February 2, 2026
Illumina returned as a key contributor to the event, sharing insights from ongoing collaborations across research, healthcare, and industry, and highlighting how genomic innovation continues to drive improved outcomes for patients.
Illumina scientists and partners participated in several high‑profile sessions across the program, with a strong focus on rare disease, pediatric care, and translational research.
On day one, Illumina and the Exeter NHS Genomics Laboratory took to the main stage with “Evaluating Constellation: Insights into NHS Pediatric Acute Care Pathways.” The session highlighted collaborative work within the Rare and Inherited Disease NHS Genomic Network of Excellence, describing early evaluation of Illumina constellation mapped read technology and its potential to inform future neonatal and pediatric acute care pathways within the NHS.
Speakers Emma Baple, professor of genomic medicine at the University of Exeter; Andrew Parrish of the Exeter Genomics Laboratory at the Royal Devon University Healthcare NHS Foundation Trust; and Richard Capper, Illumina Senior Director of Global Research Customer Segment Marketing, shared how this cutting‑edge long‑range sequencing approach provides research insights that may increase diagnostic yield, reduce time to diagnosis, and help identify variants previously inaccessible to short‑read genome sequencing. The session also featured results from collaborative work using the Illumina 5‑Base solution, enabling simultaneous genome sequencing and methylation profiling in a single assay.
Following that, Illumina’s Alison Selle and Timon Heide moderated a panel discussion, “Genomic AI: Building Intelligence for National Health Systems with Global Standards.” It focused on how artificial intelligence is being designed to support large‑scale genomics and public health initiatives. Augusto Rendon, chief bioinformatician at Genomics England; Sarah Ennis, research director at the NHS; and Sasha Siegel, chief products officer and AI workstream lead at GA4GH explored the role of AI across healthcare delivery, national genomics programs, and standards of organizations, highlighting the importance of global collaboration and interoperability as genomics continues to scale within health systems.
To end the day, Illumina also hosted a session focused on pediatric oncology. In “Uncovering the origin of tumor heterogeneity in pediatric high‑grade gliomas using novel human organoid models,” Richard Capper was joined by Roxy Finger, PhD student at the Princess Máxima Center and Utrecht University. The presentation examined how genetic alterations drive highly aggressive brain tumors in children and adolescents, and how single‑cell approaches and novel organoid models may uncover therapeutic targets in these devastating diseases.
On the second day, Anthony Rogers, associate director of scientific research at Illumina, joined Greg Elgar, director of sequencing R&D at Genomics England, to present “Building a High‑Quality Multiomic Dataset in Rare Disease.” The session explored the multiomics pilot within the 100,000 Genomes Project, combining genomics, transcriptomics, and proteomics data to study rare disease cohorts. Speakers shared how this integrated approach has enabled new diagnoses in previously undiagnosed cases, underscoring the value of high‑quality, scalable multiomic datasets in advancing rare disease research.
Throughout the two days, Illumina’s presence on the exhibition floor provided a hub for discussion, networking, and collaboration. Attendees met with Illumina experts to discuss recent innovations across sequencing and multiomics, exchange insights, and explore how Illumina technologies are being applied across research and clinical settings.
Illumina is proud to have once again participated in the UK Festival of Genomics & Biodata and to contribute to the conversations shaping the future of genomics and healthcare.
