In a groundbreaking development for the field of rare disease diagnostics, 3billion, the forefront player in AI-powered genetic diagnostics, has seamlessly integrated Illumina’s NovaSeq X into its technological arsenal. The NovaSeq X, succeeding the NovaSeq 6000, promises a remarkable leap in DNA sequencing capacity. This enhancement positions 3billion at the forefront of the dynamic and rapidly evolving landscape of global rare disease diagnostic testing.
Advancing diagnostics with NovaSeq X
In the realm of genetic diagnostics, capacity and speed are paramount. The introduction of Illumina’s NovaSeq X by 3billion signifies a transformative leap in the company’s ability to meet the escalating demand for rare disease diagnostics. The NovaSeq X, outshining its predecessor, the NovaSeq 6000, brings to the table a staggering 2.5 times increase in DNA sequencing capacity per run. This translates to an unprecedented ability to generate whole genome (WGS) data from up to 128 patients or whole exome (WES) data from a staggering 1,500 patients in a single run, as affirmed by 3billion.
The global landscape of diagnostic testing for rare diseases is undergoing a paradigm shift, transitioning from conventional gene panel testing to more comprehensive approaches like WES and WGS. Riding this wave, 3billion strategically positions itself at the nexus of innovation, catering to the burgeoning demand for high-throughput and comprehensive genomic analysis.
The diagnostic testing market for rare diseases, especially focusing on WES and WGS, is experiencing an annual growth rate of 40 percent. Notably, 3billion has witnessed a remarkable surge, with the number of WGS orders escalating by 13-fold in the first nine months of this year compared to the same period last year. This surge emphasizes the global acknowledgment of the efficacy and relevance of 3billion’s advanced genomic diagnostics services.
The significance of whole exomes and whole genomes lies in the rich troves of genetic variants they yield—more than 100,000 and 5 million per patient, respectively. Yet, the real challenge lies in unraveling the meaning behind these variants to arrive at accurate diagnoses promptly. 3billion tackles this challenge head-on by integrating cutting-edge AI-based methods for genomic variant interpretation. The synergy of NovaSeq X’s enhanced sequencing capabilities and 3billion’s AI prowess ensures rapid and precise analysis of extensive genomic patient data, promising swift diagnostic outcomes for healthcare providers.
3billion’s visionary leap in AI-powered genetic diagnostics
The deployment of NovaSeq X is not merely a technological upgrade for 3billion; it signifies a strategic commitment to advancing rare disease diagnostic technology.
Geum Chang-won, CEO of 3billion, emphasized the company’s dedication to advancing diagnostic technology for less common diseases. He highlighted their commitment to integrating cutting-edge genome deciphering and AI genome interpretation technologies, with the overarching objective of positioning 3billion as a global leader in the realm of diagnostic solutions for less common diseases.
This commitment aligns seamlessly with the company’s broader vision of becoming a global leader in rare disease diagnostics. The enhanced capabilities of NovaSeq X empower 3billion to produce genomic data from a more extensive pool of patients with rare diseases at an accelerated pace. This not only reinforces the company’s position in the competitive landscape but also ensures that healthcare providers globally can access timely and accurate diagnostic insights for their patients.
The convergence of Illumina’s NovaSeq X and 3billion’s AI-driven diagnostic expertise marks a pivotal moment in the landscape of rare disease diagnostics. As the global demand for advanced genomic analysis continues to surge, 3billion stands poised at the intersection of innovation and necessity, ready to lead the way in providing cutting-edge solutions for rare disease diagnosis.
