Study reveals gaps in diversity and reporting across global genomics databases

A new international study, led by Associate Professor Irene Gallego Romero, Head of Human Genomics & Evolution at SVI, has revealed gaps in how human diversity is represented and reported in some of the world’s largest public genomics databases.

Published in Cell Genomics, the research analysed hundreds of thousands of RNA sequencing samples from two major international repositories used by scientists worldwide to investigate human biology and disease.

The team found that most publicly available datasets originated from research institutions in high-income countries, particularly the United States. They also discovered that information describing participants’ ancestry, ethnicity or geographic background was rarely included. Where this information was available, samples were predominantly from people of European ancestry or described as White, excluding the majority of the global population.

RNA sequencing helps researchers understand which genes are active in different cells and tissues, providing valuable insights into health and disease. Because gene activity can be influenced by both genetic and environmental factors, having diverse, well-described datasets is important for ensuring discoveries are relevant to as many people as possible.

The study highlights opportunities to improve the quality and usefulness of future genomics databases.

“Improving how we describe and represent people in public genomics databases will help researchers build a more complete understanding of human biology,” says Irene.

“If we want scientific discoveries to benefit everyone, those resources need to better reflect the diversity of the people they’re intended to serve.”