Twist Bioscience, Regeneron pitch global sequencing test to bring new diversity to large DNA studies

DNA test tube
Underrepresentation of global populations in large DNA analyses limits the understanding of how diseases may work, and ultimately leads to inequalities in patient care—such as inaccurate risk scores for cancer among people of different ethnicities. (Getty Images / Andy)

The synthetic DNA weaver Twist Bioscience has teamed up with Regeneron to deliver a custom next-generation sequencing test that can track minute genetic differences among global populations. 

The goal is to help identify new disease mechanisms and novel drug targets, to boost the drugmaker’s discovery and R&D operations as well as the efforts of international genomics researchers.

In addition, the panel for single-nucleotide polymorphisms—or the individual-letter substitutions known as SNPs—aims to bring new diversity to genome-wide association studies that look to match up underlying variations in DNA with specific diseases and symptoms.

According to Twist, the vast majority of studies performed with currently available platforms are based on genetic markers from people of European descent. This incomplete information may be used to underpin a wide variety of genomic tests.

Underrepresentation of global populations in large DNA analyses limits the understanding of how diseases may work and ultimately leads to inequalities in patient care—such as missed diagnoses, or inaccurate risk scores for diseases like cancer among people of different ethnicities.

Using Twist’s next-generation panels, researchers at the Regeneron Genetics Center developed a population genotyping assay that captures globally diverse genetic variations, according to the center’s chief sequencing officer, John Overton.

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“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,” Overton said, referring to the test’s accuracy for spotting single-letter changes in the DNA code.

“We began using this panel in late 2020 in the RGC and already we are seeing positive results in our integrated research to better understand the biology of human diseases,” he added.

Now, Twist will begin broadly marketing the formerly internal assay as the Diversity SNP Panel, which includes more than 600,000 DNA probes for capturing about 1.4 million nucleotide variations.

“While SNP microarray has been the gold standard of genetic study, we have more and more customers asking for a complete genotyping solution that allows flexibility for customized disease research and we believe this is the future of disease marker testing,” said Twist CEO Emily Leproust. 

“Collaborating with Regeneron to optimize the assay with content from multiple ethnicities enables increased characterization of diverse populations to improve understanding around disease and potentially therapeutic development as well,” Leproust added.

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The assay—marking the first product in Twist’s emerging Targeted Genoytping-By-Sequencing portfolio—also allows researchers to use next-generation sequencers for both genotyping as well as exome and custom panels, rather than having to maintain separate hardware and lab space for the different processes.