COVID-19 has put race-based health disparities on full display, but such inequities extend far deeper than the current pandemic. An enduring challenge for physicians and scientific researchers has been to distinguish health differences that result from genetic predispositions from those that arise due to environmental or social influences.
In a new commentary in the Journal of Clinical Investigation, experts from the University of Pennsylvania and Case Western Reserve University provide a historical context and contemporary examples of what they call the “quagmire” surrounding race and genetic ancestry when it comes to identifying—and preventing—health disparities.
Giorgio Sirugo, a senior research investigator in the Perelman School of Medicine; Sarah Tishkoff, a Penn Integrates Knowledge Professor in the Perelman School of Medicine and the School of Arts & Sciences; and Scott Williams, a professor in the Case Western Reserve University School of Medicine all have a deep background in the study of human genetics. Their research has overturned the notion that race has a biological basis, yet they say race continues to be misused as a proxy for genetic ancestry and ethnicity when it comes to medical diagnosis, treatment, and outcomes—often with harmful consequences.
Penn Today spoke with the authors about their article, including their thoughts on the misuse of race in medicine and how new investigations into human diversity could improve and personalize health care.
Giorgio Sirugo is a clinician scientist and senior research investigator in the University of Pennsylvania Perelman School of Medicine.
Sarah Tishkoff is the David and Lyn Silfen University Professor in the Department of Genetics in the Perelman School of Medicine and the Department of Biology in the School of Arts & Sciences at the University of Pennsylvania and director of the Penn Center for Global Genomics & Health Equity.
Scott Williams is a professor in the Department of Population and Quantitative Health Sciences and the Department of Genetics and Genome Sciences in the Case Western Reserve University School of Medicine