Genetic study highlights importance of diversity in understanding health disparities

The majority of genetic studies focus on people of European descent, which limits the understanding of how genes influence health in other populations. Researchers at the Perelman School of Medicine and the Corporal Michael J. Crescenz VA Medical Center have partnered with a team of researchers at the Department of Veterans Affairs and the Department of Energy Oak Ridge and Argonne National Laboratories to conduct large-scale studies with diverse groups to better understand the genetic factors that influence health and disease.

A new study published in Scienceanalyzes genetic data from 635,969 veterans and 2,069 traits and identifies a total of 26,049 associations between specific genetic variants and various traits or health conditions.

The study, one of the largest of its kind, utilized data from MVP, a longitudinal study of U.S. Veterans, with over 29% of the participants being of non-European ancestry. Researchers identified 13,672 specific regions in DNA that are associated with one or more traits, such as physical characteristics or health conditions. These regions, known as genetic risk areas, can influence the likelihood of a person having certain traits or developing certain diseases.

"Understanding the genetic factors underlying health disparities is crucial for developing targeted interventions and treatments that can benefit all people, regardless of their background," says the study's corresponding author, Scott Damrauer, an associate professor of genetics at Penn and vascular surgeon at the Crescenz VA. "By uncovering these genetic insights across diverse populations, we are taking significant steps towards a more personalized and inclusive approach to healthcare."

The study shows that the genetics of most traits are similar between groups of diverse people, but, certain groups do have their own distinct genetic features. They were able to find these differences more accurately, especially in African American and mixed ancestry groups, thanks to improvements in how they analyze DNA, like fine mapping, which allows researchers to identify the exact genetic changes responsible for a particular trait or condition.

"Our work demonstrates overwhelmingly more similarities than differences in genetic associations between groups," says first author Anurag Verma, an assistant professor of translational medicine and human genetics and a VA MVP researcher. "However, the unique genetic variations identified in diverse populations provide critical insights into health disparities and have significant implications for precision medicine."

This story is by Matt Toal. Read more at Penn Medicine News.