A recent study involving scientists from the U.S. Department of Energy’s (DOE) Argonne National Laboratory has uncovered insights into the prostate cancer risks of people from a variety of genetic ancestries. The project, which was led by the University of Southern California, included large increases in representation among men of African, Hispanic and Asian ancestries, that were contributed in part by an ongoing collaboration between the U.S. Department of Veterans Affairs (VA) and DOE.
The truly unique factor of this research was the data provided by the MVP. The MVP is one of the largest and most diverse collections of genetic information in the world, with one million veterans joining since the program’s launch in 2011. The study of this genetic data was performed using the latest techniques in high performance computing (HPC) and artificial intelligence (AI), and this unprecedented biobank enabled researchers to reach further than any that came before it.
Studying populations
Prostate cancer is the most frequently diagnosed non-skin cancer globally, and as such, it is a problem that affects the entire human population. To understand the likelihood of an individual or population developing prostate cancer, researchers create what is known as a Genetic Risk Score (GRS). This is an estimate of the cumulative contribution of genetic factors to a specific health outcome.
Specifically, the research group focused on single nucleotide polymorphisms (SNPs.) These are variations at a single position in a DNA sequence that act as biological markers that help scientists locate genes that are associated with disease.
For this study of 156,319 prostate cancer cases and 788,443 control cases, the GRS is calibrated by adding up all the risks contributed by individual SNPs. Here, the researchers found 187 new genetic markers that provide more accuracy in calculating the risk posed by a particular ancestry. This increased the total number of known risk variants to 451.
Different ancestries, different risks
This work was centered around a desire to understand the genetic makeup that increases risks for diseases like prostate cancer. Of course, genetic architecture is heavily based on a person’s ancestry, and previous studies did not include people who do not share a European ancestry.
This is especially true of people with African ancestry. In this study, the case sample size was increased by 43% for people of European ancestry over previous studies, 26% for those with Asian ancestry, 45% for Hispanic groups and a whopping 87% for those with African ancestry.
The increase of representation is obviously important for groups that are often marginalized and forgotten, but it also helps people outside of these groups.
Science involving such a large database like MVP can sometimes feel impersonal, as the individual can often be lost in such a large group. But the contributions of every person involved is of the utmost importance — not only for what they contribute to science with their data, but also in terms of what they’ve provided for their country.
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