Can you give an overview of Illumina’s presence in the genomics space?

Illumina has been at the forefront of genomics for decades. We have invested heavily in bringing innovations to the market that enable greater use of genomics and multiple applications by increasing accessibility and driving down the cost of sequencing. We are dedicated to enabling our customer’s success and have focused intently on reducing the cost of a genome while maintaining the quality of performance and greater insights. While 2023 was a tough year for the life sciences industry overall, it was the first full year delivering Illumina’s latest high-throughput platform, NovaSeq X, to our customers, with approximately 350 placements in 2023. This proved to be our strongest launch ever for a high-throughput platform and speaks to the significant demand for genomics. What is Illumina’s approach to strategic partnerships, and how crucial are these partnerships to continue building the genomics ecosystem?

We collaborate to expand access to next-generation sequencing (NGS), to pioneer new applications and technologies, and more. This includes the creation of large datasets for discovery purposes to jointly develop the next, most meaningful clinical applications that can benefit from our technology. In 2022, Illumina and NashBio launched the Alliance for Genomic Discovery aiming to accelerate the development of therapeutics through large-scale genomics and the establishment of a preeminent clinical genomic resource. We continue to onboard new members and today, the Alliance is a consortium of eight pharma partners -- AbbVie, Amgen, AstraZeneca, Bayer Bristol Myers Squibb (BMS), GSK, Merck, and Novo Nordisk -- that have agreed to collaborate in the generation of 250,000 whole-genomes for discovery purposes. Member companies aim to identify disease associations and targets for intervention by analyzing whole-genome sequence data derived from Vanderbilt University Medical Center's BioVU, a biobank of more than 250,000 de-identified human DNA samples and associated longitudinal, structured, and de-identified clinical data. This is an innovative new model for the ecosystem and benefits both the industry and the biobank by unlocking the value of the rich information through a consortium approach. The significant scale of this project reflects the value of genomics for various applications going forward. How do AI and machine learning come into play when talking about data analytics, and what is the next frontier in that regard?

Downstream, we have a team focused on developing an AI model to help interpret mutations and start to understand genome biology through AI. In terms of interpretation, Illumina’s Emedgene research tool leverages AI, referred to as “Explainable AI” or XAI, to comb through variations in a genome and illustrate connections between gene variants and phenotype information, providing all logic and evidence that the user can follow to find the causative mutation for genetic and rare disease applications. Overall, AI tools are increasing efficiency and accelerating timelines for genomic applications. Where is Illumina taking its NovaSeq X platform going forward?

Illumina recently launched our 25B flow cell, a technology that enables the lowest cost structure that we have been able to deliver on the NovaSeq X Plus. This permits a new scale of experiments to gain a deeper understanding of functional genomics and biology. With the advent of CRISPR gene editing techniques and single-cell genomic assays, scientists are now able to run massively parallel experiments by editing genes in individual cells and reading out the impact on biological function using sequencing. NovaSeq X also enables new applications that were out of reach of our prior cost structure, such as routine deep sequencing to monitor for early signals of cancer recurrence in the blood, also called molecular residual disease (MRD) detection. In 2024, Illumina announced collaborations with Johnson & Johnson Innovative Medicine and Bristol Myers Squibb to innovate on our MRD assay, currently under development on a whole-genome backbone. These collaborations reflect the value of our unique MRD technology and the promise of Illumina’s whole-genome approach in oncology. Are you seeing more companies willing to make investments in innovative technologies?

We are increasingly seeing companies deeply incorporating genomics throughout multiple, different, aspects of their business – from research and discovery applications through diagnostic and therapeutic development. Genomics is integral to delivering on the promise of precision medicine, and we continue to improve our technologies to enable our customers to get the most out of their genomic applications.