3billion, an AI-powered genetic diagnostics company for rare diseases, has introduced the NovaSeq X, Illumina's next-generation sequencer.

The NovaSeq X, succeeding the NovaSeq 6000, provides a substantial enhancement, offering up to 2.5 times the DNA sequencing capacity per run when compared to its forerunner. It can generate whole genome (WGS) data from as many as 128 patients or whole exome (WES) data from 1,500 patients in a single run, 3billion said.

The global diagnostic testing market for rare diseases is undergoing a significant transformation, shifting from a focus on gene panel testing for select genes to whole exome sequencing (WES) and whole genome sequencing (WGS) for the entire human genome. The global market for diagnostic tests based on WES and WGS for rare diseases is growing 40 percent annually. The number of WGS orders that 3billion received in the first nine months of this year spiked 13 folds compared to that in the same period of last year. 

Whole exomes and whole genomes yield more than 100,000 and 5 million genetic variants per patient, respectively. The interpretation of these variants through AI-based methods is critical in determining a patient's diagnosis. Leveraging its advanced genomic variant interpretation technology, 3billion rapidly and precisely analyzes extensive genomic patient data to deliver prompt diagnostic test results to healthcare providers.

With the introduction of Novaseq X, 3billion will be able to produce genomic data from more patients with rare diseases faster, further enhancing its competitiveness in global rare disease diagnostic testing services, it said.

"We remain committed to advancing our rare disease diagnostic technology through the integration of the latest genome decipherer and our AI genome interpretation technology, with the goal of establishing ourselves as a global leader in the field of rare disease diagnostics," said Geum Chang-won, CEO of 3billion.