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

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”.