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Preimplantation Genetic Diagnosis: The Who, the What, the Why and the How


 

Delivering the Genomic Dream across the NHS

17 July 2017

By Professor Sue Hill

Chief Scientific Officer for England, NHS England

Appeared in BioNews 909

The Chief Medical Officer's Annual Report Generation Genome provides a comprehensive and considered focus on the potential of genomic technologies – coupled with clinical and phenotypic data – to transform the lives of patients. It provides an important addition to the growing focus on genomic technologies as part of a modern healthcare system.

As the report recognises, the NHS is already a global leader in genomic medicine and the journey to making the Genomic Dream a reality for NHS patients is already well underway. This has been made possible because of the willingness and enthusiasm of the patients and their families to engage with and contribute to this field. This, in turn, allows the service build on the long history of genetics and genomics in the NHS, the strong relationships with the academic community, and coupled with the progress being made through the 100,000 Genomes Project (the Project).

The Project is providing the 'proof of principle' for mainstreaming whole genome sequencing across our health system. The NHS Genomic Medicine Centres (established through the Project) are recruiting and gaining patients' consent; providing DNA samples from both blood and cancer tissue and clinical information for analysis; establishing mechanisms for validating results; and working with clinical staff to broaden the use of genomics across clinical specialities.

The mission now is for the NHS to build on its leading position and deliver the 'Genomic Dream' at scale and pace. NHS England is working in partnership with Genomics England to create the future infrastructure, in particular to:

  • Create a network of genomic laboratories for rare disease, cancer and other conditions, working to clear common standards and protocols.

  • Develop a genomic testing directory to direct the commissioning system from single genes up to the level of whole genome sequencing and across the functional genomic pathway. This will inform which tests should be superseded and replaced by new technology.

  • Work with NHS Genomic Medicine Centres to further transform pathways of care and create the multidisciplinary teams and cross-professional infrastructure that will be critical for the future.

  • Engage in a broader public dialogue to ensure that patients and the public are confident in the use of genomic technologies.

Alongside this, the Health Education England Genomics Education Programme is supporting the development and upskilling of the healthcare workforce. But we know we still need to do more to ensure everyone working in the NHS has the appropriate skills and competencies to harness the potential of these technologies for the future of healthcare.

This is a really exciting time. I look forward to working further with colleagues across national organisations and local services and clinicians and patients over the coming months and years, as we work together to turn the Genomic Dream into an everyday reality for NHS patients up and down the country.


Professor Sue Hill is speaking at the Progress Educational Trust/Genomics England event 'What Does Consent Mean for Generation Genome?', taking place in Manchester on the evening of Monday 11 September 2017.

Find out more here, and book your free place by emailing email

SOURCES & REFERENCES
Chief Medical Officer | 04 July 2017
 

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