I recently attended the Festival of Genomics & Biodata 2025 in London, a two-day event bringing together researchers, industry leaders, and healthcare professionals to discuss the latest developments in genomics and biodata. It was an opportunity to hear about new technologies, evolving challenges, and the future direction of the field.

Here’s my key takeaways:

One of the major announcements was the NHS’s plan to develop a Unified Genomic Record, allowing patients and healthcare professionals to access genomic data more seamlessly. While this could improve continuity of care and research integration, it also raises questions about data security, privacy, and feasibility. Ensuring responsible implementation will be crucial.

Illumina introduced Constellation, a new sequencing and analysis platform that eliminates the need for library preparation, delivering data post-Dragen processing. This could significantly streamline workflows, especially in clinical and high-throughput settings. I really liked its approach to phasing mother-baby samples, which aims to improve equity in genomic applications. This is something that will change the rare disease field if sick newborns can have a immediate diagnostic with whole-genome sequencing from cordblood.

Long-read sequencing remains a key topic of discussion, with multiple presentations emphasizing its importance in capturing structural variants (SVs). Short reads miss about 50% of them. A particularly interesting concept was adaptive sequencing, where an in silico BED file directs nanopores to selectively sequence certain molecules, allowing for targeted sequencing of repeat regions. Additionally, T2T (telomere-to-telomere) assemblies are now being used to map complex structural rearrangements, which could enhance variant interpretation. This will definitively improve the diagnostic yield at multidisciplinaty teams.

Nextflow continues to be a widely adopted workflow management system, and a key update from Seqera was a feature allowing AWS spot instances to restart from a saved memory state. I also had the chance to meet early-career researchers and students looking to enter bioinformatics. One master’s student asked for advice on finding a job, and I emphasized that a PhD is not always required. Many university research groups have grant-funded positions for bioinformaticians, and reaching out to professors can be a good starting point for those looking to enter the field.

A recurring theme was the need for better representation of patient experiences in genomic research. Few talks addressed how participants perceive the research process or what support they receive. I would like to see this more at conferences.