A uniquely English genomic medicine service

Natasha Cowan|26th July 2019

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In November, Matt Hancock, the UK Secretary of State for Health and Social Care, announced the next stage of the government’s plan for genomic medicine in the UK. He revealed his ambition to reach 5,000,000 genomic analyses across the country. Importantly, the plan called for genomic sequencing to be embedded across the nation as a standard offering for patients.

His speech marked the next phase of a project, which began in 2013 with the formation of Genomics England. The company was set the task of sequencing 100,000 genomes, and last year it reached its target, leaving behind a legacy of data for the National Health Service (NHS).

Now, Hancock has tasked the team with embedding these processes on a far wider scale and sustainably rolling out whole genome sequencing across the nation. This means developing agile processes and platforms that can respond to new discoveries at rapid speed.

Blue Latitude Health sat down with Dr Tom Fowler, Deputy Chief Scientist and Director of Public Health at Genomics England, to find out how the organisation is ensuring every patient has access to genomic medicine.

the NHS never questioned whether precision medicines will be accessible for the masses. Instead, it is focusing on how to make that a reality. 

A NATIONALISED SYSTEM

During the last 15 years, the NHS has been quietly considering how to respond and adapt to precision medicine. The egalitarian nature of the nationalised service places great weight on establishing how new innovations can meet the needs of every patient, while ensuring precision medicine is free at the point of delivery.

This means the UK is uniquely positioned to develop a uniform approach to embedding precision medicine through a single system in which new processes and technologies can be rolled out. As a result, the NHS never questioned whether precision medicines will be accessible for the masses. Instead, it is focusing on how to make that a reality.

Dr Tom Fowler has played a core role in implementing genomic medicine in the UK. As Director of Public Health at Genomics England, he led the rare disease pilot phase of the 100,000 Genomes Project. Now he’s helping to make genomic medicine an ordinary part of patient care.

“What we’re doing is cutting edge,” he explains. “It means moving from a single project to building a new standardised service – a whole series of exciting things come along with that. We have to think about novel ways of working with very new information.”

“One of the big challenges is building the relevant structures and systems to make this work, as well as embedding the platforms. There are always going to be challenges around developing a national system, but that’s also why this endeavour is so interesting.”

ENDING THE DIAGNOSTIC ODYSSEY

To prepare England for precision medicine, the NHS is rolling out a genomic medicine service to give patients who have not benefitted from standard clinical tests access to whole genome sequencing.

The hope is that this will prevent patients from becoming trapped in a ‘diagnostic odyssey’, in which they attend numerous doctor’s appointments and have many tests before receiving a diagnosis. This process can take years, but Genomics England believes whole genome sequencing could provide much faster results.

Helping these patients will mean carrying out whole genome sequencing upfront, before other genetic tests are conducted. However, the human genome consists of 2.9 billion base pairs, equating to 752 megabytes of data per person. Much of this data is uninterpretable and needs to be compared with clinical information and other genomic data for insights to be captured.

Adding to the complexity, new discoveries are being made at a rapid speed and this research needs to be fed back into the knowledge base of testing to ensure the findings benefit other patients. As a result, the service has to be responsive to technological and scientific advancements.

“As new knowledge is generated, we can identify rare variants,” says Tom. “This information has to be returned to the NHS Genomic Medicine Centres. That’s why we’re very careful to say we don’t return reports. Instead, we return results of genomic analysis, which are then clinically interpreted by the NHS and the most appropriate accredited laboratories.”

These virtual panels are designed to foster consensus across the scientific community. It’s important for clinicians to prioritise the information found during whole genome sequencing, so they can sift through the vast amounts of data to find subtle variations.

The genomic data included in the virtual panels come from a variety of sources and each gene has been reviewed and appraised by experts using a traffic light system. For example, if there is sufficient evidence for a gene causing a disorder, it is ranked green; if we are awaiting further evidence for a potentially promising gene it is rated amber, and genes considered to have insufficient evidence are rated red. If a gene is highly ranked it can be confidently included in the panel.

“We all acknowledge the challenge of keeping up with the knowledge in this particular space. One of the key advantages of having virtual panels is that when you have to adapt and change, you can do it in a virtual sense rather than a physical sense. It makes it more efficient and much easier to keep up with those changes,” Tom explains.

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