Data from the U.S. National Library of Medicine suggests that 85% of genomics studies have been conducted in individuals of European descent.
Singapore-based project GenomeAsia 100K is working to address this representation disparity.
Almost a decade ago, it set the goal to sequence 100,000 Asian human genomes and create a genetic representation of Asian human variation.
“The project has two parts. Step one is to understand the genetic makeup of Asians as a whole entity, but then the second one is to find out which of those genetic markers that we newly discover are actually ethical markers and are not disease markers, as they have been described in the genomes of European descendants,” GenomeAsia 100K’s scientific director Stephan Schuster said in an interview with CNBC’s The Edge.
The project started off with a collection of pre-existing samples, and it has expanded its sample pool thanks to contributions from national collections, donors, clinicians and scientists.
To read the genomes, scientists extract the DNA from the samples and place it in a sequencer. The machine creates a high amount of data, which informs various demographic trends and allows for personalized medicine.
“The big advance is that we have entered the area of personalized medicine. The idea is, you would sequence the genome of a patient, and you will be able to tailor make a treatment, medication for that person. We try to build on that concept, and our key paradigm is, how can precision medicine be precise if you don’t precisely know who you are?” Schuster said.
“What we are trying to say is the pharmaceutical industry needs to make sure that the drugs that they develop are compatible. And the factor of ethnicity is currently not represented in precision medicine,” he added.
By expanding genomic data, underrepresented populations can benefit from improved clinical care, early detection of diseases and better diagnosis and drug design.
However, the genome diversification process is slow. Despite recent advancements, the GenomeAsia 100K project is far from reaching its initial goal and has, so far, sequenced 10,000 human genomes.
Watch the video above to learn more about GenomeAsia 100K and the importance of diversity in genomic research.