Recognizing that many genomic studies and biobanks have had a focus on white European populations until now, Twist Bioscience and the Regeneron Genetics Center have collaborated to develop a more diverse SNP panel to aid researchers developing new drugs and researching human disease.
The Diversity SNP panel will be available globally and was created using Twist’s DNA synthesis technology and includes more than 600,000 probes for around 1.4 million “globally-representative” SNPs. It can be used alone as a genotyping panel or combined with the company’s Comprehensive Exome Panel screen.
The panel was created in collaboration with the Regeneron Genetics Center, a subsidiary of Regeneron. The Center was set up in 2014 and aims to use genomic approaches to improve drug discovery. Last year it announced it had sequenced 1 million exomes.
“Leveraging Twist’s custom NGS panel design capabilities, the Regeneron Genetics Center developed a first-of-its-kind, proprietary population genotyping assay that includes DNA probes that capture globally diverse genetic sequence variations,” said John Overton, Ph.D., vice president and Regeneron Genetics Center chief sequencing officer.
“This targeted panel integrates into our existing fully automated exome processing workflow and provides base calls and imputed variants whose quality already exceeds the array-based approaches we were using. We began using this panel in late 2020 in the Regeneron Genetics Center and already we are seeing positive results in our integrated research to better understand the biology of human diseases.”
Many genome-wide association studies or GWAS have been carried out over the last 20 years and a large amount of data on genetic variants that contribute to different diseases has been collected. This information is increasingly being used to develop genetic risk scores to predict how likely it is that someone will develop diseases ranging from cancer to Alzheimer’s or even to develop targeted drugs for these diseases.
However, the data collected in these studies is largely based on studies of people with white European ancestry, which means that any risk scores developed are less accurate for people from other ethnic backgrounds such as people of Asian or African descent. It also means any drugs developed may be more effective in white populations.
Twist’s new panel is just one of several new initiatives created to make genomic medicine more representative. Many biobanks and projects in the U.S. are now actively trying to improve diversity by recruiting as many non-white participants as possible. For example, the ongoing All of Us program is planning to collect genetic data from 1 million volunteers in the US, and aims for 70-80% of these to come from groups of non-European ancestry.
There are also new initiatives being developed, such as the proposed Three Million African Genomes project and the Brazilian Initiative on Precision Medicine, among others, which will go some way to improve the data available on disease genetics in these populations.
