Researchers from New York’s Cold Spring Harbor Laboratory (CSHL) have developed new software that accurately infers continental ancestry from tumor DNA and RNA. The tool could one day help clinicians develop new strategies for early cancer detection and personalized treatments.

“Why do people of different races and ethnicities get sick at different rates with different types of cancer?” asks CSHL Research Professor Alexander Krasnitz. “They have different habits, living conditions, exposures—all kinds of social and environmental factors. But there may be a genetic component as well.”

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Krasnitz’s team trained software using DNA profiles created from cancerous and unrelated cancer-free genomes of a known background. They then tested the software’s performance against pancreatic, ovarian, breast, and blood cancer specimens from patients with known ancestry, and found it matched the profiles to continental populations with over 95% accuracy.

“We have a good model to build on,” Krasnitz says. “But very few individuals come from a single ancestry. We’re all mixed to some extent. So now we’re working to look deeper, test tumor samples of unknown ancestry, reveal ancestral mixtures, and achieve more regional specificity.” Currently, the software’s specificity can, for example, distinguish genealogy between West Africa and East Africa.

The findings also suggest that knowing ancestral history could help optimize cancer treatments. Krasnitz and CSHL Postdoctoral Fellow Pascal Belleau recently joined a colorectal cancer study in collaboration with Northwell Health and SUNY Downstate Medical Center. The study allows them to explore how colorectal cancer mutates genes in different ways depending on specific races or ethnicities. They hope to further refine their software to infer ancestry of not only whole genomes but every individual sequence therein.

“If we can identify more localized ancestries that are susceptible to different cancers or other aggressive diseases, it could help us pinpoint the specific part of the genome responsible and target it for treatment,” Belleau says.

The findings were published recently in the journal Cancer Research.