This is a guest post by Miguel Guardado 1st year biomedical informatics student, Biological and Medical Informatics Graduate Program (BMI) at UCSF
The use of race and ancestry in genetic research. What do reparations look like?
The use of race/ethnicity as a variable in medicine and science is a highly debated topic, with a clear history of being used as a mechanism for racism in wanting to establish biological differences in a race to uphold white supremacy. To fully address why race is needed inside biological research, we need to preface this conversation on the impact eugenics left inside the academic institution. Understanding why race was created and used in eugenics needs to remind us of what this type of thinking represents. In this reflection of the class I have been a part of for the past three weeks, I will explain why race and ethnicity are essential to medical research. We need to understand how systemic racism will tell us social detainment of health, essential in understanding non-genetical interaction inside various diseases and their progression. A person’s race is not tied to biological traits and cannot be used to establish the genetic basis of disease, which eugenics sought so hard to achieve. Instead, we need to focus on an individual’s genetic ancestry and using this term separately to establish genetic relatedness and how this can also impact diseases. Overall, I argue that we need genetic ancestry and race-conscious thinking to uncover the underlying causes of various diseases, which will help reduce disparities in the medical system.
Unfortunately, this basis of using race inside science and medicine has been one of the prominent scars and legacy left by eugenics in the early 19th century. Fundamentally this field was established in the idea that a person’s genes determine their traits. Some of these trait variants are more valuable than the others, with clear implications on establishing white people’s genes as superior.1 This field grew significant traction in the early 19th century, with famous mathematicians such as R. A Fisher, Karl Pearson, Francis Galton adding mathematical rigor to these ideas. I cannot describe all the horrors this field had, but the idea of adding mathematical and scientific rigor to establishing biological differences in the race lead to political and social impact that still last to this day. These ideas did not die in the late ’50s when these courses disappeared post WW2, the people who were educators in this field needed to transition to something that seemed more “woke,” still passing on generations of knowledge that these population differences were biological and somehow race was tied in this. How does published scientific records of white individuals’ genes being superior affect generations of people of color who were taught our entire existence is “scientifically” inferior? How does a generation of people recover when forced sterilization was done on black and brown people with a eugenics framework? This generational trauma leaves scars that affect us to this day! The field I sit inside today, population and human genetics, came from a field that was a predecessor of eugenics training. However, being reminded of this reality is needed to entirely reject this branch of science and understand the scars race-based biology has made to the BIPOC community here in the United States.
Therefore, tackling race/ethnicity inside genetics research has the stakes it does to get this answer right. Having generations of people taught and believing that genetics is tied to an individuals’ race and why we can see why there is so much mistrust in using these ideas in science correctly. We must be accountable to the past of eugenics as scientists and help engage with every community here in America who have scars from this framework of thinking. Race and ethnicity have both been used as social constructs for categorizing people based on perceived distances and cultural ties. The concept of race is constructed as a tool to categorize people to validate racism2. Understanding how living in a society built on institutionalized racism, how it intersects with access to health care, and many other systemic barriers are why we need to have a lens of the race inside medicine. We must not have a colorblind approach to looking at race inside medicine, but we must not confuse that race is biological, but rather racism. Some factors are not biological in understanding the progression of diseases, such as living in a food desert, having proper access to water, or proper access to health care, impacting how a disease is the onset and develops. We must do a better job as researchers in our field to define better variables and terms to predict the actual outcome rather than the direct use of a race-specific variable. Suppose we are conducting a study, and we find that race is a clear signal in our model. In that case, we must do a better job to explain the underlying structure in that variable that is tied to system racism to rightfully eliminate the direct use of a race variable in clinical practice. Trying to understand non-genetic causes of health inequities across different racial, ethnic groups, community efforts, and outreach is essential to finding the connections to disparities and treatment.
Genetic Ancestry, on the other hand, can be derived of a ‘subset of paths through it by which the material in your genome has been inherited’.3 Genetic Ancestry tries to estimate individuals who share genealogical ancestry or find identifiable ancestors in a family tree or pedigree. Being reminded that we are one human species, knowing we all have shared common ancestors can help us understand why we need to take care of what genetic ancestry can tell us about the underlying genetic architecture that can affect biological traits removed of the notion of race and ethnicity. Mathematically speaking, genetic ancestry is seen as a continuum, representing that this term is used under a measure that can never be fully used to derive detailed categories of different population groups since we all at one point came from a common ancestor. There is much benefit to looking across different “population ancestral groups” when doing genetic research studies because looking at genetic signals found in European ancestral groups will not always correspond to the same signal in other population groups. In all reality, when trying to take a continuous variable of genetic ancestry and condense it to a set of population group categories, there will always miss out on the groups that are underrepresented in that cohort. We must be reminded that the algorithmic nature of this type of clustering analysis is always arbitrary choices made by the scientist and that these groups do not represent an actual population. This, however, does not undermine the field of population genetics and understanding how the complex human architecture contributes to various biological diseases and how important it is to get the diversity of participants from all backgrounds into these studies. Disparities are present inside this field, with most genetic findings we have only for people of European ancestry.4 We need to be careful about what claims we make based on genetic ancestry and understanding how they are independent of race and ethnicity.
There can be a correlation between genetic ancestry and race but understanding what both factors are telling us and how they are both needed to eliminate disparities. Understanding the social aspect of diseases and why racism is a biological variable acknowledges the use of community-led research and why we need more community lead engagement. We also need to gain more trust with these communities, based on generations of systemic racism leading to this massive distrust. Increasing the diversity of black scientists and doctors and creating an environment that retains them in academia and medicine is a great place to start.5 As scientists, we must reject making claims about race being biological and understand the social constructs that make racial groups suffer at disproportionate rates. If we ever want to solve this disparity, we need to accept the dark history of science and the harm it caused to Black people and make the proper reparations.
This is a topic I am very engaged to learn over the course of my PhD, any feedback or comments are welcomed.
- Understanding our eugenic past to take steps towards scientific accountability https://genestogenomes.org/understanding-our-eugenic-past-to-take-steps-towards-scientific-accountability/
- UCSF DEI primer https://mentoring.ucsf.edu/dei-resources
- What is ancestry? https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082057/
- Analysis of polygenic risk score usage and performance in diverse human populations https://www.nature.com/articles/s41467-019-11112-0
- Why Black doctors like me are leaving faculty positions in academic medical centers https://www.statnews.com/2020/01/16/black-doctors-leaving-faculty-positions-academic-medical-centers/
- A Time for Reckoning with Racism https://www.nejm.org/doi/full/10.1056/NEJMms2029562
- U.S. Scientists’ Role in the Eugenics Movement (1907–1939): A Contemporary Biologist’s Perspective https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757926/