Yet Another Study Shows the Dire Need for More Diversity in Medical Research

A recent study published in Cell has exhibited the scientific community’s negligence for conducting research that includes an adequate representation of non-Europeans. Specifically, it showed that 78% of patients in genomic studies were of European descent. The remaining percentages were 10% Asian, 2% African, 1% Hispanic, and >1% other groups. This analysis came from data gathered up until the end of 2018.

Why It’s an Issue

“…lack of diversity in genomic studies harms our scientific understanding of the genetic underpinnings of disease in all populations and exacerbates health care inequities.”

In addition to harming entire populations of patients by not dedicating enough research to their ailments, a lack of diversity in research can impede scientific research as a whole. It limits researcher’s understanding of entire disease states because it only examines one indication of its presentation. This may cause scientists to come to a false conclusion about a conditions manifestation, and could even result in the prescription of ineffective or harmful therapies.

On the other hand, research that includes diverse populations can accelerate the path to discovery.

For instance, by studying mutations of PCSK9 in West African patient populations, researchers gained insight into the underlying biology of the regulation of cholesterol in the body. Ultimately, through this analysis they were able to bring a new class of drugs to patients of all backgrounds.

Diseases like Huntington’s disease and muscular dystrophy are caused by one singular gene variant in all populations. But, conditions like hypertension and chronic kidney disease can be linked to a multitude of different genes. This type of disease is called polygenic and as a whole they are much more common than diseases caused by a single gene. Unfortunately, they are also much more difficult to study. Things are especially complicated when polygenic diseases present differently across ethnic groups (a common occurrence). When researchers don’t utilize a diverse population in their investigations, there is no way for them to make a comprehensive conclusion.

New Deduction

Researchers in this recent study narrow the importance of diversity down to two factors. Specifically, they argue that making inferences about the entire global population based primarily on data from one subset is faulty because both genes themselves and genetic markers can vary across different populations.

They also explain that the genetic research of diseases is just one facet of health disparities. Unequal access to care, structural and systemic racism, and environmental effects of various diseases also cause inequalities in the field. They conclude that change is needed from both the bottom-up and the top-down in order to make sustainable, lasting changes to current norms.


The primary solution these researchers discuss is that funding agencies need to support research which examines diverse populations. Unfortunately, much of research is determined by financial capacity, and if funding agencies want diverse research, that is the type of research that will be conducted.

They also discuss the fact that researchers need to engage with the diverse patients affected by their research agenda in order to ensure the research conducted is ethical and that the patients themselves are valued.

There’s been a big movement lately for “precision medicine”, or the idea that we need to evaluate each patient as an individual in order to find the best treatment option for them. However, even this initiative seems to avoid the subject of diversity, and it’s doing everyone involved a disservice, especially people of color. We need to apply this initiative to all populations in order to best benefit all patients across the world.

We’re making small steps forward, as evident through new initiatives like the NIH’s All of Us campaign which collects genomic data from a multitude of diverse populations. But, we’re not even close to being where we need to be.

You can read more about this recent study and its findings here.

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