Dr. Manuel Corpas, chief scientific officer at Cambridge Precision Medicine and a Fellow of the Alan Turing Institute, is urging a fundamental shift in how genomic datasets are compiled and utilized. He argues that the current over-reliance on populations of European descent is not only scientifically limiting but also ethically problematic.
“While precision medicine has made remarkable strides, most of its benefits are concentrated in populations of European descent,” Dr. Corpas explains.
The rest of the world, including vast swathes of Latin America, remains largely invisible in the genomic datasets that drive medical breakthroughs.
His report, ‘The Forgotten Genomes: Lessons from the Descendants of the Inca Empire,’ highlights the stark disparity, noting that genome-wide association studies—the foundation of modern human genetics—are based on approximately 95% European populations. This lack of diversity leads to incomplete and potentially misleading risk predictions and treatments, hindering the promise of truly personalised healthcare.
Dr. Corpas stresses that addressing this issue isn’t merely about improving scientific accuracy. It’s also about reducing biases, enhancing the precision of genetic models, and unlocking new insights into disease mechanisms that might otherwise remain hidden. He points to the near absence of Native American genomes in reference datasets as a critical failing.
However, Dr. Corpas is adamant that inclusion must be conducted ethically and respectfully. He firmly rejects “genetic colonialism,” emphasising the importance of collaborative partnerships that directly benefit Indigenous communities. “Respect for Indigenous peoples and their traditions is non-negotiable,” he states. He advocates for transparency and genuine dialogue, acknowledging a history of exploitation that warrants building trust through ethical and mutually beneficial research.
The unique genetic adaptations developed by Indigenous populations over millennia hold valuable clues to human survival and resilience. Dr. Corpas highlights how the ancestors of Native Americans, isolated for thousands of years across diverse environments, developed unique genetic traits. The devastating impact of European colonisation, bringing diseases to which Indigenous populations had no resistance, further underscores the need to understand their genetic history. This historical trauma, reminiscent of epigenetic changes observed in Holocaust survivors, may have lasting effects transmitted across generations.
Ultimately, Dr. Corpas believes that greater diversity in genomics is essential for a more complete and truthful understanding of humanity. With the University of Cambridge recently showcasing how traditional communities in the Amazon could help economies be fair and sustainable, it would seem the time for action is now.
