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Data and digital infrastructure key to genomic sequencing success, say MPs

Science and Technology Committee says genomics had potential to revolutionise the NHS, but is worried delays to NHS digital projects and data sharing concerns could threaten progress

MPs have called on government to increase investment in digital infrastructure to ensure the NHS is prepared for the challenges genome sequencing brings.

The Science and Technology Committee’s report on genomics said that genome sequencing brings huge opportunities for the UK, but that the government must ensure the NHS and life sciences sectors have the right infrastructure and data sharing agreements in place.

In March 2018, the government-funded 100,000 Genomes Project, reached the halfway point, having sequences 50,000 genomes, with the goal to complete the project by the end of 2018 – a year after it was originally due to be completed.   

The aim of the project, run by Genomics England, is to use big data and genetics to develop personalised medicine, being able to target treatment for the individual patient.

The project also aims to kickstart a UK genomics industry, ensuring the UK emerges as a leader in the field, and once the project is completed, genomic technologies will be embedded in the NHS through a new genomic medicine service, which is set to launch during 2018.

The committee said it welcomed the government’s commitment to fund the digital infrastructure required for the genomic medicine service, but that there are no confirmed budgets in place.

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Giving evidence to the committee, professor Sian Ellard of the South West NHS Genomic Medicine Centre said it was unrealistic to expect “all of the planned infrastructure to be in place” for the launch of the genomic medicine service. 

“Significant digital infrastructure is needed to support routine genomic medicine, and it is welcome that some centres and hospitals already have solutions in place. However, the wider programme to improve NHS infrastructure is running to a later timeframe than the planned genomic medicine service,” the committee’s report said.

“The digital infrastructure in place should be one consideration involved in decisions on providing whole genome sequencing in place of conventional alternative diagnostic tests, to avoid attempting to roll out a Genomic Medicine Service at a speed that cannot be delivered.”

Committee chair, Norman Lamb, said that the new service “could dramatically improve the health outcomes of UK citizens, but that the committee is concerned its potential is threatened by delays to digital projects.

“We are concerned that the NHS’s delayed digital infrastructure projects will slow down the roll out of genomics in the UK. We are calling on the Government to continue, and increase, its investment in this area and allocate specific funding to the necessary genomics technology and systems,” he said.

Data sharing and interoperability issues

The government aims to set up a number of genomic centres, or “hubs” across the UK, however exactly how many are yet to be confirmed. NHS chief medical officer Sally Davies told the committee that ideally two or three hubs would be ideal, however NHS England is planning for seven genomics hubs.

Many of these are already operational, due to the 100,000 genomes project. Sian Ellard from the South West NHS Genomic Medicine Centre, told the committee there is a huge amount of work to be done.

“Each of the genetics laboratories in England already has an IT system, and what we will need to do is link those systems to central databases and to hospitals’ pathology laboratories, and then have a way of delivering the results back to the clinicians through electronic patient records, while also having systems in place where those are not yet embedded across the country,” Ellard told the committee.

The genomics medicine service will also require interoperability between computer systems across the NHS.

NHS England’s chief scientific officer, Sue Hill, told the committee that the budget is split into two areas: building a national solution, which has been set at £6m-£9m, and actually enabling the rest of the NHS to integrate with the solution and be able to capture and upload genomic data across the NHS.

“The costs for the wider NHS development are not yet fully determined as this is linked and integral to the whole of the digital maturity development of the NHS,” Hill told the committee. Despite this, there will be a system for sharing genomic data in place by this autumn.

Planned infrastructure

Hill said it would be unrealistic to expect all of the planned infrastructure to be ready for the launch of the service.

As well as sharing data across the NHS, the data collected through the genome programmes, will “constitute the best data resource for genomic medicine in the world,” the report said, adding that the NHS could “benefit greatly” from realising the commercial value of the datasets.

“Genomics England should explore technological and commercial mechanisms to enable better integration of the genomics data they hold with other NHS data and data owned by private companies,” the report said. 

Patient consent

Another key stumbling block is having patients understand, and consent to having their data shared. Genomic sequencing in its very nature, requires patient data, and the public needs to be assured that privacy rules are respected, the committee said.

Public trust, which was significantly diminished after the Care.data scandal, is key and the committee called on the government to address the public’s concerns and “significantly increase its efforts to raise public awareness of genomic medicine, and the data-sharing needed to enable it, ahead of the introduction of the planned genomic medicine service”.  

“The importance of data sharing for genomic medicine presents a challenge to the concept of restricting the usage of patients’ data to their direct personal care,” the committee added.

“Whether or not the NHS Constitution is changed to reflect the increasingly blurred distinction between genomics research and clinical care, public support will be vital to the delivery of an NHS Genomic Medicine Service.”

Many are concerned that any patient data they share will be disclosed to insurance providers  and the committee said it’s important that “patients are not deterred from undertaking genomic diagnostics as a result of fears relating to any consequences for insurance”.

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