Intended for healthcare professionals


Network of UK centres is needed to deliver genomic technology across medical specialties

BMJ 2012; 344 doi: (Published 27 January 2012) Cite this as: BMJ 2012;344:e701
  1. Susan Mayor
  1. 1London

The UK should develop a strategy setting out how the NHS will adopt genomic technology as part of routine patient care to ensure its potential is fully realised, an expert group has recommended.

The Human Genomics Strategy Group was set up in 2010 to monitor advances in genetic and genomics research and to evaluate their benefit to healthcare services in the NHS.

In a report published on 25 January the independent cross government group sets out a strategic vision for how the healthcare system in the UK—and particularly the NHS—can make best use of genomic technology.

“We are currently on the cusp of a revolution in healthcare: genomic medicine—patient diagnosis and treatment based on information about a person’s entire DNA sequence, or genome—becoming part of mainstream healthcare practice,” the group suggests.

It argues the potential for the NHS is considerable, enabling doctors to diagnose diseases and detect variants more precisely and quickly; to tailor treatment to a patient’s exact variant and to reflect their wider genetic make up; and to better identify people at higher risk genetically of inherited disease and a range of common chronic conditions.

Professor Sir John Bell, chair of the group, said, “Genomics expands our knowledge beyond single gene analysis to the whole genome, increasing our ability to gauge an individual’s risk of disease and support better diagnosis and treatment. Our recommendations to the government lay out key steps that can be taken now and in the near future to realise this goal.”

To streamline the introduction of genomic technology into routine NHS care the group recommends that the government should develop a white paper or similar cross cutting, strategic document, setting out the overarching policy direction. This would set clear objectives and include a framework for realising the potential of genomic technologies already available and those that will be developed in the future.

To inform this strategy, the expert group recommends commissioning health economics studies to quantify the costs and benefits of investing in genomic medicine.

The NHS Commissioning Board, which will oversee GP clinical commissioning groups from April 2013 should the health bill become law, should lead on how new genetic testing and related technologies are used, the group suggests.

“Commissioning is central to the adoption and diffusion of innovation and new technology within the NHS,” says the report. “Given the level of technological complexity, we believe genetic and genomic services would . . . be best delivered through national specialised commissioning via centres that can demonstrably meet quality, turnaround, cost and data standards.”

The group considers it is vital to establish a national repository for storing genomic and genetic data, and relevant phenotypic data from patients to ensure that information is collected for further research.

Mark Walport, director of the Wellcome Trust, commented, “We particularly support the proposal to link genomic data to patients’ anonymised medical records through a secure national centre, which would create an unparalleled resource for research and diagnosis without compromising confidentiality or privacy. It is also important to develop medical informatics services that can make sense of complex genomic data, and to update professional training to meet the challenges of the genomic age.”

The expert group considers that the NHS needs to develop a new service delivery model for using genomic technologies in clinical practice. Most NHS genetics services are currently delivered by regional genetics centres. But the group points out these work mainly in clinical genetics, so would need reconfiguring to provide services across other medical disciplines, including cancer and microbiology.

To achieve this, the group suggests the service delivery model should consist of a network of genomic technology centres, which focus on translating research into service innovation; biomedical diagnostic hubs, which incorporate all current laboratory-based diagnostic services in pathology and genetics; and regional genetics centres, which will continue to lead in the diagnosis and management of inherited diseases but also work in other disease areas where genetic testing can guide patient care.

To ensure NHS healthcare professionals are able to embrace the potential of genomics, the group recommends urgent action to review genomics training and education and to develop core educational standards in this area.

Stuart Hogarth, research fellow in the Global Biopolitics Research Group at King’s College London, questioned the real impact of genomics on routine healthcare. “This report grossly exaggerates the current utility of testing for risk of common, complex diseases. For the most part, at the moment we can do no more than tell people that they are at slightly higher than average risk or slightly lower than average risk; information which makes no difference to the kind of disease prevention strategies we should all be following (healthy diet, moderate alcohol intake, regular exercise),” he said.

“The report describes genomic medicine as a ‘major step change in medical practice,’ but the reality is that most diagnostic innovation is incremental and additive, not revolutionary. The example of HPV testing in cervical cancer screening perfectly illustrates that point: in the US it has not replaced cytology-based screening, it is used as an additional screen or to investigate borderline cytology results.”

Professor Sir John Bell is Regius professor of medicine at the University of Oxford and president of the Academy of Medical Sciences. He founded the Wellcome Trust Centre for Human Genetics in Oxford. He sits on a wide range of advisory panels for public and private sector bodies responsible for biomedical research in Canada, Sweden, Denmark, France, Singapore and the UK. He sat on the Scientific Advisory Board for AstraZeneca from 1997 to 2000 and the Scientific Advisory Board of the Roche Palo Alto facility since 1998. He is a non-executive director of Roche AG (since 2001). He is also a founding director of three biotechnology start up companies.


Cite this as: BMJ 2012;344:e701


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