While precision medicine is allowing researchers to dig ever further into individual DNA sequences to predict disease risk, it’s become increasingly clear that disease prevalence and severity can vary considerably across racial and ethnic groups due to genetic and social factors.
The picture is further complicated by the cases of so-called “admixed” individuals, or people whose DNA reflect multiple racial or ethnic ancestries. The mixing of races and ethnicities over an increasing number of generations has resulted in a relatively large number of admixed individuals in the U.S, and 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.
In an attempt to address the issue and ensure genomic medicine is accessible across the population, researchers at University of California San Diego School of Medicine have been awarded $11.7 million to launch the Genetic & Social Determinants of Health: Center for Admixture Science and Technology (CAST). The Center 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.
According to a release announcing the grant, CAST is one of the latest additions to the renowned Centers of Excellence in Genomic Science (CEGS) funded by the National Institutes of Health (NIH). Each center focuses on a unique aspect of genomics research with the intention of blazing new trails in our understanding of human biology and disease.
CAST will 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 an unprecedentedly large and diverse pool of data.
The Center says the 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.
“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,” explained said Lucila Ohno-Machado, MD, PhD, Distinguished Professor of Medicine at UC San Diego School of Medicine and one of the new center’s directors.
CAST will use advanced approaches to study admixed genomes. Their models will consider each individual’s unique 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 (SNPs), the CAST team will consider a much broader spectrum of genetic variation.
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