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.