New study shows the importance of ethnicity in genomic variants associated with disease

By Samantha Black, PhD, The Science Advisory Board editor in chief

June 19, 2019 -- 27 new genomic variants associated with conditions such as blood pressure, type 2 diabetes, cigarette use and chronic kidney disease in diverse populations have been identified by the National Institutes of Health. Data from nearly 50,000 participants from various ethnic backgrounds were tested to determine how genomic variants influence risk to certain diseases.

The research was published in Nature Letters on June 19th, 2019 and was funded by the National Human Genome Research Institute (NHGRI) and the National Institute on Minority Health and Health Disparities.

“There are scientific benefits to including people from different ethnic groups in research studies. This paper gives us a glimpse of how ethnic diversity can be harnessed to better understand disease biology and clinical implications,” said Lucia Hindorff, Ph.D., program director in the Division of Genomic Medicine at NHGRI and a co-author of the paper. “This paper represents an important comprehensive effort to incorporate diversity into large-scale studies, from study design to data analysis.”

Their findings show that the frequency of genomic variants associated with certain diseases can differ from one group to another. For example, a strong association was found between a new genomic variant and smokers and their daily cigarette usage in Native Hawaiian participants. However, this association was absent or rare in most other populations.

This type of research is necessary because a vast majority of human genomics research use data based mostly on populations of white European ancestry. Genomic variants due to ethnicity may partly explain differences in vulnerability to certain diseases and how individuals respond to associated treatments. Identifying these differences is a primary goal of the Population Architecture using Genomics and Epidemiology (PAGE) Consortium. Improved understanding will be used to optimize treatments and maximize benefits across many populations.

Many other efforts are currently being executed to increase the ethnic diversity of individuals participating in genome-wide association studies (GWAS). For example, researchers analyzed efforts to diversify the persistent bias (participants who are not of European descent) over a seven year period increased from only 4% in 2009 to 19% in 2016. However, the majority of non-European samples, were from Asian descent and other groups were still highly underrepresented. This research provides evidence of why it is important to have diversity in GWAS and contributed to the establishment of research such as the PAGE study.

Another NIH-funded project, ClinGen is working to establish standard approaches for sharing genomic and phenotypic data to improve understanding of variation in diverse populations and use the collective knowledge in the community.

This PAGE study addresses the need for new methods and tools for collecting and disseminating large and varied amounts of genomic data, in order to make the results clinically useful.

Ultimately, these efforts to fully understand diverse genomic variations will allow researchers and medical professionals to piece together the full potential of the human genome.


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