‘Genomic datasets must include indigenous populations’ says Cambridge data scientist

Manuel Corpas, the chief scientific officer at start-up Cambridge Precision Medicine, has called for underrepresented populations – and especially indigenous populations in South America – to be fully included in geonomic datasets.

Dr Corpas, who has enjoyed a successful teaching and podcasting career as well as his business activities, is a Fellow of the Alan Turing Institute. He says that in his work as a data scientist “it became impossible to ignore a much larger issue – one that is less about technology and more about fairness”.

He adds: “While precision medicine has made remarkable strides, most of its benefits are concentrated in populations of European descent. The rest of the world, including vast swathes of Latin America, remains largely invisible in the genomic datasets that drive medical breakthroughs.”

As well as focusing on South America and Peru in particular, Dr Corpas notes that datasets for Native Americans remain scant.

“Native American genomes are almost absent from the reference datasets that drive much of global medical research,” say Dr Corpas in a report titled ‘The Forgotten Genomes: Lessons from the Descendants of the Inca Empire’.

“Genome-wide association studies, the workhorses of modern human genetics, are based 95 per cent on European populations. Without diversity, the risk predictions and treatments derived from these studies are incomplete at best, and dangerously misleading at worst. Precision medicine promises to tailor healthcare to the individual — but it cannot fulfil that promise if it only ‘sees’ a narrow slice of humanity.

The issue isn’t merely about science, he notes – under-representation also “reduces biases, improves the accuracy of genetic models, and reveals new insights into disease mechanisms that might otherwise be missed”.

Dr Corpas, who was scientific lead at Repositive, a Cambridge start-up whose mission revolved around ethical human genome data sharing and access, adds that he doesn’t just want to do a “grab” on indigenous DNA - that would add insult to injury.

“Respect for Indigenous peoples and their traditions is non-negotiable,” he says. “I conduct my research with the utmost sensitivity, recognising the cultural, spiritual, and historical significance embedded in the genomes I study.

“I also firmly reject ‘genetic colonialism’, a practice where scientists extract data from Indigenous communities without offering any benefits in return. My work is committed to ethical partnerships, ensuring that any insights gained are shared with and beneficial to the communities themselves.

“Finally, I know that centuries of exploitation have left deep scars, and trust in science must be earned, not assumed. Transparency, collaboration, and real dialogue are the cornerstones of my approach.”

Indigenous DNA matters because it contains the essence of the survival mechanisms that allowed humanity to prosper long before Europeans arrived on the continent.

“Around 23,000 years ago,” writes Dr Corpas, “the ancestors of Native Americans separated from East Asians and began their long journey into the Americas. In South America, the formidable geography carved their descendants into three major branches: those who stayed along the Amazon basin, those who scaled the Andean mountains, and those who remained on the coast. For thousands of years, these groups lived largely isolated lives, developing unique genetic adaptations to their environments.”

This isolation ended with the arrival of the Spanish conquistadors in 1532. At the time, the Inca Empire was home to an estimated 16 million people. Within a few decades, that number plummeted to fewer than two million, largely because the uninvited guests brought with them smallpox and tuberculosis, against which the native population had no resistance. The catastrophe the Europeans visited on Native Americans lives on, perhaps - the research is incomplete - in the same way as the horrors of the concentration camps - the stress, malnutrition and cultural deprivation - has been shown to lead to epigenetic changes, impacting not just Holocaust survivors, but their descendants. These changes, though not altering the underlying DNA code, affect how genes are expressed, potentially influencing stress response and other traits.

Dr Corpas concludes: “Diversity in genomics isn’t about ticking a box; it's about building a richer, more truthful understanding of what it means to be human.”

- In 2024 the University of Cambridge led a study which showed how traditional communities in the Amazon basin could help reboot economies to be fair and sustainable.