Study will generate a key reference data set with Illumina Protein Prep solution

Illumina, Inc., a global leader in DNA sequencing and array-based technologies, has announced a pilot proteomics program to analyze 50,000 UK Biobank samples in collaboration with deCODE Genetics, Standard BioTools, Tecan, GSK, Johnson & Johnson, and Novartis. The pilot program is based on Illumina's upcoming proteomics assay, Illumina Protein Prep™, powered by SOMAmer® technology, a next-generation sequencing (NGS) based solution that will help scale access to proteomic insights.

Proteomics enables the observation of direct cellular function to improve understanding of the role of proteins in health and disease, and facilitates biomarker discovery for conditions such as cancer and cardiovascular disease. Researchers use protein quantitative trait loci (pQTLs), which are emerging as a vital proteogenomic tool for drug discovery, linking genetic variation with protein expression data and disease or other phenotypes. With the advent of high-throughput proteomics methods such as Illumina Protein Prep, the discovery of new pQTLs is now more accessible.

"UK Biobank data has set the standard as a reference dataset for the omics community, and we're excited to collaborate across the health care industry in this pilot study as we prepare to launch Illumina Protein Prep," said Steve Barnard, PhD, chief technology officer of Illumina. "We believe the pilot program will generate a new collection of high-quality, NGS-based proteomics data for the research community and pharma partners to advance biological insights."

UK Biobank will provide 50,000 samples from the same study participants who are included in the UK Biobank Pharma Proteomics Project, a separate research collaboration between the UK Biobank and 14 biopharmaceutical companies. deCODE Genetics will process the samples using the Illumina Protein Prep solution and NovaSeq™ X Plus system, and run analysis using the DRAGEN Protein Quantification pipeline. The first 30,000 samples are funded through coinvestment from Illumina, deCODE Genetics, and Standard BioTools, Inc., with automation partner support from Tecan. The data generated from these first 30,000 samples will be made available by UK Biobank immediately to the scientific research community upon completion and when the resulting data has undergone quality control, expected in the second half 2025.

For the data generated from an additional 20,000 samples, in alignment with UK Biobank's standard practice, members of the industry consortium will have a period of exclusive access. Industry participants include deCODE Genetics and pharma collaborators GSK, Johnson & Johnson, and Novartis. Following that period, the data will be made available by UK Biobank to the wider scientific research community. Illumina anticipates that additional companies will join the consortium.

Professor Sir Rory Collins, Principal Investigator and chief executive of UK Biobank said: "This addition of increasingly rich proteomics data will help researchers paint an even more dynamic picture of how an individual's genetics, environment and lifestyle come together to impact the development of different diseases."

"This project complements the work of the UK Biobank Pharma Proteomics Project, by providing additional proteomic assay data for 50,000 of the UK Biobank volunteers' blood samples. I am excited to see how the global scientific community will use these different sources of data to make leaps forward in the development of new ways to prevent and treat a wide range of diseases."

"Proteomics is entering a transformative era, with the human health impact constrained to date by the limits of legacy technologies," said Michael Egholm, PhD, chief executive officer of Standard BioTools Inc. "Today marks a critical milestone, as we seamlessly integrate DNA-based SOMAmers' unparalleled multiplexing capacity with the leading NGS platform, and unlock the power of the UK Biobank to accelerate human health." 

The Illumina Protein Prep assay detects 9000 unique human proteins powered by 11,000 SOMAmer (Slow Off-rate Modified Aptamers) reagents, enabling sample-to-analysis proteomics discovery studies. The solution has been in early access limited release with customers, detecting 6000 human proteins, and is compatible with the NovaSeq X, NovaSeq X Plus, and NovaSeq 6000 Systems, enabling multiomics on a single platform. The solution will launch in the first half of 2025.

About Illumina

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments.