More diverse genomic datasets could improve equity in rare conditions diagnoses
Making genomic datasets more ancestrally diverse could make rare conditions diagnoses fairer and more accurate for everyone, according to new research.
The study, led by Genomics England and published in eBioMedicine, analysed the data of over 29,000 people with a rare condition from the 100,000 Genomes Project to find out whether a person's ancestry affects which genetic changes are prioritised for investigation as part of diagnostic work and whether this influences the chances of them receiving a genetic diagnosis.
The researchers found that patients from different genetic ancestry groups can experience significant differences. Compared with people of European ancestry, people of East African ancestry had almost three times as many genetic changes flagged for scientists to review. Other non-European ancestry groups also had higher numbers of flagged changes. But despite this, the likelihood of receiving a genetic diagnosis was similar across all ancestry groups once other factors were considered.
One reason why some groups such as those of African ancestry have fewer of their flagged genetic changes confirmed as disease-causing is because of a lack of diversity in genetic databases. With less detail from these groups available, important genetic differences between them can be hidden, making it more difficult to separate truly harmful gene changes from the harmless ones.
The result of more genetic changes incorrectly flagged as potentially important is that it can make diagnosis slower and more expensive. Clinical scientists must spend more time investigating genetic changes that turn out to be inconsequential in a disease-causing context, and patients face delays and prolonged uncertainty about their diagnosis as well as any possible treatment and care.
“This research highlights an important challenge in genomic medicine and why we need to increase representation in genomic datasets globally for more efficient and precise results.
“Genome sequencing is likely to continue becoming more widely used in routine healthcare in the UK and worldwide, including for those with rare conditions. It’s critical that as this happens and genomic medicine advances, its benefits are shared equally among patients irrespective of their background.”
Sam Tallman
Genomics Data Scientist at Genomics England and one of the paper’s authors
In 2025, Genomics England completed its Diverse Data initiative, which was set up to improve equity in health research and aid improved patient outcomes in genomic medicine for minoritised communities. It will contribute to making the National Genomic Research Library, run by Genomics England, a more diverse resource for health research globally.
