Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG
Each month, the editors of The American Journal of Human Genetics interview an author of a
recently published paper. This month we check in with Alice Popejoy (@AlicePopejoy on Twitter) to discuss her paper “Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures”.
AJHG: What prompted you to start working on this project?
Alice: Early in my career, I realized that science and medicine are not immune to societal influences that bias how research studies and clinical practices are conceptualized, conducted, and communicated to the public. So often, who is included in research (and who benefits) is shaped by the powers and privileges of those conducting research. For several years, I have felt deeply compelled to use the power and privilege that I have (as a highly educated, middle-class, white, heterosexual, cis-gendered person) to address systemic and institutionalized racism and inequality. While many who share this drive are activists and policy makers, my particular approach is research-based, using careful study design and data collection to illuminate complex phenomena such as the potential influences of racial biases in science and medicine.
This particular project is a continuation of my previous efforts to support under-represented groups in STEM fields as a science policy fellow, and my doctoral dissertation research, which included a study of diversity in GWAS samples. When I joined the Bustamante Lab in 2017, I was given the opportunity to examine these issues in the clinical genetics context through the NIH-funded Clinical Genome Resource (ClinGen). Through the ClinGen Ancestry & Diversity Working Group, I have had the pleasure of working with a group of highly respected scholars from a multitude of disciplines, and their contributions and feedback have been invaluable in the design and implementation of this study, as well as the interpretation of our results. The goal of our working group is to provide guidance for the clinical genetics community about appropriate uses of race, ethnicity, and ancestry in clinical variant interpretation and other clinical genetics practices. First, we needed to understand how clinical genetics professionals conceptualize and use this information in current practice, and that is precisely what this study begins to uncover.
AJHG: What about this paper/project most excites you?
Alice: What most excites me about this project is the momentum that we seem to be gaining as researchers and clinical genetics professionals become more aware of how biases and misconceptions (which are socially and culturally entrenched) influence the work that we do as scientists and healthcare providers. All of us want to be as unbiased and rigorous as possible, and I believe that the vast majority of researchers and clinicians are supportive of increasing diversity in genetics, to better serve our participants, patients, and communities. In order to accomplish that goal, we must collectively examine our traditional practices (such as classifying people into a small number of discrete racial categories) that may not be evidence-based.
What this study has to offer is a preliminary window into how such practices are playing out in the era of “precision” medicine, which is meant to serve patients more accurately, that may in fact reinforce harmful, outdated notions about biological underpinnings of race. Our findings show that while race, ethnicity, and ancestry are considered at least somewhat important for clinical genetics, most of our survey respondents had difficulty distinguishing among those terms and there was vast heterogeneity in the way they are conceptualized. Ultimately, we still have a lot of work to do (this is only the beginning) but I am optimistic that an increasing number of scientists and medical doctors will acknowledge this as an important line of inquiry and pursue their own internal examinations of racial biases and assumptions that could mitigate direct and indirect harms as a result of unexamined research approaches and medical practices.
AJHG: Thinking about the bigger picture, what implications do you see from this work for the larger human genetics community?
Alice: The implications of this work suggest that we have yet to fully realize how historical practices shape our research and clinical care in ways that may be causing harm to study participants and patients. As we seek to identify genetic factors leading to disease, we still tend to utilize ‘race’ or ‘ethnicity’ as proxy variables to control for genomic background and other potentially confounding factors that are difficult to measure. Unless these confounding factors of interest are related to the biological impact of experiencing racism, the use of ‘race’ in our models may yet be in question. Study populations in genetics research are often described and analyzed using broad racial and ethnic categories designed for the U.S. Census, based on self-reported information or based on the observations of researchers and healthcare providers. Results may then be reported in ways that reinforce racial stereotypes about biological differences between groups (which are in fact larger within canonical ‘racial’ groups than between them). It is critical that the use of any socio-culturally charged variables in research be evidence-based and scientifically justified. Furthermore, I believe that the entire human genetics community has an obligation to reconcile the historical missteps of our field in order to evolve the discipline towards greater inclusivity, transparency, accountability, and accessibility.
AJHG: What advice do you have for trainees/young scientists?
Alice: My advice for trainees and young scientists is to seek mentors and training that challenge you to think beyond your area of expertise. This will not only enrich your toolbox with skills that bridge methodological and theoretical approaches across disciplines, it will also help prepare you to become a leader in the interdisciplinary future of science. Also, stand up for what you believe is right, even (and especially) in science. While you may run into people who discourage you from following certain lines of inquiry because they are perceived (by them) to be too ‘complex’, ‘political’, or ‘pie-in-the-sky’, the beauty of scientific research is that any problem, no matter how large or daunting, can be broken down into its smallest parts and investigated with rigor. If you care deeply about what you are investigating, there will always be mentors to find (and those who will find you, if you’re lucky) who will lift you up and support your endeavors to build a career that feeds your soul while making important contributions to your field. You don’t have to know all the answers (no one does), you must be humble when you are wrong (which may be often), and rejections abound, but you can and should lean on trusted mentors who are more seasoned to help guide and point you in the right direction
AJHG: And for fun, tell us something about your life outside of the lab.
Alice: During graduate school, I did an apprenticeship to become a parkour coach and I enjoy teaching people how to interact with their environments safely and efficiently. I spend time outside of my research perfecting balance, vaults, climbing, and ukemi (the art of falling, safely). In many ways, there is a direct translation from the physical practice of jumping over obstacles to the lived experience of a being a young female scientist, which presents plenty of obstacles to overcome.
Alice Popejoy, PhD is a postdoctoral fellow at Stanford University. She has been a member of ASHG since 2014.