AWMGS Secures Additional NovaSeq 6000

Through the Welsh Government ‘Genomics for Precision Strategy’ capital funding we have secured the purchasing of a second Novaseq 6000 produced by Illumina Inc which boasts unprecedented next generation sequencing (NGS) capacity, capable of sequencing multiple human genomes in under 48 hours.

This a significant milestone of the genomics strategy that will allow future delivery plans to be achieved.

Since the installation of the first NovaSeq in 2019, there has been a remarkable demand for whole genome sequencing (WINGS) this alongside the implementation of a comprehensive somatic NGS service (CYSGODI) resulted in upward of 75% instrument capacity being used for service delivery, this was key driver to justify an additional NovaSeq.

Uptake is set to further increase exponentially given the ongoing commitment to repatriate WHSSC commissioned tests at pace, notably the validation of whole genome sequencing for intellectual disability (R29) and congenital anomalies (R27), the implementation of whole exome sequencing and the provision of genomic services for an increased number of cancer referrals, including the development of an NGS based liquid biopsy service.

Upon hearing the outcome of the business case and Welsh Government backing, Head of the All Wales Genomics Laboratory (AWGL) Sian Morgan said:

“The addition of the second Novaseq will support AWMGS to transform the diagnostic genomics services that we provide to our patients across Wales. From high throughput whole exome sequencing, to rapid genome sequencing. We envisage the NovaSeq becoming the main sequencing technology used for NGS data production for diagnostic service in Wales, resulting in faster and larger scale sequencing provision for researchers”.

Looking ahead, Genomics Partnership Wales will continue to oversee delivery of the benefit realisation plan which includes:

- Increased tumour profiling using large DNA and RNA gene panels at diagnosis aligned to NHS long term plan
- Improve cancer and germline turnaround times
- Facilitate the roll out of widespread NGS testing for rare diseases to support parity of access for patients living in Wales to those in the UK
- Improve opportunities for additional partnerships with industry to secure investment in NHS Wales
- Retain and cultivate new skills and experience in Wales