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The 28th International KOGO Annual Conference
'From Genomic Big Data to Biology and Medicine'

National Scale Population Genomics Programmes: A framework for Success.

Christian Bourne

Population Genomics, Illumina.

The utilisation of whole genome sequencing within the healthcare environment in population genomics (PopGen) programmes is driving improvements in clinical care. Whilst each programme will be unique, they share the same necessity for the highest possible standards & deep collaboration between the multiple key stakeholders including clinical, academic, pharma, biotech & big data.

In 2018 the UK successfully completed the 100,000 genomes project on schedule. This project was a global first & has great potential to provide guidance to other initiatives. Illumina Laboratory Services was the ISO:15189(2012) accredited Sequencing Service Provider for Genomics England & the UK government that successfully sequenced all participants. Illumina & its global PopGen team of professionals with direct involvement in the project, including Christian Bourne as Project Manager for the initial pilot phase, are therefore in a unique position to share insights, experiences & necessary requirements for successful design & implementation of a PopGen initiative.

The UK’s National Health Service seeks to sequence a further 500,000 patients within a broader strategic aspiration to provide genetic testing for 5M over 5 years. To support this next phase of the national project, the Genomic Medicine Service, Illumina have successfully accredited the NovaSeqTM 6000 System for use within the ultra-high throughput sequencing environment of Illumina Laboratory Service.

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