A Community-Based Approach for ALDH2 Genetic Testing in East Asian Americans

PROJECT SUMMARY Asian Americans are one of the fastest growing ethnic groups in the United States, yet they remain underrepresented in discussions about the utility of genetics and genomics and how this technology should or should not be implemented into clinical care. One condition, Asian Alcohol Flushing Syndrome, affects over

25% of East Asians and is caused by a genetic variant, ALDH2*2. ALDH2*2 also has links to serious medical conditions such as stroke, myocardial infarction, and Alzheimer’s Disease, and it affects individuals’ alcohol metabolism, making alcohol consumption more toxic and cancer causing. Lifestyle changes, such as reducing

alcohol consumption, can reduce the risk of esophageal cancer for East Asian Americans with this variant. However, we lack information about East Asian American community members’ perceptions of genetic testing for ALDH2*2 and how to implement this testing into clinical care. The goal of the proposed research is to engage an underrepresented community in the implementation of

genomic testing that has direct relevance to their health outcomes. I will accomplish this goal by evaluating the effect of ALDH2 genetic testing on the drinking behaviors of East Asian Americans and assessing clinician and patient opinions of moving this test from direct-to-consumer to clinical practice. This proposal has three specific

aims. Aim One: To evaluate East Asian American community members’ perceptions of personal utility for ALDH2*2 genetic testing and preferences for screening. Aim Two: To identify barriers and facilitators to implementation of ALDH2*2 genetic testing in primary care. Aim Three: To measure the effect of direct-to-

consumer ALDH2*2 genetic testing and education on health behaviors of East Asian Americans who flush when they drink alcohol. The proposed research will provide community-driven recommendations for implementing ALDH2*2 genetic testing in primary care. Dr. Young will achieve these aims by drawing on her current skills in qualitative research and genetics, as well

as additional training in community-engaged research, pragmatic clinical trials, and implementation science. These research and training goals are to be carried out at Northwestern University in conjunction with a Community Advisory Board of East Asian Americans who flush when they drink alcohol and an experienced

team of mentors. Dr. Young is already an accomplished scholar with a track record of high-quality research. The outlined training plan will enable Dr. Young to accomplish her long-term career goal to become an independent, interdisciplinary researcher implementing ethical and equitable genetic testing interventions for

underserved communities.