Adrianto Wirawan: How Genie Empowers Genomic England’s Generation Study
Adrianto Wirawan - Director of Bioinformatics Engineering at Genomics England
Genomics England is UK government-funded organisation committed to advancing genomic healthcare. Established in 2013, the organisation successfully completed the landmark 100,000 Genomes Project, sequencing whole genomes from patients with rare diseases and cancer. Building on this success and in partnership with the National Health Service (NHS), Genomics England now supports the NHS Genomic Medicine Service (GMS), delivering whole genome sequencing diagnostics across the NHS. One of Genomic England’s pivotal new initiatives is the Generation Study programme. Every year, hundreds of babies in the UK are born with rare genetic conditions. Early intervention can dramatically improve their health outcomes and quality of life, but timely diagnosis remains challenging, often delaying critical care. The Generation Study aims to sequence and analyse the genomes of 100,000 newborns, evaluating the potential of whole genome sequencing to enable earlier diagnosis and intervention for a targeted set of actionable, childhood-onset genetic conditions. To manage the increasing scale and complexity of genomic data analysis required by this national-scale initiative, Genomics England transitioned from its internal bioinformatics workflow engine, Bertha, to Genie — a scalable and powerful solution built on the Seqera Platform and Nextflow. This presentation will highlight how Genie enhances Genomics England’s bioinformatics capabilities, enabling the organisation to efficiently meet the demands of the Generation Study.
Nextflow Summit Boston 2025
https://summit.nextflow.io/2025/bosto...