The latest annual report from Professor Dame Sally Davies, the Chief Medical Officer (CMO) for England unveils a “genomic dream” vision, whereby whole genome screening (WGS) might soon become standard practice in the NHS, much like blood tests and biopsies. Ideally, the service should be centralised, with a national network to ensure equal access to testing across the country.
Professor Dame Sally Davies’s eighth independent annual report examines the state of genomic services in the NHS in England, and explores the potential for genomics to improve health / prevent ill-health. It covers:
- Diagnosis of rare diseases.
- The use of genomics in personalised prevention.
This report investigates existing gaps in:
- Public engagement, and issues of potential concern such as privacy and data protection.
- Organisation of genomic research.
- Provision of genomic services.
“A new National Genomics Board would be set up, chaired by a minister, to oversee the expansion and development of genomic services”.
Roberts, M. (2017). Chief medical officer calls for gene testing revolution. London: BBC Health News, July 4th 2017.
This relates to:
Annual report of the Chief Medical Officer 2016: Generation Genome. London: Department of Health, July 2017.
Possibly of interest, the NIHR BioResource Rare Diseases and NIHR Rare Diseases Translational Research Collaboration (RD-TRC) involve fourteen themes:
- Dementia and Neurodegenerative Disease.
- Eye disease.
- Gastrointestinal disease.
- Non-malignant Haematology.
- Immunological disorders.
- Metabolism and Endocrinology.
- Musculoskeletal disease.
- Neuromuscular disorders.
- Respiratory disease.
- Skin disease.
- Renal disease.
Planned Continuation of the 100,000 Genome Project?
The 100,000 Genome Project (launched in 2012) reached its target in December 2018. The NHS is reported to have plans for Genomic England, a company set-up and owned by the NHS, to recruit genomic volunteers whose genomic information (duly shared and anonymised) may contribute to developments in the understanding and possible future treatment of serious health conditions, including dementia and other non-communicable diseases.
NHS to offer paid-for DNA tests if patients share data. London: BBC Health News, January 26th 2019.
The Pan-Cancer Analysis of Whole Genomes Consortium
International cancer research:
Gallagher, J. (2020). Landmark study to transform cancer treatment. London: BBC Health News, February 5th 2020.
See also, for a more measured interpretation:
Could a new study give hope for earlier diagnosis of cancer? London: NHS Digital; Behind the Headlines, February 6th 2020.
This relates to:
Gerstung, M. Jolly, C. [and] Leshchiner, I. [et al]; PCAWG Evolution and Heterogeneity Working Group; PCAWG Consortium (2020). The evolutionary history of 2,658 cancers. Nature. February 2020; Vol.578(7793): pp.122-128.