The most profound revolution in biomedical research isn't happening in a petri dish—it's in how we categorize the people in our studies.
In 2025, a landmark government study revealed a truth that would reshape medical research: Americans' self-reported race is a poor proxy for their genetic ancestry. The National Institutes of Health's "All of Us" research program analyzed the genomes of over 200,000 participants and found that the racial categories long used in medicine don't align neatly with our DNA 7 . This discovery arrived amid a heated national debate about the role of racial categories in research, with major scientific bodies calling for a fundamental rethinking of practices that have persisted for decades.
For centuries, medical research has operated under assumptions about racial biology that are now being dismantled by both genetic science and a deeper understanding of society. As one researcher noted, "The clear message here is that these are two distinct constructs, they mean different things, and they should not be used interchangeably" 7 . This article explores how this paradigm shift is transforming biomedical research and what it means for the future of health equity.
The completion of the Human Genome Project in 2003 revealed that humans are 99.9% identical at the DNA level and that race has no genetic basis 1 . Despite this, racial categories have continued to permeate biomedical research, often in problematic ways.
The fundamental issue lies in treating race as a biological variable rather than what it is—a sociopolitical construct. As the National Academies of Sciences, Engineering, and Medicine (NASEM) explained in their 2025 report "Rethinking Race and Ethnicity in Biomedical Research," this confusion begins with how we define these categories 1 3 .
Historically, race has been weaponized through "race science," which posited that humans could be divided into biologically separate groups with distinct physical and mental characteristics. Decades of genomic research have proven this false, showing that genetic variation among populations follows overlapping, continuous distributions rather than discrete racial categories 1 .
Has been misrepresented as a "Black disease," despite affecting diverse populations from Afghanistan, Greece, India, and Turkey 1 .
For kidney function historically used different calculations for Black patients, potentially delaying specialist referrals 4 .
Has perpetuated false biological assumptions, such as beliefs that Black people have thicker skin or feel less pain 9 .
Sickle cell disease, racialized as affecting primarily Black populations, receives less research funding than cystic fibrosis, which has been labeled as primarily affecting White people 1 .
The 2025 NIH study published in the American Journal of Human Genetics represents a watershed moment in this debate. Using the massive "All of Us" cohort—designed to better represent the U.S. population—researchers systematically compared self-reported race with genetic ancestry data 7 .
The research team analyzed the genomes of more than 200,000 participants, creating one of the most comprehensive studies of its kind. Their approach included:
One particularly revealing analysis used body mass index (BMI) to demonstrate the limitations of broad racial categories. Researchers found that those with West African ancestry were predisposed to higher BMI, while those with East African ancestry were predisposed to lower BMI—a distinction completely lost when both groups were lumped together as "African" in racial categorization 7 .
| Self-Reported Race | Genetic Ancestry Findings | Key Implications |
|---|---|---|
| African American | Varied proportions of West African, East African, and other ancestries | "African" category masks important genetic diversity relevant to health |
| Latino/Hispanic | Highly diverse genetic backgrounds with varying indigenous American, European, and African ancestry | Socially defined group doesn't map neatly onto genetic ancestry |
| Asian | Distinct genetic profiles for South Asian, East Asian, and Southeast Asian populations | Lumping nearly 60% of world's population into one category masks disparities |
| White | Considerable genetic variation across European subpopulations | "Caucasian" category overlooks important population substructures |
The findings were striking in their consistency across multiple analyses:
Self-identified race proved to be a poor proxy for genetic ancestry across all categories
Significant regional variations emerged in how people identify racially
Latinos showed diverse genetic backgrounds that don't align with uniform health risks 7
The study's lead author, Charles Rotimi, summarized the implications: "When we use concepts as broad as European or Africans or Asians, we distort our understanding of genetic variation, and that distortion can put individuals at risk when we try to prescribe medicine or when we try to treat them" 7 .
As the limitations of traditional racial categories become undeniable, researchers are developing more nuanced approaches. The 2025 NASEM report outlines several key tools and frameworks for improving biomedical research 3 6 .
Ensures racial categories are used purposefully rather than by default. Pre-registering analysis plans that specify why race/ethnicity is relevant to the research question.
Incorporates lived experience and builds trust with underrepresented communities. Partnering with community organizations from research design through dissemination.
Clarifies what race/ethnicity categories actually measure in a given study. Specifying whether race data came from self-report, electronic records, or researcher observation.
Examines how race interacts with other social factors. Analyzing how racism, socioeconomic status, and environmental exposures collectively influence health.
The NASEM report emphasizes that collecting race and ethnicity data remains important for monitoring health disparities and ensuring diverse representation, but requires "intentionality at every step of the research process" 9 .
"Using race and ethnicity can be appropriate, but it's context dependent. If researchers are going to use race and ethnicity, they should be clear about why, and if they are using it to study health disparities, they should think about including other causes of that, such as racism or social determinants of health" 9 .
Despite the challenges, clear progress is emerging across the biomedical research landscape:
A 2025 analysis of ophthalmology journals found substantial nonadherence to reporting guidelines, with only 55.8% of articles properly distinguishing between race and ethnicity, and 12.6% still using the problematic term "Caucasian" 5 .
The debate over racial and ethnic categories in biomedical research is evolving from whether we should change our approach to how we will implement better methods. As the scientific community grapples with this complexity, what emerges is a more sophisticated understanding of human diversity—one that acknowledges the social reality of race while avoiding biological essentialism.
The ultimate goal is not to eliminate racial and ethnic data from research, but to use these categories more thoughtfully and precisely. As the NASEM report concludes, "Using race and ethnicity can be appropriate, but it's context dependent" 9 . By developing more nuanced frameworks, the biomedical research community can better serve both scientific truth and health equity.
The path forward requires collaboration across the entire research ecosystem—from funders and institutions to journal editors and individual scientists. As one researcher put it, "We're not saying this because we're a bunch of woke, leftist scientists, we are saying this because this is going to improve the science that we're doing" 7 . In the end, that better science will lead to better medicine for everyone, regardless of how they check a box.
Moving beyond broad racial categories to precise genetic ancestry
Ensuring research benefits all populations equitably
Improving research methodology for more accurate results