It’s a summer Saturday morning and more than 160 people are packed into a windowless classroom beneath a Lower Manhattan street. Organizers had distributed the ad for the three-hour event just three weeks earlier. The goal was to gather people who identify as “Asian” on the U.S. census—and nearly everyone in the overcapacity room fits that label.
Attendees, the flyer says, will learn about precision medicine—a health care trend in which treatment and medication are tailored to an individual’s genes, environment and lifestyle. “Why is it that we’re all getting the same blood pressure pill, when it might work really well with one person and not the other?” event leader Colleen Leners asks the audience. Leners is the policy director for the American Association of Colleges of Nursing. Since mid-May she has been traveling across the country to lead enrollment efforts for a new federal governmentresearch project that is grounded in genetics and aims to overhaul the way health care is delivered.
To administer more precise care—in which headache medication would be as personalized as prescription eyeglasses—the project’s leaders say more research must be collected to represent the entire U.S. population. That is why Leners has ventured from her base in Washington, D.C., to New York City to introduce more people to the All of Us Research Program. Under the auspices of the National Institutes of Health the program seeks to collect the genetic, biographical and health information of at least one million U.S. residents over the next decade. Strict regulations prohibit the sale of this data, says Stephanie Devaney, the program’s deputy director, and the NIH can deny requests to share it with other government entities. Leners says the hope is that the program will be extended by several decades, even lifetimes.
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In theory,All of Us could provide the deepest, most representative medical research sample to date. Studies based on this diverse pool could help pave the way for precision medicine to become the new norm in health care. But attaining such a representative group means overcoming a history of unethical research practices that have left seeds of doubt in a number of communities. It also means addressing modern-day cultural barriers that have so far stifled enrollment from certain groups, including Asian-Americans.
Some geneticists, sociologists and anthropologists have also warned this research could perpetuate attitudes toward race and birthplace that are not grounded in scientific or medical reasoning. Leners knows these issues must be addressed quickly to ensure the program yields sound information about race and genetics; every day, hundreds of people across the country are uploading their information onto the “All of Us” portal.
Diversifying the Genome
Since the program’s launch on May 6, about 42,000 people across the country have provided their biographical information, health data stored in smartphone applications, and health records to the NIH via an online portal. As more enroll, the All of Us team will solicit urine, blood and saliva samples from select individuals who will be chosen “based on the desire for demographic diversity,” according to the project’s official protocol. Once more participants enroll, the project’s administrators plan to tap people who have been underrepresented in previous medical research to provide samples. About 75 percent of those who have enrolled so far fit this bill, according to Yasmin Kloth, senior digital communications strategist for the program.
At its core, this first-of-its-kind project aims to make health advances by studying the human genome. There are 30,000-plus genes in the human body, dispersed within trillions of cells. These genes produce proteins responsible for everything from eye color to risk for certain diseases. A single mutation in a gene can make it crank out proteins that cause cancerous tumors, blood disorders or memory-destroying conditions like Alzheimer’s disease. In the last few years gene-editing technology has enabled scientists to identify certain life-threatening mutations and remove them. But for progress to continue—and for it to benefit more of the population—many researchers have concluded it is critical to research the genetic makeup of different groups of people.
That’s where experts like Leners come in. Before leading the New York City session geared toward Asian-Americans, she had spent the previous week in a small Louisiana city with a predominately black population, and would next travel to a rural West Virginia town where poverty runs high. During these presentations she digs into the government’s imperfect research history, emphasizing the need for action today to address the long history of racial discrimination and exploitation in medical research
Throughout much of medical and genetics history, “most of our research was tailored around old white men,” Leners says. So, she adds, many current medical treatments and diagnoses are informed by what worked well in that population. A 2009 analysis of more than 1,000 gene-centered studies found 96 percent of participants were of European descent. Asians—like those who attended the Saturday session in New York—make up close to 6 percent of the U.S. population but have accounted for as little as 0.1 percent of participants in genetics-centered clinical trials, according to a review study published in 2014 in PLOS Clinical Trials. Two-plus months into the All of Us launch, Asians account for 3.5 percent of the 42,000 enrollees—still only about half of their population proportion. “A lot of times people say [Asian-Americans] are hard to reach, but they are just hardly reached,” says Jacquelyn Taylor, an associate professor of health equity at New York University who has led genetics-based research trials and studies the relationship between genomics and social factors.
Bora Lee, one of the people attending the recent Manhattan meeting, marvels at the turnout and says it shows underrepresented communities want to be more engaged. This opportunity, however, is not always there. “A lot of times people reach out to us because they need extra groups,” Lee says, “and we’re kind of the afterthought.”
Now, as Leners sees it, first-generation Asian-Americans have the chance to make medical history. Yet Lee, 26, enters the session with a dose of skepticism. She was born into a cultural era marred by misinformed health assumptions about Asian-Americans; the first that comes to her mind is a pigmentation condition medically known as congenital dermal melanocytosis but still commonly called “Mongolian spots.” About 90 percent of people descended from some Asian countries are born with this clustered pigmentation, usually on their bottoms or backs. These bluish-looking markings usually fade after a few years. Although the condition is most prevalent among Asians, it also occasionally manifests in people of African descent as well as in a few who are white or Hispanic. But many doctors were still unaware of these birthmarks when recent waves of people from Asia immigrated to the U.S. “It scared a lot of nurses and doctors who had never delivered an Asian infant before,” Lee says. “People thought it was a disease. They did a lot of medical testing in response to that, and that made a lot of people wary of doctors.” In the last decade local news outlets have reported teachers mistaking the pigmentation for signs of possible domestic abuse and calling the authorities. If the research that emerges from All of Us involves conditions that occur mainly in certain populations, it could help ease such misunderstandings.
Leners’s hour-plus presentation was meant to address misinformation and attempt to clarify skepticism toward the same health care system that has confused “Mongolian spots” for a disease and signpost for abuse. But even if Leners can use her platform to assuage concerns about the U.S. medical system, logistical barriers stand in the way of enrollment. Not only do All of Us participants need a device with an internet connection; they must also speak English or Spanish to navigate the NIH portal. There were people in Saturday’s session who spoke neither. “Why don’t you add more languages to the portal?” one woman asked on behalf of attendees after Leners’s session, where Mandarin, Hindi and Japanese were just some of the native tongues represented. Kloth said they are working on adding more languages into the portal, but have not yet have a set timeline for this.
The Problem of “Race”
Sweeping differences within the Asian population living in the U.S. point to a bigger conceptual issue that some experts raise when it comes to All of Us: the conflation of race with genetics. “There’s an interesting tension here,” says Catherine Lee, a sociology professor at Rutgers University who is not involved in All of Us. “The project says they are trying to get individuals to participate because they want to understand the unique characteristics of individuals. But then, during the recruitment phase, you are going to lump them into these categories that are influenced by hundreds of years of race, and thousands of years of colonialism.” Even the term “Asian,” as defined by the U.S. Census Bureau, only includes people originating in east Asia, Southeast Asia or the Indian subcontinent. People born elsewhere on the Asian continent—such as Turkey, Afghanistan or Iran—are not considered “Asian” on the U.S. census. The official Census Web site states its racial categories “reflect a social definition of race recognized in this country and not an attempt to define race biologically, anthropologically or genetically.”
There is broad scientific consensus that when it comes to genes there is just as much diversity within racial and ethnic groups as there is across them. Testing the genetic makeup of five people who classify themselves as white and five who consider themselves Asian would not necessarily return results that would group them into the classifications they identify with. Genes contain so much information that, depending on the type of genetic test conducted, different groupings would result. Catherine Bliss, a sociologist at the University of California, San Francisco, and author of Race Decoded: The Genetic Fight for Social Justice who is not part of All of Us, says that for the program to attain true genetic diversity, outreach efforts should be based in blind sampling without taking into account people’s social identifiers. “You’d have to go picking people all over the place and see what comes up as shared traits,” she says. “It’s done when testing other species but it’s not done in human testing because of political reasons.”
All of Us’s Devaney, who was part of Pres. Barack Obama’s Precision Medicine Initiative, recognizes the group is working within nuanced implications and limited constructs. “We started with self-identification of race because it’s the best marker we have at the moment,” she says. “I imagine we will learn a lot about genetic variability and race.”
For now, the All of Us team plans to screen all research requests that could potentially stigmatize racial groups. If a researcher wants to analyze diabetes in people from South Korea, for example, he or she would be urged to submit a note to an oversight board, which would then coordinate with the researcher to ensure the work does not perpetuate false ideas about race and genetics. “Depending on how [All of Us] is collecting this information and how the research is carried out, this has the potential to significantly shape what we mean by ethnicity and race in this country,” says Rutgers’s Lee. If a genetic study is conducted based on this research, and if the findings cluster racially diverse people into similar genetic categories, we may begin to redefine classifications. “It’s not just about being politically correct—it’s about the correct science,” notes Nancy Krieger, a professor of social epidemiology at Harvard University who is unaffiliated with the program.
Robert Klitzman, director of Columbia University’s Bioethics program and not part of All of Us, worries about privacy issues arising from the database—but he also sees it as an opportunity to expand people’s basic understanding of humanity. “We’re going to now sequence one million people,” he says. “What is the health outcome going to be? We don’t really know yet.”
For her part, Bora Lee plans to enroll in All of Us—and has encouraged her family members to do so as well. Ultimately, she says, what she wants is to advance the possibility people like her will one day receive better, more personalized medical care.