparator |
| |
| Alcohol Flushing Education AND Genetic Testing | Experimental |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic Test Results Return | Behavioral | Returning genetic test results for alcohol flushing genes (i.e., ALDH2, ADH1B) |
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| Measure | Description | Time Frame |
|---|---|---|
| Feasibility of Alcohol Flushing Genetic Testing in Primary Care | Feasibility of Intervention Measure (FIM) will be administered to primary care clinicians to measure the extent to which alcohol flushing genetic testing can be successfully used or carried out within a primary care setting. Post-intervention, we will quantitatively assess feasibility of ALDH2 education and genetic testing via 1 questionnaire (4 items total): Feasibility of Intervention Measure (FIM). This 4-item psychometrically-validated measure captures the extent to which individuals believe an implementation strategy is feasible. | From enrollment to the end of data collection at 8 weeks. |
| Measure | Description | Time Frame |
|---|---|---|
| Acceptability of Alcohol Flushing Genetic Testing in Primary Care | Acceptability of Intervention Measure (AIM) assess how agreeable, palatable, or satisfactory alcohol flushing genetic testing is to primary care clinicians. Post-intervention, we will quantitatively assess acceptability of ALDH2 education and genetic testing via 1 questionnaire (4 items total): Acceptability of Intervention Measure (AIM). This 4-item psychometrically-validated measure captures the extent to which individuals believe an implementation strategy is acceptable. |
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Inclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Fiona Y Seung, MS | Contact | 2064538538 | fiona.seung@northwestern.edu | |
| Jennifer L Young, PhD | Contact | 6085137862 | jennifer.young1@northwestern.edu |
| Name | Affiliation | Role |
|---|---|---|
| Jennifer L Young, PhD | Northwestern U | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Northwestern University Feinberg School of Medicine | Chicago | Illinois | 60611 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 26782498 | Background | Zhang LL, Wang YQ, Fu B, Zhao SL, Kui Y. Aldehyde dehydrogenase 2 (ALDH2) polymorphism gene and coronary artery disease risk: a meta-analysis. Genet Mol Res. 2015 Dec 28;14(4):18503-14. doi: 10.4238/2015.December.23.38. | |
| 31368101 | Background | Yasue H, Mizuno Y, Harada E. Association of East Asian Variant Aldehyde Dehydrogenase 2 Genotype (ALDH2*2*) with Coronary Spasm and Acute Myocardial Infarction. Adv Exp Med Biol. 2019;1193:121-134. doi: 10.1007/978-981-13-6260-6_7. |
| Label | URL |
|---|---|
| Related Info | View source |
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Consent language approved by IRB board did not include broad data sharing AND IDP may be identifiable.
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| ID | Term |
|---|---|
| D005483 | Flushing |
| D004938 | Esophageal Neoplasms |
| D000544 | Alzheimer Disease |
| D002318 | Cardiovascular Diseases |
| ID | Term |
|---|---|
| D012877 | Skin Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D005770 | Gastrointestinal Neoplasms |
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| ID | Term |
|---|---|
| D000431 | Ethanol |
| ID | Term |
|---|---|
| D000438 | Alcohols |
| D009930 | Organic Chemicals |
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| Alcohol Flushing Education | Behavioral | Administering alcohol flushing educational module. |
|
| From enrollment to the end of data collection at 8 weeks. |
| Change(s) in Alcohol Consumption | Alcohol consumption outcome measurements at baseline and one month after educational modules are shared AND after genetic testing results are received. This results in 3 alcohol outcome measurements total for both arms of the study. | Alcohol consumption outcome measurements at baseline and one month after educational modules are shared AND after genetic testing results are received. |
| 31114208 | Background | Xu YL, Hu YY, Li JW, Zhou L, Li L, Niu YM. Aldehyde dehydrogenase 2 rs671G>A polymorphism and ischemic stroke risk in Chinese population: a meta-analysis. Neuropsychiatr Dis Treat. 2019 Apr 23;15:1015-1029. doi: 10.2147/NDT.S196175. eCollection 2019. |
| 20010786 | Background | Ding JH, Li SP, Cao HX, Wu JZ, Gao CM, Liu YT, Zhou JN, Chang J, Yao GH. Alcohol dehydrogenase-2 and aldehyde dehydrogenase-2 genotypes, alcohol drinking and the risk for esophageal cancer in a Chinese population. J Hum Genet. 2010 Feb;55(2):97-102. doi: 10.1038/jhg.2009.129. Epub 2009 Dec 11. |
| 30984100 | Background | Chen J, Huang W, Cheng CH, Zhou L, Jiang GB, Hu YY. Association Between Aldehyde dehydrogenase-2 Polymorphisms and Risk of Alzheimer's Disease and Parkinson's Disease: A Meta-Analysis Based on 5,315 Individuals. Front Neurol. 2019 Mar 28;10:290. doi: 10.3389/fneur.2019.00290. eCollection 2019. |
| D004067 | Digestive System Neoplasms |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D006258 | Head and Neck Neoplasms |
| D004066 | Digestive System Diseases |
| D004935 | Esophageal Diseases |
| D005767 | Gastrointestinal Diseases |
| 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 |