Advances in technology and research mean we live in an age with precision medicine at the forefront of healthcare, yet paradoxically the use of race as a biological variable in medical practice and biomedical research has yet to become obsolete. In today’s Chair’s Invited Session on “Race, Genomics and Medicine,” conference attendees will be able to dive deep into the history of race-based medicine and how the genomics era is about to change a long history of misconceptions.
The use of race in medicine and research is a controversial topic. Race has been used historically not only to construct a social hierarchy but also in science and medicine to categorize patients into “like” groups, albeit for different intentions. The intended utility was to aid the physician in arriving at an accurate diagnosis based on the presumption that grouping people by race is a reasonable estimate of common genetic makeup. To this day, medical practice uses race on a day-to-day basis, from calculating estimated glomerular filtration rate and assessing the risk of cardiovascular disease to predicting the pharmacology of drugs.
However, in the post-genomic era, using race as a biological category looks archaic, not to mention scientifically inaccurate, as race is not something that can be measured objectively. In the session, Issac Kahone, MD, PhD, will explain how many of the genetic variants that today guide care decisions have a geographic origin. Researchers have demonstrated that genetic variants also are affected by lifestyle and current—not past—geography.
The idea of race itself can be problematic, according to Eric Green, MD, PhD. He will discuss how race is a fluid social construct that has changed over time.
A more accurate model uses each individual’s clinical presentation, genomic makeup, and social and environmental context to personalize their care in a more precise fashion, Green will explain. He will also show how to provide optimal treatment and understand the risk of disease. It is better to determine the genomic variants rather than make inferences from an individual’s race.
While relying on race to make medical decisions can result in patient harm, it is equally important to pay attention to the resultant healthcare inequities. For instance, it has become apparent in the opioid crisis that clinicians are less likely to prescribe pain medications to black patients than to white patients.
Jay Kaufman, PhD, will explore how pharmaceutical companies have used race as a proxy to genetic variation to market race-specific drugs. For example, “BiDil”, a drug treatment used to treat congestive heart failure (CHF), has been marketed specifically for black people. Kaufman will emphasize that no published trial ever demonstrated effectiveness for specific racial groups, yet the Food and Drug Administration approved this drug in 2005 for treatment of black people with CHF, setting a precedent for perpetuating race-based medicine.
So what can we expect from the scientific community in challenging the flawed concept of race as a proxy to genetic variability? Attendees will hear Green and other speakers describe how genomics researchers have recognized the gaps in knowledge and historical biases about many ancestral populations, and how large efforts are being made in gathering primary data around the frequency of variants in diverse populations.
Currently, repositories overwhelmingly represent people of European ancestry, and organizations such as the National Institutes of Health and the Welcome Trust are building research capacity in Africa with African scientists. Similarly, the National Institutes of Health and National Human Genome Research Institute are supporting programs that encourage research, training, and public engagement in genomic research in all patient populations.