Researchers at UC San Diego School of Medicine announced Tuesday that they have been awarded $11.7 million to increase the DNA sequence database for people who are not of white, European descent.
To perform the work, they will launch the Genetic & Social Determinants of Health: Center for Admixture Science and Technology.
One way to make health care more personalized is to use a person’s DNA sequence — or genome — to predict their risk of disease. But as the field of precision medicine grows, so have concerns that scientists may be leaving a large fraction of Americans out.
Disease prevalence and severity can vary considerably across racial and ethnic groups due to genetic and social factors. However, most of what we know about the genetics of human disease comes from datasets of predominantly white, European people. This lack of genomic data from people of other backgrounds makes it harder to accurately predict their health outcomes. Even less is known about the genomes of “admixed” individuals whose DNA reflect multiple ancestries.
CAST will use the largest genomic datasets of individuals with diverse ancestry, in combination with socioeconomic data, to better predict health and disease in admixed individuals, officials said.
Historical and recent mixing of Europeans, Native Americans, Africans and Asians has resulted in a relatively large number of admixed individuals in the United States. 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. 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 funded by the National Institutes of Health. Each center focuses on a unique aspect of genomics research with the intention of blazing new trails in 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,” said Dr. Lucila Ohno-Machado, professor of Medicine at UCSD School of Medicine and chair of the Department of Biomedical Informatics at UCSD Health.
Ohno-Machado will lead the center with Kelly Frazer, professor of pediatrics and director of the Institute for Genomic Medicine at UCSD School of Medicine, and Melissa Gymrek, assistant professor at UCSD School of Medicine and Jacobs School of Engineering.
CAST intends to develop computational tools to combine, protect and analyze data from two national studies: All of Us Research Program and the Million Veterans Program. These projects aim to recruit one million participants each, equipping CAST with a large and diverse pool of data.
Their ultimate goal is for anyone to be able to visit their physician, have their genome sequenced, and learn not only if they are at higher risk for any particular disease, but also which prevention and treatment plans are best suited for them.
“As it stands, white people will be able to do this, but our existing knowledge may not be useful to most others,” Gymrek said. “We want to bring the genomic revolution to everyone.”
CAST will use models to consider each individual’s patchwork of ancestry, rather than grouping individuals into established categories like “white” or “Asian.”
And while most groups focus on changes in individual DNA nucleotides, known as single nucleotide polymorphisms, the CAST team will consider a much broader spectrum of genetic variation. This includes investigating tandem repeats, or short lengths of DNA that are repeated at different frequencies in each person, and a region called the major histocompatibility complex.
The MHC is one of the most diverse sections of the genome across races, in part because it is related to immune function, which is tailored to each population’s local environment.