Abstract
In June 2020, as protests against the white police officers who murdered George Floyd, Breonna Taylor, and countless African Americans swept social media feeds and city streets across America, the genetics community saw the release of heartfelt statements by its leaders in academic institutions, professional societies, and even direct-to-consumer testing companies, voicing solidarity with the Black Lives Matter movement. The National Society of Genetic Counselors (NSGC) called for meaningful action to challenge systemic injustice in the genetics community, listing NSGC's scheduled discussions to talk about race, its diversity-focused task force and advisory group, and its search for antiracism and allyship courses to train its members (23andMe, 2020; American Society of Human Genetics, 2020; National Society of Genetic Counselors, 2020a, 2020b).
Yet it is hard not to be skeptical about potential progress in “diversity and inclusion” through these discussions or through naming it as a longstanding tenet of their mission. The NSGC has long recognized the lack of underrepresented populations in the profession; its 1992 Professional Status Survey reported 92.6% Caucasian membership. Unfortunately, 28 years later, not much has changed: the 2020 Professional Status Survey reports NSGC members 90% white, with no minority group exceeding 5% representation (National Society of Genetic Counselors, 2020c). Why has this not changed? What percentage of non-Caucasians apply to the counseling programs? Or do genetic counselors from underrepresented communities not apply for membership in NSGC? What has NSGC done to concretely address these issues and have these interventions failed, such that the percentage is largely the same ∼30 years later?
Regarding Asian Americans and the all-inclusive future of precision medicine that health care providers inevitably look forward to, it is troubling that the concerns that Jane S. Lin-Fu raises in her 1998 article are the very same questions resurfacing in the genetics community today (Lin-Fu, 1998). Lin-Fu asks whether genetic disorders and disease variants in Asian American and Pacific Islander populations would receive adequate attention, or whether the public health needs of minority groups would be neglected, while genomic medicine rapidly advances. According to a recent analysis of Census Bureau data by the Pew Research Center, the fastest growing racial group in the U.S. electorate—the population of U.S. citizens ages 18 years and older—is Asian Americans (Pew Research Center, 2020). The Pew Research Center also projected that in just 35 years, Asians will be the largest immigrant group in America (Pew Research Center, 2015). As public health leaders seek to renovate the U.S. health care system after its failures in responding to COVID-19, namely the pandemic's disproportionate impact on American Indian/Alaska Native, black, and Hispanic populations, they must realize that it is a matter of when and not if they will have to confront the health burdens of a rising Asian population.
It is important to realize that Asians are not a homogeneous group, despite how most research studies and databases may lump its diverse subgroups under the category of “Asian” or “Other.” Significant variations exist at the education level and socioeconomic and health statuses across this heterogeneous community. Tailoring to the health concerns of these diverse subgroups can be an overwhelming task. Thus, when confronting the challenges of dealing with Asian patients, health professionals and researchers have eagerly tackled the more surface-level problem of cultural difference (Agather et al., 2017; Chen et al., 2012; Halbert and Harrison, 2018; Mattson and Lew, 1992). They cite cultural barriers as among the reasons that hinder research recruitment or uptake of genetic services such as screening. They pat themselves on the back when they take a course about cultural sensitivity or find cultural brokers to help them connect with their patients, either through medical interpreters or through speakers invited to educate others about the hardships of their minoritized communities. But how sustainable is it to implement cultural brokerism as the standard strategy for increasing health care engagement with Asian Americans? Although academic institutions pursue this honest endeavor, Asian American professionals and their Black, indigenous, and people of color (BIPOC) colleagues end up bearing the brunt of the burden as they advise on various diversity task forces and committees, provide specialized services to under-resourced communities of color, all while being expected to operate at the same level of professionalism and efficiency as their white colleagues.
Perhaps a more exacting question that the genetics community needs to ask itself is “What changes take place when the cultural barriers between the Asian patient and his or her provider are eliminated?” For example, consider an Asian patient who has fully acculturated into American culture. Does Asian American acceptance of and access to genetic testing improve the quality of the health care they receive?
Unfortunately, systemic racism in the practice of genetics and genetic health care does not disappear when a provider becomes culturally aware of his or her patient. To put it simply, one cannot afford to be “color-blind” in genetics. An article studying Southeast and East Asian American women's attitudes toward prenatal genetic testing reports that some women were more likely to recommend testing for a condition if the test was—unsurprisingly—highly accurate (as opposed to recommending testing if the probability of the diagnosis of the condition tested was high) (Tsai et al., 2017). But the reality is that even when the Asian woman takes up the testing, it most likely cannot tell her anything useful about the diagnosis of her future baby. The reason is deeply rooted in genetic research that for so long has been based on European risk models. The headlining discoveries that are the pride of genetic researchers are not as generalizable to the nonwhite population as one would hope.
For example, newborn health screenings are implemented nationwide, as an early diagnosis improves care. But how effective are these tests for Asians (National Conference of State Legislatures, 2017)? Looking only at cystic fibrosis (CF) that is commonly tested in newborn screening, racial and ethnic subgroups have distinct genetic variants that cause CF that are not common mutations in Caucasian populations (Brice et al., 2007). Using CFTR2 and U.K. CF databases, a study found that Asian ancestry significantly affected key traits used to diagnose CF, including a lower chloride level in sweat and distinct mutations from the majority Caucasian population. One consequence of this is that 55% of Asian CF patients do not have one mutation included in the United Kingdom's routine newborn screening panel (Bosch et al., 2017).
Or, consider the Cancer Genome Atlas program that has sequenced >20,000 cancer samples since 2005 to revolutionize cancer treatment through genomics. One study analyzed the samples from 10 of the 31 tumor types available at the time to determine how racial and ethnic minorities were represented in the database. Researchers found that only 3% of the total samples were Asian (compared with 77% white, 12% black, 3% Hispanic, and <0.5% Native Hawaiian, Pacific Islander, Alaskan Native, or American Indian combined). More strikingly, tumor sample sizes for all racial minorities were inadequate for researchers to even detect a mutational frequency of 5% in any cancer type, whereas the sample size for white patients was adequate to detect a 10% mutational frequency, allowing them to detect a 5% mutational frequency in most of the tumor types studied (Spratt et al., 2016). Further research that relies on genome databases that drastically under-represent BIPOC will serve only white patients.
Ultimately, these studies reveal that moving forward in the “diversity and inclusion” mission means addressing representation issues embedded in the practice of genetics itself. Even if the culturally aware provider finds the right words to help the Asian patient decide on genetic testing, what sensitive words can the provider use to help the patient accept that their genetic test results are probably obsolete, given their minority status in the country? Research recruitment efforts that do not keep up with cultural competency training and diversity task force formations exacerbate the problem of engaging Asians with public health genetics.
Genetic testing must be designed for everyone, but researchers must also be cognizant of the fine line between framing genetic variants in ethnic groups as evidence of prevalence versus predisposition for diseases, and the significance of socioeconomic factors on health. Frankly, the genetics community has already been confronted with these concerns from racial and ethnic minorities. It has already pushed out diversity and inclusion statements, before adding them to trendy Twitter tags and Zoom webinars. Rather than dragging these problems into future decades and engagement platforms, we need to see results. A recent genome-wide association study showed promising results for discovering novel variants for complex traits in diverse populations, showing us that inclusive research can be done (Wojcik et al., 2019). What we do not need are performative actions that reduce the mission of “diversity and inclusion” to a half-hearted response of “thoughts and prayers” for under-represented populations in genetic research.