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.
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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.