Racial Disparities in Genomics Research, A Timely Reminder to Diversify
By Keerthi Krishnan Thirtamara Rajamani
Only 2.5% of participants in all of genomics research are African American or Latin American/Hispanic people by ancestry [1]. This reduces to a staggering 0.7% when categorized by neurological disorders, despite the fact that conditions such as Alzheimer’s disease are predicted to affect racial minorities at a much higher rate [2].
A lack of racial diversity in this kind of research severely undermines the utility and effectiveness of genomics research and has broader implications that contribute directly to existing racial disparities in healthcare. There are ways to make research more equitable.
Increasing participation of racial minorities by destigmatizing existing biases around genomic research is one option [3]. Another is to encourage researchers to include racial diverse populations in their studies by offering financial incentives through federal funding programs.
Using a tool called genome wide association study scientists use an individual’s genetic information, and determine how subtle differences in the arrangement of the “letters” that make up our DNA is associated with susceptibility to disease. This requires the use of large genetic databases — typically involving hundreds of thousands of individuals.
Herein lies the problem. The existing databases of a large sample sizes are not representative of the larger population [4]. Researchers often default to using these databases largely to avoid having to explain how different ancestry groups might confound their research findings. Although a genuine concern, this inadvertently compounds the challenge of expanding diversity in genomic research — forcing well-intentioned scientists to avoid including individuals with diverse background in their research studies.
The implications are far reaching because findings in a certain ancestry group don’t necessarily translate to other groups [5]. To illustrate, a gene that was identified as an important risk factor for Alzheimer’s disease in Caucasians, has been found to have a much lower risk in African-Americans. Similarly, it is estimated that genetic differences among different ancestral groups, particularly those of African-American descent, are closely linked to the effectiveness of warfarin, a commonly prescribed anticoagulant [6].
It is not surprising that racial minorities are also less likely to participate in genomics research. Historical injustices perpetrated in the name of scientific research, such as the Tuskegee syphilis study, have left a track record of perceived suspicion [7]. Allaying these concerns and emphasizing the benefits of research would go a long way toward increasing participation and building trust among racially underrepresented groups.
Finally, incentivizing researchers by encouraging the use of genetically diverse populations databases would greatly help. Increased spending on creating such databases and developing newer statistical methods would amplify such outcomes. The establishment of federally funded programs such as the Population Architecture using genetic and epidemiology (PAGE) consortium (NIH) and the All of Us initiative by the by the National Institutes for Health (NIH) that aims to identify how genetic risk factors influence human health by studying diverse populations groups is already generating some very useful findings [8-10].
It is estimated that by the year 2045, the population of racial minorities is going to outnumber non-Hispanic whites [11]. Failure to include racial minorities in genomics research is not only going to widen the existing gaps in healthcare in the future but also continue to fuel and exacerbate racial and ethnic tensions. Scientists can be a part of a better outcome for society by addressing these issue in genomic research now.
Keerthi Krishnan Thirtamara Rajamani, PhD is a postdoctoral fellow in the Department of Psychiatry at the Icahn School of Medicine at Mount Sinai.
References
- GWAS Diversity Monitor
- Racial and ethnic estimates of Alzheimer’s disease and related dementias in the United States (2015–2060) in adults aged ≥65 years
- Why ethnic minority groups are under‐represented in clinical trials: a review of the literature
- Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice
- Generalization and Dilution of Association Results from European GWAS in Populations of Non-European Ancestry: The PAGE Study
- Poor Warfarin Dose Prediction with Pharmacogenetic Algorithms that Exclude Genotypes Important for African Americans
- U.S. Public Health Service Syphilis Study at Tuskegee
- Population Architecture Using Genomics and Epidemiology (PAGE) Consortium
- All of Us Research Program
- Genetic analyses of diverse populations improves discovery for complex traits
- Older People Projected to Outnumber Children for First Time in U.S. History
