In a time of rapidly improving drug development and medical research, it’s easy to become blinded by encouraging advances and ignore the underlying problems masked by such success. For example: Precision medicine. The promising new method of patient care involves the use of an individual’s specific genetic makeup to specifically modify diagnoses and treatment to best suit that person. Certain genetic markers are used to inform doctors on which medicine to prescribe or which disease a patient most likely has. Genetics markers can be linked to certain diseases through a genome-wide association study (GWAS), where such markers are sequenced in a large population sample that contains some individuals affected with a given condition. If a marker repeatedly appears in individuals with the disease, researchers infer that a disease gene is close in location to the genetic marker, since base pairs in the genetic code that are closer together are more likely to be inherited together (and less likely to recombine via crossing over during meiosis).
While these studies have vastly improved our knowledge of genomics and polygenic diseases, or diseases that are influenced by more than one gene, minority groups are largely underrepresented in such research, according to an analysis published in the journal Cell on March 21. According to the study, 78 percent of all people involved in genomic studies of disease (up to 2018) were white, 10 percent were of Asian descent, two percent were African, one percent were Hispanic, and less than one percent were from all other nationalities. Considering that only 16 percent of the global population is of European descent, this represents a huge disparity and inequity in research, which directly impacts healthcare through the development of therapeutics that will be less effective at treating minorities.
This inequity also extends to diagnostics. For example, genomic research that overweights the genetic makeup of Caucasians will result in diagnostic techniques that are unreliable for minorities, potentially resulting in genetic testing that misdiagnoses such people, or underrepresents their risk for developing certain diseases. Indeed, according to a 2016 study, a genetic test incorrectly informed several patients of African descent that they had a high risk of heart disease due to genetic variants identified through data from mostly white populations.
The neglect of minority representation in current research presents serious consequences. For example, people of African, Puerto Rican and Mexican descent experience high rates of asthma-related death, which has only recently been linked to genetic variants that may be making such people less receptive to albuterol, a drug used to treat asthma. If 90 percent of past lung research had not consisted of white subjects, this discovery may have been made much sooner and saved many lives.
Ethical and human rights concerns aside, it is in everyone’s best interest to include all groups in genomic research. Discoveries made from studying the genetic markers of numerous groups, who express these variants to different extents, can uncover truths that can benefit all. For example, some people of African descent carry a nonfunctional copy of the PCSK9 gene, causing their blood to have lower levels of cholesterol. This discovery has allowed scientists to create new drugs that may be able to treat heart disease in all races.
If precision medicine is to truly develop into an effective method of treating patients, it is crucial that all groups be considered in research studies so that no future patients are discriminated against on the basis of race, gender, disability or any other factor. While healthcare is sometimes regarded as a privilege, it should be treated as a basic human right that must be protected for all. This process does not begin in the doctor’s office but in the lab, where support for inclusive studies and monetary aid steers the course of our future, and whose voices will be a part of it.
Kate Lee is a contributor to The Daily Campus opinion section. She can be reached via email at Katherine.firstname.lastname@example.org.