The benefits of including diverse populations in genomic research is of utmost importance, and a paper recently published in npj (Nature Partner Journal) Genomic Medicine examined both the progress and challenges in increasing the amount of data on individuals with African ancestry in such research.
The paper’s authors, including Shawneequa Callier, JD, MA, associate professor of clinical research and leadership at the George Washington University School of Medicine and Health Sciences, sought to investigate the progress in overcoming the challenges of increasing diverse genomic data among those conducting research.
In the paper, the authors carefully define the use of the term “ancestry,” discussing its limits when describing sub-Saharan Africans and those who identify as African American or Afro-Caribbean. They then go on to describe advancements that can better help us to understand global human genomic variation across populations with diverse ancestry.
New initiatives focusing on increasing the representation of diverse populations in research, such as TopMED and PAGE II, are beginning to bear fruit, the researchers found. They write that, because of the inclusion of individuals with African ancestry in certain studies, researchers have identified novel loci, which are the fixed positions on a chromosome where a gene or genetic marker is located, in research on obesity, Type 2 diabetes, and multiple sclerosis, among other conditions.
Genomic research plays a large role in creating improvements in patient care, the authors added. However, there continues to be disparities in clinical care for diverse patients because of the overrepresentation of people with European ancestry in polygenic risk scores, which are calculated for an individual based on the presence or absence of risk variants identified in genome-wide association studies of common diseases.
Another area where diversity is lacking, the researchers find, is among genomic researchers themselves, which leads to the loss of perspectives that are important in developing hypotheses as well as directing research among diverse individuals.
The authors conclude that it will require “sustained and continuing efforts” to achieve meaningful representation of diverse populations across genomic research.
The paper, “Evaluating the promise of inclusion of African ancestry populations in genomics,” is published in npj Genomic Medicine.
