Next steps in the Sequence

Case study

The work

PHG Foundation was pivotal in the development of a strategic vision for the implementation of genomic technologies within the National Health Service (NHS) with a series of landmark reports, principal among these the seminal Next Steps in the Sequence, published in 2011.

(WGS technologies will have) a very substantial impact on human disease...(the new report) takes you to the heart of all the issues

Sir John Bell, Regius Professor of Medicine at the University of Oxford and chair of HGSG

The motivation

In 2009, the sheer quantity and complexity of the information generated by next generation sequencing technologies, along with ever-changing understanding of the function of genomes in health and disease, presented new challenges for health systems. This led the UK House of Lords Science and Technology Committee to release a report calling for the development of a strategic vision for implementation of genomic technologies within the NHS.

What we did

  • Reviewed existing and emerging next generation sequencing technologies and their clinical applications in cancer and rare disease and projected realistic future clinical applications
  • Evaluated the economic, ethical, legal, infrastructure and social implications of next generation sequencing technologies and whole genome sequencing for health services
  • Convened experts from a wide range of relevant fields to consider and debate recommendations for implementation of whole genome sequencing within the UK
  • Produced the world’s first comprehensive analysis of the issues involved in implementing whole genome sequencing technologies in a health system and gave recommendations to maximise the technologies benefits to patients
  • Presented the report to the UK government advisory body, the Human Genomics Strategy Group, who drew on its content and recommendations in designing the health service strategy. The HGSG report in turn led to the establishment of the 100,000 Genomes Project run by the NHS-owned company Genomics England

Genomics and policy newsletter

Sign up