Precision medicine (PM) is a promising approach to healthcare that can lead to increased health benefits for patients and reduced adverse effects and costs associated with care. The intent of PM is to tailor preventative and therapeutic options that take individual genetic, environmental, and lifestyles into consideration, which, in theory, could lead to a decrease in health inequities and disparities. PM research with sufficiently powered inclusion of ethnic/racial/disability populations is crucial to accomplishing these objectives and for detecting genomic variants that affect drug response within and across populations.
The U.S. Census Bureau data shows that in 2020, 53% of the nation’s children identified as part of a minority race or ethnic group. Sadly, there is a much lower percentage of diverse populations included medical studies compared to European backgrounds, despite this growth in diversity in the U.S. Heightened understanding of disease threats and models across different groups is vital to alleviate effects of disease, and without this information, PM advantages will be disproportionately achieved.
The progress of PM in enhancing accuracy of identifying aspects and potential of disease risk as well as improving care, safety, and efficacy of drugs has been relatively slow within marginalized, vulnerable, underserved, and under-resourced populations. According to Brad Ozenberger, Ph.D., Genomics Program Director for The National Institutes of Health’s (NIH) All of Us Research Program, “too many groups have been left out of research in the past, so much of what we know about genomics is based mainly on people of European ancestry. And often, genomic data are explored without critical context like environment, economics and other social determinants of health.”
To increase diverse participation in medical research and improve PM, the healthcare industry must be honest about the past and the medical mistreatment that has been inflicted upon vulnerable populations throughout history, as well as increase diverse representation in its workforce to engender trust with diverse populations. Our country has a 400-year history of using Black and Brown people for medical research and experiments without permission and proper treatment. We are quick to point to the Tuskegee Experiment but, we often fail to talk about the exploitations since colonization and the lack of medical ethics that should have protected us.
For example, Dr. James Marion Sims began conducting experiments on enslaved Black women in 1845. For one woman, Dr. Sims performed 30 painful surgeries, refusing to anesthetize – opposite of the care Sims provided to his white women patients. He caused untold suffering by operating under the racist notion that black people, especially black women, did not feel pain. The narrative of medical research has been written by the medical researchers that committed these acts. So, dehumanizing and physical pain was downplayed, misrepresented, or simply left out of recorded canons. These recordings did not include the suffering, disfiguring, cruelty, and stolen virtues that we have endured for centuries. And, current day, our fears, deliberation, and questioning are dismissed, miscategorized, or sugar-coated in one smooth stroke of a brush to make it more palatable as being ‘hesitant’ to participate in studies. We can increase participation in studies for PM by ensuring that medical ethics will not allow us to turn back.
Dr. Sirugo, Dr. Tishkoff, and Dr. Williams, authors of “The Missing Diversity in Human Genetic Studies,” agreed that “…as the push toward precision medicine intensifies, this worrisome deficit in genetic research will grow, leaving much of the global population behind. Unless we act now, the promise of precision medicine will be available to, and benefit, only a select few.” These are not competing goals. These are compatible goals. We can do both at the same time. We can engender trust by unmasking the past and increasing diverse representation in the workforce so that it is more reflective of the patient population we serve. And, in doing both, we can improve diverse participation in PM studies where we can maximize the benefits of the four P’s of precision medicine (predictive, preventive, personalized, participative), have a healthier population, eliminate some of the health disparities, and reduce healthcare costs.
Sources:
“All of Us” Precision Medicine Program Returns First Genetic Results, by Jessica Kent, HealthITAnalytics, December 11, 2020
Medicine still mending from Jim Crow era by Gary Pettus, The University of Mississippi Medical Center, October 3, 2019
Projections of the size and composition of the US population: 2014 to 2060 by Colby S.L. and Ortman J.M., U.S. Census Bureau
Race and Genetic Ancestry in Medicine — A Time for Reckoning with Racism, by Luisa N. Borrell, D.D.S., Ph.D., Jennifer R. Elhawary, M.S., Elena Fuentes‑Afflick, M.D., M.P.H., et.al., The New England Journal of Medicine, February 4, 2021