Posted 30 January 2025

Fairer, more accurate genetic testing within reach for non-Europeans

Scientists have uncovered significant inequities in genetic testing for people of non-European ancestry and found a way to bridge this gap.

Inequities in genetic testing raises concerns for precision medicine, a healthcare approach that uses genetic, environmental, and lifestyle information to tailor treatments to individuals. The global precision medicine sector is valued at more than AUD 120 billion.

The research team analysed data from two of the world’s largest public genomic databases—gnomAD, which includes the genomes of 70,000 healthy individuals globally, and All of Us, featuring the genomes of 250,000 US citizens.

It found that people of non-European ancestry are more likely to receive inconclusive genetic test results, known as Variants of Uncertain Significance (VUS), due to most genetic research focusing on European populations.

To address this, the team used data from advanced technology called Multiplexed Assays of Variant Effects (MAVEs), which systematically evaluates all possible mutations in a gene. This helped reclassify many VUS as either harmful or harmless, significantly reducing the gap in test accuracy for non-European populations.

Most genetic research to date has focused on individuals of European ancestries said St Vincent’s Institute of Medical Research researcher and senior author on the publication, Associate Professor Irene Gallego Romero.

“This skews our understanding of disease-related genetic mutations and leaves people from other ancestries with less accurate diagnostic outcomes.

“Our study shows that people of non-European ancestries are more likely to get inconclusive results from genetic tests, not because they have more mutations in their genomes, but because most research has focused on European populations.

“Using new tools like MAVEs, we can close this gap and make genetic testing more accurate and fairer for everyone,” says Dr Gallego Romero.

Australia’s multicultural population makes the findings particularly significant. By advancing more equitable genetic testing, the research has the potential to improve healthcare outcomes for people from all ancestries living in Australia and around the world.

MAVEs were integrated into clinical guidelines to reclassify VUS as either pathogenic or benign. The results were striking:

MAVEs dramatically reduced the disparity in VUS rates between populations.
For genes like BRCA1, TP53, and PTEN, the reclassification rate for individuals of
non-European ancestries significantly improved.

The researchers are calling for global collaboration and investment in MAVEs, urging governments and healthcare organisations to prioritise diversity in genomic data.

“This technology offers a real solution,” Dr Gallego Romero said.

“The future of personalised medicine can—and must—be equitable.”


Read the study

Human Genomics & Evolution

We study the ways in which natural selection and evolution have shaped humans, in order to understand how our species' past defines our present.

Lab head: Associate Professor Irene Gallego Romero

View lab profile