The recent announcement by the Secretary of State for Health and Social Care outlining aspirations to genome sequence 5 million people over the next 5 years will come as no surprise to most of us. We have known for some time that following the official completion of Genomics England 100,000 Genomes Project (100k GP), there would be a concerted effort to roll out Whole Genome Sequencing (WGS) within the NHS clinical infrastructure. The details of this ambition were formally outlined within the Chief Medical Officer, Sally Davies’ 2016 annual report Generation Genome, and later solidified at the 2018 Manchester Health and Care Innovation Expo by Chief Scientific Officer for England Sue Hill, who announced a National Genomic Medicine Service.
However, the Science and Technology select committee on Genomics and Genome Editing in the NHS voiced critical concerns regarding the translation of 100k GP into the NHS, and many clinicians have been vocal in their critique of the clinical performance of 100k GP and planned measures to translate results from the project into the NHS without adequate evidence and audit. Moreover, the infrastructural impacts of the reorganisation of services associated with the launch of the National Genomic Medicine Service, particularly the genomic laboratory hub model, have been notably absent within public debate.
Our belief is that as a multidisciplinary community that has studied and reported on the development, politics and practice of genomic medicine in the UK and elsewhere, we are well placed to shed the necessary critical light on both the conduct and performance of the 100k GP, as well as the prospect of the current model of a National Genomic Medicine Service within the NHS.
There has recently been a concerted campaign by those promoting the 100k GP and the development of the National Medical Genomics Service to win support and resources; including the recent BMJ paper by the Genomics England Consortium (Turnbull et al, 2018) and public events such as; ‘Transforming Medicine through Genomics Conference’ held on November 15th; and the ‘Next steps for genomic medicine in the NHS – regulation, challenges for adoption and priorities for research’ meeting held on 20th November this year. In order to counterbalance this and ensure a fully informed, open public debate on the costs and benefits of the wholesale adoption of WGS in the NHS we think it is timely that our community organise a critical assessment and response.
We invite participation at a small focused workshop to be held at the Institute for Science, Innovation and Society at the University of Oxford as a way to gather expertise and discuss our experience of the problems, politics and promise of genomic medicine in the UK. The workshop will be held over 2 days and will cover four key questions:
- How is whole genome sequencing being deployed within clinical-research practice across a variety of contexts in the UK?
- What are the practical clinical consequences of the development of a Genomic Medicine Service following the Genomics England model?
- What political and governance concerns have arisen from both the practice and promise of the 100,000 Genomes Project and the subsequent development of the Genomic Medicine
- What considerations should be made for the implications of a Genomic Medicine Service Beyond the clinical setting, in both the research and commercial sectors?
- Participants have been invited to explore these questions through open discussion across five sessions outlined below, with the possibility of producing a joined output serving to provide critical insight at a time when the world is looking to the UK for experience and best practice.