PMEPC Lecture by Dr. Jennifer Young: Asian American Representation in Genetics and Genomics
PMEPC Dr. Young Lecture Blog Post
Chloe Yi Hang Cheung and Kun-Woo Rafael Kim
Dr. Young explained that the term Asian American is a pan-ethnic identity that is neither representative nor exhaustive. Many ethnic subgroups belong under the Asian American umbrella term, yet this heterogeneity is often overlooked. Dr. Young found that most studies utilize the term “Asian” to describe their research participants without specifying the subgroup. This is an important consideration as these subgroups have different characteristics such as socioeconomic status (SES) and face different healthcare barriers. Dr. Young also highlighted the consequences of the “model minority” stereotype in her talk, which is the belief that Asian Americans do not face health disparities to the same extent as other minority groups. This myth is not only hugely detrimental to the quality of healthcare provided, but also further homogenizes this diverse group. Dr. Young drew attention to the lack of healthcare and research funding for Asian Americans, even though they are the fastest-growing racial/ethnic group in the U.S. This is evident as the proportion of the total NIH budget for Asian Americans has seen essentially no increase in recent years.
Dr. Young’s systematic literature review of genetic counseling and testing for Asian Americans revealed various notable trends. Firstly, Asian Americans had greater difficulties accessing genetic testing. A study found that Asian Americans were less likely to be referred for genetic testing when compared to White women. Interestingly, Dr. Young found that Asian Americans seemed to be more concerned about the psychosocial impacts of genetic testing and less concerned about insurance coverage issues. Other considerations within the Asian American community surrounding genetic testing are disease stigma, further emphasizing the need for cultural competency in providers. With these findings, Dr. Young notes the various gaps in the literature that must be addressed. She returns to the major issue of the lack of specificity of the Asian American subgroup and recommends disaggregating Asian American data and using more detailed measures of Asian American identity in future research. Additionally, she suggests that further research should focus on comparing Asian American subgroups and using broader (and perhaps more telling) demographic variables beyond race and ethnicity, such as SES, education level, and nativity.
In the latter part of her talk, Dr. Young presented an example of how precision medicine can be applied in the Asian American population by considering ALDH2 deficiency, a condition with higher prevalence in this group. Traditionally considered a minor phenotypic trait that causes flushing of the skin and tachycardia upon consumption of alcohol, there are serious health implications associated with this condition. The combination of ALDH2 deficiency with alcohol and tobacco significantly increases the risk of esophageal cancer, a type of cancer that is difficult to detect and treat (McAllister et al., 2016). This illustrates a potential for genetic testing to be used for preventative health, as individuals identified to have this condition could be counseled regarding risks of esophageal cancer combined with certain lifestyle choices. Of note, ALDH2 testing is not currently offered clinically but only in a direct-to-consumer (DTC) setting, which raises other concerns with regards to the interpretation of results without counseling from a medical professional.
Since Dr. Young’s talk focused specifically on a condition more prevalent among Asian Americans, the working group discussion opened with an acknowledgement that race is not a biological category. Due to this, there are obvious concerns that genetic testing could be used in a way that supports racial profiling. Focusing on race in biomedical research also has the potential of neglecting other important sociocultural determinants of health that have a huge impact on health outcomes. While Dr. Young recognizes that the field is still very much grappling with usage of the terms like race and ancestry, she emphasizes that the “model minority” myth of Asian Americans may contribute to the underdiagnosis of genetic conditions that are highly prevalent among these populations.
The question of how race should be used in modern clinical medicine remains and efforts to move away from using race as a variable for medical decision making is still in its early phase. For now, there seems to be no clear-cut answers. Dr. Sabatello mentioned the inherent challenges in disaggregating a group already underrepresented in genomics research and questioned whether there is a tradeoff between disaggregation of Asian American data and inclusivity in research. In response, Dr. Young acknowledged an ethical challenge of requiring every citizen to report their specific subgroup racial identity and that expressed that many of these complex issues have no easy solutions.
The conversation led to the challenge of separating the concepts of ancestry and race. Dr. Eyal noted that while the race is a self-reported category in the U.S., ancestry is an entirely different concept referring to the genomic variation between populations (Mathieson & Scally, 2020). Dr. Eyal further presented the challenge of balancing the need for a category that can be used to stratify populations for public health purposes and the concern of inadvertently homogenizing a diverse population. To this, Dr. Young noted an interesting consequence of DTC ancestry testing in the increasing numbers of individuals who self-report to be multi-racial, indicating increasing levels of public acceptance that people are more “mixed” than previously believed.
The discussion turned to the prioritization of funding for healthcare research in Asian Americans and other underrepresented groups. Dr. Young stated a poignant statistic that Asian Americans participate in research at the lowest rates compared to any other ethnic group. The National Institute of Health’s (NIH) budget for research in healthcare for minorities, health equity, and access to basic health services is comparably smaller than the budget set aside for other sectors of the NIH. Further complicating this issue is the lack of oversight into the research activities conducted by the NIH. Dr. Sabatello explained that while the NIH mandates the inclusion of a certain level of participant diversity in their research studies there is no follow-through or consequences for not satisfying this requirement. There is also the challenge of recruiting participants from minority groups for genetic and genomic research. Dr. Eyal suggested that trust between potential study participants and researchers is an important consideration and described the benefits of using trusted community groups for recruitment for research.
Questions surrounding the impact of genetic testing on existing healthcare disparities also arose during the discussion. The working group seemed to agree that genetic testing could potentially exacerbate healthcare disparities, as genetic testing may not be affordable or a priority for all. Dr. Sabatello provided the tangible example of Spinraza, an FDA-approved million-dollar drug for spinal muscular atrophy (SMA). The price tag attached to this highly effective treatment is therefore not readily available for all affected individuals. We also explored how we could promote healthcare equity by distributing this technology to all individuals equally. Dr. Sabatello pointed out that not all beneficiaries of Medicare and Medicaid have the same access to preventative services recommended for individuals with a specific genetic diagnosis as a result of genetic testing. There is also the ethical consideration that not all individuals may want to undergo genetic testing for various reasons.
The working group also acknowledged that current genomic databases consist predominantly of individuals of European descent. This inherent Eurocentric bias in the dataset makes genetic testing disproportionately beneficial for those of European descent. Because of this, there has been a huge push to increase the recruitment and involvement of groups underrepresented in genetics and genomics research. From this, there was a realization of a bigger issue that the very experts asking for minority groups’ participation often do not “practice what they preach.” The working group underscored that the experts are often the ones to decline genetic testing and genomic research participation due to concerns of privacy, confidentiality, and lack of transparency on how genetic information can be used once it is collected. These qualms are understandable for all, as informed consent can be modified at a later phase, and it must be considered that complete privacy may be difficult to attain. Dr. Young proposed that as genetic technology evolves, informed consent must also be regularly updated to accommodate various changes.
Throughout the working group discussion, we explored multiple aspects of genetic testing and research that have ethical and political challenges. We touched upon the topic of unequal access to the genetic testing and genetic research among ethnic minority groups, discussed what could be the reason behind such phenomena, and discussed privacy issues that arise with certain characteristics of genetic information, how they are stored, and how their information will be used. We explored what health benefits can be experienced from genetic testing, how we can ensure we provide complementary health services with genetic testing, and what can be done to improve patient engagement with genetic testing. There remain many areas with no clear-cut answers!
Blell, M., & Hunter, M. A. (2019). Direct-to-Consumer Genetic Testing's Red Herring: "Genetic Ancestry" and Personalized Medicine. Frontiers in medicine, 6, 48. https://doi.org/10.3389/fmed.2019.00048
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Mathieson, I., & Scally, A. (2020). What is ancestry? PLoS Genetics, 16(3). https://doi.org/10.1371/JOURNAL.PGEN.1008624
McAllister, S. L., Sun, K., & Gross, E. R. (2016). Developing precision medicine for people of East Asian descent. In Journal of Biomedical Science (Vol. 23, Issue 1). https://doi.org/10.1186/s12929-016-0299-3
Young, J. L., Mak, J., Stanley, T., Bass, M., Cho, M. K., & Tabor, H. K. (2021). Genetic counseling and testing for Asian Americans: a systematic review. In Genetics in Medicine (Vol. 23, Issue 8). https://doi.org/10.1038/s41436-021-01169-y