Shared exchange enhances 100,000 Genomes Project

An electronic data collection system has enabled 18 trusts across the West Midlands to contribute to the national 100,000 Genomes Project.

The Genomic Information Exchange was built specifically for the West Midlands Genomic Medicine Centre (WMGMC), which covers 18 trusts.

The centre is one of the 13 participating in the ambitious £300 million project, launched in 2012, which aims to sequence 100,000 genomes from 70,000 people.

The genomic data will then be linked with medical records to enable scientists and doctors to understand more about specific conditions. Participants are NHS patients with a rare disease, and their families, alongside patients with cancer.

Healthcare consultancy firm, GE Healthcare Finnamore, conducted an innovation audit of the WMGMC. The report describes exchange as an “EPR type system” that reduces data re-entry, holds data locally for research use and enables an “end-to-end workflow”.

Kam Rai, head of programme delivery and development at University Hospitals Birmingham NHS Foundation Trust, said exchange is an in-house developed product to support data collection.

“It does not replace our EPR, what it does is it enhances it.”

Rai said the web-based system is accessible to all the trusts.

“What they can see from a confidential point of view is just the data they enter. That comes in centrally, once the labs have matched them to the sample data they’re able to click and send off the full dataset sample off to 100,000 genomes,” Rai said.

The audit, published in September, also said that the exchange had boosted “the development of the overall digital maturity of the region”.

The WMCMC will deliver 13,000 genomes for the 100,000 Genomes Project. The scheme is led by an organisation called Genomics England, which is owned and funded by the Department of Health.

Other centres involved in the programme are now looking to use exchange too with North Thames, Newcastle and Royal Devon and Exeter/South West all signed up, Rai said.

While technically the exchange was “quite straight forward”, the challenges came from the “forever moving goal posts of Genomics England’s requirements”. This meant having to be responsive enough to ensure the correct data was delivered in the time frames.

Dion Morton, clinical director of WMGMC and a consultant surgeon at University Hospitals Birmingham, said that the interoperability of exchange has allowed the region to think as a whole when it comes to other developments.

“We’ve just started a new initiative to look at quality assurance of different speciality areas across all hospitals in West Midlands, and that’s as a consequence of joining up our IT and our systems.”

The WMCMC is one of the largest centres in the country.

When announced in 2012, the 100,000 genomes were due to be sequenced by 2017, but Morton said it has now been extended into early 2018. Genomics England did not respond to questions on their timeline, but its website still refers to the original date of 2017.