For decades, the idea that excavating the genetic origins of disease could transform treatment of the body has lived in the sea of public imagination, buoyant but as yet unrealized. The Human Genome Project, a landmark initiative undertaken between 1990 and 2003, identified and analyzed all the genes found in humans, and sowed the potential for new understanding of major illnesses. It engendered hope of a future in which genetic makeup could be the primary factor in determining a person’s care. Researchers could make endless shapes out of a sandbox of data that was blind to race—that problematic and omnipresent variable in the biomedical sphere.
But it is not a simple thing to scrub race from human tissue samples or from the minds of the experts seeking answers, and it remains stubbornly inextricable from genetic research. Investigating the history, intricacies, and implications of this is Dr. Sandra Soo-Jin Lee, a medical anthropologist and senior research scholar at the Center for Biomedical Ethics at Stanford University, who has been studying the role of race in genomic science since the late 1990s. One of her principal interests is biobanks—the various repositories of samples that scientists turn to to test their hypotheses. She identifies them as chronicles of society’s evolving efforts to distinguish between groups; the sorting and labeling of their contents are a collision of the biological and the sociopolitical. The result is the physical matter of thousands upon thousands of individuals demarcated by an inconsistent jumble of terms such as “nationality,” “ethnicity,” and “skin color.”
In her 2015 paper “The Biobank as Political Artifact: The Struggle Over Race in Categorizing Genetic Difference,” published in The Annals of the American Academy of Political and Social Science, Dr. Lee is forthright about the dangers of genetic studies built around samples identified by race. “The unqualified racial labeling of DNA that strips genes of the social context and experience of those who have donated these materials,” she writes, “allows for a pendulum shift in scientific discourse that racializes genes.” Race can end up standing in for factors, such as diet and environment, that go unaccounted for in gene-focused studies. The subsequent findings can then trickle down to affect how we explain differences in disease burden, create health policy, and progress toward eliminating health disparities between populations. With the term “precision medicine” on the rise, referring to a care model that translates insights around genetic variation into clinical practice, the need to inspect and augment how those insights come about has grown more urgent.
Dr. Lee’s work is in direct conversation with the fact that biomedical research has a history of mistreating bodies of color. Perhaps most famous is the story of Henrietta Lacks, an African American woman whose cells, obtained from tissue samples taken in 1951 without her or her family’s knowledge, were mass-produced, distributed to scientists around the world, and are still in use today. Consent may be mandated now, and public health officials are turning their attention to vast inequities across class and race, but the people who would stand to benefit from comprehensive reform may be the most hesitant to donate their cells to further a pipe dream of colorblind care. In a recent study, Dr. Lee engaged with patients from five racial and ethnic groups to explore what institutions can do to foster trusting relationships with research participants.
Crisscrossing a tapestry of ethical and sociocultural quandaries, Dr. Lee has examined the ideology of self-discovery peddled by direct-to-consumer genetic testing companies, and, along with Barbara A. Koenig and Sarah S. Richardson, co-edited Revisiting Race in a Genomic Age (Rutgers University Press, 2008), a collection of interdisciplinary essays about the interplay of emerging genomic technologies and notions of race and identity. We spoke by phone about the insidious presence of race in genetic research, the findings from her conversations with patients, and what has to happen to move scientific conversation and medical care to a place where bodies and the people within them can get the informed, individualized attention they deserve.
—Lynette Chiu for Guernica
Guernica: What led you to study the intersection of race and genomic science?
Sandra Soo-Jin Lee: I became interested because of my previous work looking at intra-Asian colonial identity and how markings on the body become really salient for institutions when they’re trying to make distinctions between populations. Some of my work looking at pre- and postcolonial identity in Japan led me into the area of race and genetics. I started looking through the different repositories that exist in the United States and became very interested in how they were constructed.
Guernica: How are biobanks created and what taxonomies within them make them “political artifacts”?
Sandra Soo-Jin Lee: Some repositories date back decades. Anthropologists have worked with various populations, and individual scientists have their own collections of genetic samples from populations they’ve worked with, and they’ve all ascribed certain group identifiers to those samples. The samples get amassed into a repository, and may be pooled together with other samples collected by other groups in a way that reflects the operating racial rubric. Pooling happens because you need a certain level of power—in the statistical sense—to be able to say anything about differences between groups. You can see how these racial labels change over time as the samples go through the pipeline. In the scientific literature, samples that were originally labeled in a very specific way may have become part of the Asian or African or European group in a very nonspecific way.
Guernica: In “The Biobank as Political Artifact” you cite an attempt by the National Institutes of Health to remove racial labels from samples and how scientists reacted to that.
Sandra Soo-Jin Lee: The NIH knew where the samples came from, but they didn’t want to have that information travel with the samples to the scientists. I interviewed scientists, geneticists, molecular biologists, and others about their views on this approach, and found that most scientists felt that that information was actually very important. But they couldn’t really articulate why and how that would impact the kinds of research questions they were pursuing.
Race gets taken up in genomic science in a very imprecise way. If the samples you receive are already ascribed a racial identifier, then race becomes a salient variable, even if you’re not thinking about race as operating in a particular way in your research. And while there’s acknowledgement that race—particularly in the United States—has shifted in meaning, and there are social scientists who’ve done great work showing that taking up race as a biological variable is very problematic, there is this kind of expectation that race is important.
Guernica: So there’s a mushiness around what race means in genetics.
Sandra Soo-Jin Lee: There is more expectation and hope that molecular medicine is going to produce answers to some of the most pressing questions around disease burden. We tend to focus so much on genes. We lose sight of all the other things that go into disparities.
Studies show that even in the case of diseases that are believed to be caused by single gene differences, the incidence and severity of the disease can vary dramatically. According to recent statistics from the National Cancer Institute, African Americans have higher cancer mortality rates than all other racial and ethnic groups and are more likely to die of breast cancer. Hispanic and African American women have significantly higher rates of cervical cancer. Hispanics, American Indians, and Asian Americans are more likely to die of liver and kidney cancer than whites. There could be many different reasons for these inequities, including uneven access to healthcare and screening, or the imbalance in research participation among minority populations. Differences in education and income can be correlated with health status. We’re learning that for many conditions and diseases, genes by themselves are not necessarily determinative. For complex diseases such as diabetes or cancer, two individuals with the same genetic profile may have different health outcomes depending on their environment and other social factors.
Guernica: Recently there was research done about how your ZIP code can be a bigger indicator of your health than other markers.
Sandra Soo-Jin Lee: There’s been some wonderful work to think about using ZIP codes as an alternative to race in terms of sampling, and trying to understand how the built environment can have such power in explaining disease burden. ZIP code can have significant impact. The factors that determine how people live—what types of food are available, whether there are parks and other dedicated and protected places for people to gather, how many health clinics are in the neighborhood, and whether people feel safe—create the context that interacts with genes.
Guernica: Historically, racial minorities have had their samples used without consent. People are now learning more about Henrietta Lacks.
Sandra Soo-Jin Lee: The story of Henrietta Lacks that Rebecca Skloot so skillfully amplified [in her book The Immortal Life of Henrietta Lacks] is an important event in terms of revealing to a broader audience what groups have experienced in biomedical research in the United States. The idea that you could take somebody’s tissue without asking and have it be so valuable in terms of research while the family of the person who donates it doesn’t even have health insurance—that speaks to the disconnect that many groups feel in terms of the healthcare system in general.
Guernica: How is that history part of people’s reticence to participate in research?
Sandra Soo-Jin Lee: In our study we found that people have basic questions about the value of participation, and the feeling that somehow it would come to hurt them in the end. Patients worry that there isn’t a good steward who is going to take their samples in a way that will protect them. We’ve been trying to brainstorm with different populations about what good oversight means in this context. Consent is so important in terms of asking permission, but it can’t stop there. The consent process can be one moment where you engage the patient and they say yes or no. This puts a lot of burden on the individual to try to imagine how their samples might be used in the future. Scientists can’t even imagine how they’re going to be used in five, ten, fifteen years. I think it’s unfair for us to ask patients to have that type of imagination and then be able to grant consent.
There needs to be a sense of ongoing oversight in terms of protecting the interests of patients who participate. There are questions around who is going to take on that role. Data is collected and it gets disseminated and it travels in ways that we can’t even imagine. There’s a kind of decentralization of responsibility. Fostering the relationship and understanding it as an ongoing relationship is the first step in building up trust, particularly among groups that have been abused in biomedical research. We found that patients across racial and ethnic populations expect transparent governance and ongoing oversight that includes not only [details] on how their information is used in research, but who has used their information and its impact on improving clinical care.
Guernica: What efforts are being made right now to have a more representative range of samples to study?
Sandra Soo-Jin Lee: The Precision Medicine Initiative (PMI) is a major endeavor. President Obama announced in 2015 that the government would be spending $215 million on it. One million volunteers from the US will donate their samples as well as their electronic health records. They’re also asking participants to volunteer some of their own data they might be collecting about themselves, such as through Fitbits, and other kinds of behavioral data that might be useful. It’s a Big Data project that includes genetic information.
They’ve identified diversity as a goal in terms of addressing some of the imbalance that we see in the current repositories. The hope is that they would be able to recruit underrepresented minority groups. This type of national initiative really relies on trying to explain and convince that this is a project that is going to be of value and benefit for everyone in the country, and that relies on increasing public trust.
Guernica: So we need to change public understanding of genetics, as it’s just one piece of starting to think more holistically about how to treat patients.
Sandra Soo-Jin Lee: There’s a lot of potential to integrate different types of data, and genetics is just one piece of that. And it may be a piece that’s fairly small compared to a lot of the other types of information we need to be accumulating and integrating. Genomic sequencing technology has become more sophisticated and less expensive, so we’re experiencing a technological imperative that we have to use these tools. If anything, we need to pan out a bit from this molecular focus and see what other pieces of information can actually have much more explanatory power about the questions we’re most interested in.
Many of our study participants, while they were supportive of a PMI approach, had some skepticism about whether or not researchers were collecting the right data and whether or not they were going to incorporate pertinent information around diet, around what many would call “folk” approaches to healthcare, or practices that were important to them and their families in terms of maintaining health. This information that often get pushed out as tertiary and not important needs to be part of the conversation. The translation of data into real, useful information will only happen when we start to think more broadly about what data should be incorporated.
Guernica: How could that approach start to permeate different institutions?
Sandra Soo-Jin Lee: What hasn’t happened is creating institutional pathways that will allow scientists from different disciplines to come together in a productive way. That relies on funding streams and real institutional leadership in terms of giving folks an opportunity to work together. It isn’t easy to collaborate. The way our universities are set up is highly siloed. We’re geographically distant from each other, and so there needs to be more innovative thinking about how to start speaking to each other.
Groups that have more direct contact with communities often get left out of the conversation, or they’re not funded to be part of the conversation. So making explicit efforts to bring them in as important stakeholders, not just in terms of policy and the things that happen after the research, but at the very beginning, when research questions are starting to get formed, and we start to prioritize our research agenda. All of that can be informed in a meaningful way if we bring in people who are part of these communities and understand them. If that were to happen, it would be incredibly powerful in terms of addressing what we have been seeing for decades now in terms of uneven burden of disease among populations.
Guernica: How can the media better report on genetics so as to avoid miscommunicating about the implications of research?
Sandra Soo-Jin Lee: There is a certain amount of responsibility to really understand the nuance of studies. Often, that nuance and the qualifications that scientists write into their scientific papers get lost when you have a very simple headline. It becomes very difficult for the public to understand what the relationship between race and genetics is, and it’s dangerous. It’s also somewhat the responsibility of scientists to make sure that their science is represented in a way that is most accurate to what they’ve actually shown.
Race takes on a particular relevance in the United States, given our history and also the political climate now. In science, we see the way race has become this enduring variable that explains things like oppression. It’s very powerful and it resonates, so there’s even more responsibility to use it carefully and to really uncouple and deconstruct what it’s a proxy for. While most people would argue that we need to break down what race is standing in for in those studies, that research doesn’t actually happen. So what we’re left with is race as this very crude proxy for difference that has all the power to explain issues that relate very directly to social justice. We need to really move beyond race.
Guernica: What do you think the future holds for the treatment of the body in genetic science?
Sandra Soo-Jin Lee: I’m hopeful that we’ll have a more integrated science where we look at things on the molecular level in conjunction with the built environment, and I think that would address issues of race more fully. There’s growing recognition that the genetics by itself is limited. We can look to our science to see that it’s telling us something but it’s not telling us enough.
The body is not just a landscape for genetics and physiology; it’s really the terrain in which one experiences the social world. So if we’re only looking at the body in terms of the DNA, and not looking at it in terms of absorbing life experience and history and inequality and stress and all of the different things that we experience in everyday life, then we’re really not understanding very much. The body can be a map for understanding group conflict, and institutional racism, and differences that really bear on our health. It’s really important that we start to think more holistically about the body and how it can reveal so much more.