Improving Precision Medicine Accessibility Among Admixed Populations

University of California San Diego School of Medicine researchers have been awarded $11.7 million to launch the Genetic & Social Determinants of Health: Center for Admixture Science and Technology (CAST) to ensure precision medicine is assessable for all.

Disease prevalence can vary across different racial and ethnic groups due to genetics and social determinants of health. As medical technology continues to advance, the best way to provide quality care is with DNA or genome sequencing to predict a patient’s risk of disease.

However, researchers are concerned by the lack of representation in many racial and ethnic groups, creating health disparities. Currently, most of what researchers know about the genetics of human disease comes from datasets predominantly made up of White populations.

The lack of genomic data from diverse populations makes it difficult to predict their health outcomes accurately. However, there is even less known about the genomes of “admixed” individuals whose DNA reflects multiple ancestries. 

Historical and recent mixing of Europeans, Native Americans, Africans, and Asians has created a large population of admixed individuals in the United States. 

According to the press release, “Their genomes are a patchwork of DNA segments associated with different races and ethnicities, and may reflect ancestries outside of the individual’s self-identified race. The issue is physicians do not yet know how these DNA segments interact with each other to shape health outcomes, so these genomes are more difficult for them to interpret.”

CAST is one of the latest additions to the Centers of Excellence in Genomic Science (CEGS), funded by the National Institutes of Health (NIH). Each of the centers focuses on a different aspect of genomics research with the goal of further developing an understanding of human biology and disease.

“To bring the CEGS program to our campus is a huge honor, and a national recognition of UC San Diego as a major player in genomics,” Professor of Medicine at UC San Diego School of Medicine Lucila Ohno-Machado, MD, PhD, said in the press release.

Ohno-Machado is to lead the center along with Kelly Frazer, PhD, professor of pediatrics and director of the Institute for Genomic Medicine at UC San Diego School of Medicine, and Melissa Gymrek, PhD, assistant professor at UC San Diego School of Medicine and Jacobs School of Engineering.

Researchers need data on many patients’ genomes and health outcomes to discover relationships among them. The health of individuals from different racial and ethnic groups is also impacted by social factors, meaning this information must be included in disease models.

To meet these needs, CAST will create artificial intelligence tools to combine, protect, and analyze data from two national studies:  the All of Us Research Program and the Million Veterans Program. According to researchers, these projects aim to recruit one million participants each, presenting CAST with an unprecedentedly large and diverse data pool.

“People may not realize that a large number of people living in America are likely admixed, so we would be excluding a large portion of our community if we were not taking these mixed genomes into account,” said Ohno-Machado.

CAST will use advanced approaches to study admixed genomes. The models will consider each individual’s patchwork of ancestry rather than grouping individuals into previously established categories.

Additionally, CAST will innovate how large-scale and complex data is processed using privacy-preserving algorithms and natural language processing. These innovations will come from collaborations between informatics researchers at UC San Diego, the Broad Institute, University of Texas Health, Indiana University, and the Veterans Administration.