It’s some 30 years since Blade Runner mesmerised cinema audiences worldwide with its bleak vision of a future where genetic engineering was commonplace. It’s not solely down to director Ridley Scott’s tale-telling talent, but genetics is a concept which still carries a whiff of science fiction.
Now though, it’s about to become science fact through the pioneering 100,000 Genomes Project; a three-year initiative to transform the diagnosis and treatment of patients with cancer and rare diseases. NHS England is looking to collect and decode complete sets of genes from 100,000 individuals, allowing researchers, scientists and doctors to initially understand more about such conditions, and then to devise personalised treatments – dubbed ‘precision medicine’.
It’s a national project, but the diverse population mix found in the West Midlands, coupled with the clinical and academic healthcare expertise found in the region, has the potential to put it at the core of genomics worldwide.
Birmingham University professor of surgery, Dion Morton, is leading the project locally, as acting director of the West Midlands Genomics Medicine Centre (WM GMC) – established to link the different processes and elements of the complex initiative. “We’re collaborating with 18 hospital trusts across the region, which will all help to identify patients, collect samples from them and analyse the data,” he says. “The NHS has been introducing new treatments for the last 50 years after carrying out patient trials, but even by its standards of innovation and delivery, this is something special. It’s an incredible initiative which has the potential to transform the way we treat patients.
“The data will allow us to understand the genetic imprint for each patient, so treatment can be personalised for every individual’s specific condition. By looking at the genetic code for each patient, we’ll be able to identify and fine-tune their drug therapy in an individual way.
“We’ll learn not just which treatments are right for each person, but also which would be the wrong treatments and that will deliver huge benefits to the NHS. By increasing efficiency, it will have more financial freedom to look at novel treatments currently considered too expensive.”
The timelines for the Genomes Project are very challenging, but Prof Morton expects the trusts to collect and analyse around 2,000 sets of genes in the first year, and then some 5,000 for each of the next two years. He also predicts that the work will generate significant spin-off benefits, for individual patients and their families. “We’ll be looking at a wide array of rare, but inherited, conditions and of course it will be tremendously useful to accumulate more data on them,” says Prof Morton. “The genetic codes will also give us detailed insight into what future conditions a patient might develop, and therefore what treatments they will require.
“Genomics is the future trajectory of healthcare, but the research carried out over the next three years will deliver appreciable benefits to current, not simply future, patients. In the past, the uptake for trials has been more than 95% of those people who were invited to take part, so we’re expecting a similar response.
“One of the benefits, but also a challenge, is that conditions will be identified which the patient might not be aware of, or ones that might relate to other family members, and everyone is very conscious that such information will have to be delivered to patients in a careful and considered way.
“In terms of delivery, we have created what I call a ‘Flying Squad’, which will visit every participating clinic across the 18 trusts to make sure everything is being done correctly to collect samples, analyse the data and crucially, to counsel every patient fully throughout the process.
“A huge IT network has also been established across the region to collate all the data, so everyone involved is fully aware of every aspect of the project.”
The work of Prof Morton and the WM GMC will be underpinned by the West Midlands Academic Health Science Network (AHSN) – created as a catalyst to stimulate innovation and increase knowledge which improves the health of the regional population of some
Its MD is Dr Chris Parker, who spent the best part of 30 years with the Royal Army Medical Corps, serving in Afghanistan, Africa, the Balkans, Iraq, the Middle East, Northern Ireland, Russia and South-East Asia, and rising to the rank of brigadier, before joining the regional AHSN in January 2014. “There is genuine excitement about the Genomics Project, because it has the potential to change how healthcare is delivered in very practical ways,” he says.
“As the data becomes available, we can target treatment and prevention in a more intelligent, efficient and effective manner. As Dion says, there are significant spin-offs, such as devising improved IT and training programmes for future clinical personnel.
“The results from this initiative will transform the way in which we diagnose, prevent and treat conditions for the benefit of everyone.”
When the project gets formally under way in March, the initial phase will see five regional trusts begin contacting patients and asking them to become involved in the clinical trials. “We need to start the process steadily, to identify if changes need to be made, so we’ll learn from the first phase, then bring the other thirteen trusts on board in two later phases,” says Dr Parker.
“The funding is in place for the project, but it is still a challenging ask because there need to be future funding streams to educate and train the NHS staff who are involved. It is a very exciting time, and I’m sure the level of collaboration we are seeing across the region augurs well for future projects.
“For individual patients being treated for cancers and rare diseases, there’ll be nothing too different happening when the work starts, but nurses in the clinics will obviously be seeking their informed consent for blood and tissue samples to be taken and analysed.
“At the research and analysis stage in the various laboratories, all patient identities will be unknown, so there will be no issues about confidentiality.
“When phase three is underway, and all 18 trusts are involved, then we’ll start going out to the private sector for discussions about new treatments.
“NHS England, the AHSN networks and the pharmaceutical industry will then collaborate over the coming years to hasten the rate at which new technologies can be developed and introduced. It’ll be a gradual process, but I think we’ll see clinical practices changing from as early as 2020 onward in response to the new data and knowledge.
“Looking ahead, we’ll see the West Midlands really coming to the fore in the study of genomics, because it has a wonderful mix of people with different gene-types, so accessing all the different gene pools is an area where we enjoy an advantage, whether they originate from Asia, Africa or elsewhere.
“The quality and spread of the data collected and analysed from this region will be immensely beneficial to the overall project, and ultimately the range of new treatments and technologies created to benefit patients and their families will be exceptional.”