Precision Medicine Is Too White
Precision medicine has a bit of a “what can’t it do?” allure. Defined as “an approach for protecting health and treating disease that takes into account a person’s genes, behaviors, and environment,” it aims to help people get the right treatment, in the right dose, at the right time.
It’s something most of the public is open to: Only 1% of respondents to a survey commissioned by the Personalized Medicine Coalition and GenomeWeb reacted negatively to precision medicine. And it’s certainly the way of the future, with governmental support and technological advances moving the field forward and contributing to a $216.75 billion global market value by 2028, as predicted by a BIS Research report.
But all of this excitement and appeal distracts from a major flaw in today’s precision medicine efforts: Its lack of racial and ethnic diversity in the data, as well as in the teams doing the research.
“We need to have more inclusion of ethnically diverse people in humans genetics research so we can maximize the benefit from precision medicine,” says Sarah Tishkoff, PhD, a human geneticist at the Perelman School of Medicine at the University of Pennsylvania.
And if this doesn’t change, the field won’t live up to its potential and serve as many people as possible, she says.
Much of the data currently used in precision medicine comes from genomic data collection programs. Participants share information about their lifestyle and medical history, and may also provide blood and urine samples. Scientists then analyze that info, looking for genomic variations in a large number of people to find any association between genes and certain traits or diseases. The goal is to develop a genetic risk score which healthcare providers can use to recommend specific medications, lifestyle changes, or more frequent checkups to prevent or manage conditions.
But as of 2018, 78% of the people included in genome-wide association studies were of European descent, according to an analysis published in Cell last year. A paltry 10% were Asian, and Africans and Hispanics barely made a blip on the radar, making up 2% and 1% of individuals in these studies, respectively. All other ethnic groups don’t even constitute 1%.
“We are missing out on important information that can help everybody,” says Tishkoff, who co-authored the study. Since most of the data collection and research has been done on Europeans, scientists are underestimating the health risk minority populations may be at, Tishkoff says. “But more importantly, in different ethnic groups, there may be different genetic risk factors, and we are not even finding them because they’re not included in the testing.”
“The public may be skeptical that the call for diversity is some kind of political correctness or just about diversity for diversity’s sake. That could not be farther from the truth,” says Sandra Soo-Jin Lee, PhD, chief of the Division of Ethics and Faculty in the Department of Medical Humanities and Ethics at Vagelos College of Physicians and Surgeons at Columbia University. “It’s really hurting our science. The resources available are so skewed, it threatens the potential for precision medication to be applicable to all populations.”
Why precision medicine is currently so white is multi-faceted.
“Racism is a fundamental cause of health inequity. This is one more place where we see it playing out,” says Rachel Hardeman, PhD, MPH, assistant professor of health policy and management at the University of Minnesota School of Public Health.
The fact that precision medicine is not representative of the U.S. population is mainly a “failure of those who are really at the forefront of this movement to address the historical realities that prevent people of color from participating in these studies,” Hardeman says. In minorities, that can result in skepticism and mistrust toward science in general.
“Being thoughtful about the history of racism in healthcare and what it means is critical to moving precision medicine forward.”
There’s already mistrust of minorities toward research and the medical community because of past injustices. In one of the most notorious historical examples, the Tuskegee Syphilis Study conducted between 1932 and 1972, researchers didn’t give the participants — all black men — adequate information about the study. Therefore, they could not give informed consent to participate. Adding insult to injury, the men were not given proper treatment for syphilis and were not allowed to drop out.
Additionally, there’s the question of access to precision medicine due to high costs. Who would take the time and share personal information if they thought they would not benefit from the outcome of the studies? “People expect that their participation will translate to better care for themselves, their family, and their community,” Lee says.
Another concern of many minorities is what will happen to their data. Could it be shared without authority with other entities such as health insurance providers, pharmaceutical companies, and biotech startups? “There’s concern around how this data and, in particular, genetic information, may be used for law enforcement and even immigration,” adds Lee, who recently wrote an article for the journal Science about the need for inclusion in precision medicine.
Being thoughtful about the history of racism in healthcare and what it means is critical to moving precision medicine forward, Hardeman says. But the changes necessary to increase diversity in healthcare won’t happen overnight. “It takes time — probably a lot more time and investment than unfortunately researchers are willing to put in, myself included,” she says.
One of the first steps in making precision medicine more diverse is being mindful of the issue when designing the studies. “You have to make it a priority and be proactive: ‘I will go and include ethnically diverse populations,’” Tishkoff says. And this needs to be done in a way that respects people’s rights and personal beliefs, because each community has different concerns, she adds.
For example, some may not want genetic studies performed for religious reasons and others may require getting the entire community’s consent. Hardeman even suggests flipping the model of how research is conducted: Start by talking to communities about the research and let them drive how the work is done, rather than letting scientists lead the way.
One big genomic data collection program attempting to reflect more diversity is the “All of Us” project at the National Institutes of Health. The NIH aims to collect data from one million Americans. As of August 17, more than 187,000 people had completed all of all the initial steps of the program, including providing consent, sharing access to their electronic health records, completing three surveys, and submitting physical measurements and biosamples.
All of Us wants to have the data reflect the ethnic diversity of the United States. To that effort, they have a network of trusted partner organizations around the country helping raise awareness locally to support enrollment and retention. They include health care provider organizations and community engagement partners, among others.
So far, almost half of the participants in All of Us identify as white. 21% are black or African American, 17% are Hispanic Latino or Spanish, and 3% are Asian. The remaining participants identified as other, multi-racial, or did not provide their ethnicity.
All of Us also uses two traveling exhibits to help expand access to the program to even more communities across the country. “In addition, we have a diverse set of participant representatives involved in the program’s central governance and in local advisory groups of partner institutions nationwide. These participants help support the design and implementation of All of Us and share ongoing feedback from different communities,” says Alyssa Cotler, MPH, director of communications and marketing for the All of Us Research Program.
Making an effort to increase ethnic diversity in all fields associated with precision medicine can increase trust with minorities and encourage younger generations to pursue a career in precision medicine, leading to long-term diversity, she says. “When people see others in the field who look like them, they are more open to considering being in that field.”
Lee acknowledges that there’s a lot of work to be done. And both she and Tishkoff note that genetics isn’t everything when it comes to precision medicine. “There are socio-environmental factors that lead to health disparities,” Tishkoff says. “But there can be a genetic predisposition that, when together with a certain environment, can put someone at risk for disease.”
Diversity in all sense of the word is important to maximize the benefits of precision medicine for all people, according to Tishkoff. “When you include more genetically diverse populations, you get more information about the cause of the disease that benefits all of us.”