Lack of diversity hinders genetic studies. We can change that

As a geneticist, I feel fortunate to live in the post-genomic era. The sequencing of the human genome has made it possible to make advances in understanding human genetics at an unprecedented pace. Genetic research is changing our understanding of early human migration and offering tantalizing insights into human biology. I have high hopes that we will be able to use these insights to better prevent, treat, and potentially cure diseases.

And yet, genetic research also engenders frustration. My hope for the future doesn’t currently apply equally to everyone because the vast amount of research that has given us these insights has been done mainly among people of European ancestry.

Genetic differences exist between people of different ancestries. That means genetic studies that focus on just a handful of populations give an incomplete picture. A biological insight that emerges from a study of people of European descent may not apply to someone of East Asian descent, and vice versa.

In order for everyone to benefit from sequencing the human genome, genetic studies must be conducted in people of all ethnicities — as well as all genders, ages, incomes, and sexual orientations. It’s a simple concept that seems to be fiendishly difficult to apply.

People of European descent account for less than one-quarter of the world’s population. Yet a recent study showed they make up more than three-quarters of the participants in genome-wide association studies, a common type of genetic study. Asians, who account for 60 percent of the world’s population, make up only 11 percent of participants in these studies. Africans, African Americans, and Latinos comprise less than 4 percent of participants. In fact, the majority of all genome-wide association studies done between 2005 and 2018 came from people living in just three countries — the United Kingdom, United States, and Iceland.

The lack of diversity in research is not news, particularly to the have-nots of the world, but it’s particularly ridiculous given evidence that diversifying our research can also lead to more discoveries. Joannella Morales and colleagues showed that even though only 1.3 percent of individuals in a comprehensive set of genetic studies were Hispanic or Latin American, 4.3 percent of the total genetic discoveries were made in those groups. In contrast, the 78 percent of research participants of European descent contributed 54 percent of the genetic discoveries.

I’m frustrated by this situation on two fronts. As a Chinese woman married to a Mexican man who together are raising biracial children, I am concerned about the lack of social justice here. As a scientist, I know it is sound science and a good use of scientific resources to diversify our research, yet progress in this direction is slow. Social, cultural, economic, and political barriers separate researchers and research funding from the individuals who need it most.

But there is hope. Many efforts, large and small, are being made to bring the promise of genomic research to more people. One of the core values of the All of Us Research Program, sponsored by the National Institutes of Health, is that its participants reflect the rich diversity of the U.S. I’m also encouraged by news of promising developments using gene therapy to treat sickle cell anemia, which is most common in people of African descent, and the chance that it could lead to a cure for a disease that plagues several hundred thousand people around the world, including 100,000 Americans.

The company where I work, 23andMe, received a grant from the NIH to create a DNA sequence reference panel with genetic information from our African-American customers who gave their permission to make their data available to qualified researchers through the National Human Genome Research Institute. These data will give researchers the ability to study more deeply the genetics behind conditions that affect African-American participants, which can in turn help them make more discoveries.

Beyond this effort, 23andMe now has one of the largest cohorts of genotyped and phenotyped research participants of African descent. To help get the data in front of the best scientists, our company welcomes proposals for collaboration from researchers all over the world, that we conduct at no cost. We seek proposals that will leverage this data set and that may lead to discoveries that will benefit people of African descent. These are small steps, but they can open up new areas of research and set examples for doing more.

While I’m proud to help bring more diversity to 23andMe’s database and the research industry more broadly, our health product currently has limited utility for non-European customers (which includes me and my family). I believe that one day the research community will offer to everyone the opportunity to participate in research, and that research will finally be properly inclusive.

It will take many cycles of hope and frustration to get there, but nothing that is worth doing is easy, and this is well worth doing.

Joyce Tung, Ph.D., is vice president of research at 23andMe.