We may be reaching a point where genetic ancestry data has become a useful tool for predicting disease. While ethnicity is still a way for clinicians to anticipate an individual's risk of developing certain diseases, researchers know more about genetic patterns that underpin some complex diseases, and these patterns don't always track with a person's ethnicity. Genome sequencing data is becoming far more useful than broad labels like White, Black, or Hispanic, suggested scientists in a new report in Cell. It may be easier to use ancestry data to identify who is most susceptible to disorders like asthma, diabetes, cancers, and cardiovascular disease, and might also provide insight into what early interventions may prevent the disorders.
"This is the first time researchers have shown how genetic ancestry data could be used to enhance our understanding of disease risk and management at a health system level," said senior study author Eimear Kenny, Ph.D., Professor of Medicine, and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. "By linking this data directly to health outcomes, we believe we're contributing to an ongoing conversation to move beyond the current role of race and ethnicity in medicine."
These researchers had the benefit of access to the BioMe™ BioBank program at Mount Sinai, which contains data from a diverse group of individuals. Computational tools were used to sort information from about 30,000 participants into 17 distinct communities, which were then connected to data from Mount Sinai's electronic health records. About one-quarter of the participants had some links to populations that are predisposed to certain genetic diseases.
"The traditional use of demographic data by health systems fails to capture the rich ethnic heritage of patients, and thus all the genetic and environmental factors that can affect rates of disease even within the same population," said Kenny, who is Founding Director of the Institute for Genomic Health at Mount Sinai.
"Our study used genomic data embedded in health system records to show how patients with origins from different countries in the Americas can have different rates of disease. For example, people of Puerto Rican and Mexican descent are broadly classified as Hispanic or Latinx, yet the former population has one of the highest rates of asthma in the world, while the latter population has one of the lowest."
The study used the APOL1 gene, certain variants of which are known to have a significant effect on a person's risk of developing kidney and cardiovascular disease, as an example. The most common APOL1 risk variants are found in people with African genetic ancestry. But there are many people around the world that have some African ancestry, not all of whom identify as African. Thus, they may not be aware they carry variants that are predisposing them to disease. Research studies are probably not including these people, either.
"Our study underscores that there are limits to the narrow demographic labels used in medicine and research today - and society in general, for that matter - to attempt to characterize disease and its risk factors," said. Kenny. "The types of information that can be derived from using biological markers of ancestry, however, convey a much richer and more sophisticated layer of understanding of disease risk and burden, one that could have enormous implications for health care systems globally."