NHS maps out 100K genomes medicine plans

NHS England expects to have contracts in place with providers by January 2015 for its ambitious project to sequence 100,000 genomes and link the results with a national database of electronic patient records.

A paper presented to the NHS England board last week says it is aiming to have the 100,000 genome sequences done by the end of 2017 and it is launching a process for selecting ‘NHS Genomic Medicine Centres.’

Health secretary Jeremy Hunt launched the project to sequence 100,000 human genomes and link these to electronic patient records in June last year.

The 100K Genome project is led by a new arms length organisation called Genomics England, which is owned and funded by the Department of Health.

A spokesperson for NHS England told EHI: “The launch of the NHS Genomic Medicine Centre selection process represents an exciting moment for patients and in the history of the NHS where we will begin to see a step change in our ability to deliver truly personalised care for patients.

“100,000 Genomes sequenced is just the start but will result in benefits for patients for generations to come. Clinicians and scientists working in the NHS will be leading the world internationally in this exciting endeavour”.

NHS England has also issued a prospectus on the genomics programme, which says the aim is to be a pioneer in the global genomics industry by the end of 2015.

The prospectus says that in the first instance, it expects to select between three and five genomics centres to commence enrolment of cases in January 2015.

It adds that potential diseases that could be considered during the life of the programme includes cancer and rare and inherited diseases such as neurological, cardiac and undiagnosed conditions.

NHS England is responsible a number of “deliverables” on the project, including identifying, collecting and supplying high quality samples for the project, ensuring “clinical advocacy” and developing an “effective clinician and patient feedback mechanism.”

“NHS England is required to have sufficient contracts in place with participating providers to enable sample acquisition to start from 1 January 2015,” says NHS England’s board paper.

“We therefore intend to embark on a process of clinical site selection, where successful providers will enter into a contract with NHS England for the supply of services to support the 100,000 Genome Project.”

 “We intend to use the selection and contracting process to provide assurance and a high degree of confidence in the ability of the selected sites to supply the sufficient quantity and quality of samples,” says the board paper.

“A track record of providing similar services and/or activities that the 100,000 Genome Project requires will be essential.”

The Department of Health and NHS England have agreed a capital investment fund of approximately £10m to be made available to selected providers in order to “enhance the development of such information systems.

“The informatics system will need to capture clinical management data and patient-specific clinical, laboratory, imaging, etc. data compliant with NHS national data standards,” says the paper.

“These data need to be combined with the variant results obtained by whole genome sequencing and presented to clinical care teams in a clinically relevant manner.”

NHS England recognises that there are issues related to the project, such as intellectual property, evidence supporting the selection of which disease areas the programme will focus on and agreement of the “optimal mechanisms in the system for ensuring high quality DNA extraction and the receipt of the approved Genomics England consent and ethics documentation.”

The paper says the board is working with the DH and Genomics England to reach consensus on these issues.

“Of paramount importance is the issue of informed patient consent. The 100,000 Genome Project is based on the altruistic donation of data on the basis of informed consent,” adds the paper.

“Along-side this we will need to ensure that we have a fully trained and developed clinical workforce able to apply genomic medicine within the NHS and raise awareness and understanding of the advantages genomic medicine can bring to patients. “

NHS England is responsible for 90,000 of the 100,000 genomes. The remaining 10,000 will be delivered via eight pilot sites in a project ran by Genomics England.

EHI reported in May that one of these pilots is being done by health and biomedical informatics company Aridhia, which will attempt to establish a ‘gold standard’ benchmark for genomic data.

NHS England will be holding provider information days on 21 and 22 July and an invitation to tender will be issued during that same week.