NHS ‘off the pace’ in genetic research

It’s a major issue – but travel to Leeds and the work of a unique collaboration between academics and doctors may serve as inspiration for how the NHS could make more of the life saving advances new genetic technologies can deliver.

Professor Sir John Bell at the University of Oxford told Channel 4 News: “We are at a crossroads where we need to decide how vigorously we want to pursue this in the NHS.”

Professor Bell chairs the Human Genomics Strategy Group, set up by David Cameron to improve new advances in genetic medicine in the health service. He cautions that the genetic basis of disease and the technology for accessing genetic data is improving far faster than the NHS is making use of it.

“The NHS has to now move to adopt the technology it will need to be able to deliver data to doctors and patients to make sure that their care improves at the rate of our understanding of genetics,” he said.

We are at a crossroads where we need to decide how vigorously we want to pursue this in the NHS. Professor John Bell

It is becoming commonplace in the NHS to screen a patient’s DNA to assess their risk of a certain type of cancer – or their cancer’s sensitivity to certain drugs. But these are relatively straightforward tests looking for one or two known genetic mutations.

Genetic factors

Elsewhere in the NHS, genetic screening is almost exclusively reserved for investigating rare or unexplained inherited diseases – often metabolic or developmental disorders in children. Again, these services are usually only looking for one or two genetic defects.

In common diseases like cancer, heart disease and diabetes there are many genetic factors, as well as complex relationships between a person’s genetics, lifestyle and environment.

But the latest technology for sequencing human genomes and its application to NHS care is already well established in one, perhaps unlikely, part of the UK.

The Genomic Services Lab at St James’ University Hospital in Leeds has a long track record of diagnosing entirely new genetic diseases. Just last year the team, led by Professor Colin Johnson from Leeds University, worked to identify the mutation behind an entirely new genetic illness that causes muscle wasting in babies. Since the service began, they have described more than a hundred new inherited disorders.

The reason for their success is partly an accident of geography. Surrounding them is the largest British Pakistani population in the UK and traditionally many Pakistani couples are first cousins. In towns like Bradford, home to a large Pakistani community, as many as 70 per cent of marriages are cousin-to-cousin.

The absolute risk of cousin marriages leading to genetic abnormalities is small – similar to the risk of a woman over 40 having a baby with Down’s syndrome. But in couples who both carry the same silent, or recessive, mutation, the risk of them having an affected child is one in four.

As a result, the rate of recessive genetic disorders in the British Pakistani population is about 16 times higher than the average for the UK. In order to meet that clinical need, the team in Leeds claim they have developed new ways of sequencing genetic data faster and more cheaply than most other NHS hospitals.

Interdisciplinary approach to genetics

What’s more, academic geneticists like Colin Johnson have forged strong relationships with NHS doctors and nurses who need answers. It’s the kind of interdisciplinary approach to genetics that Sir John Bell argues the NHS will need more of.

“We’re quite a closely linked community between the genetics side, the clinical side, the diagnostics lab and the innovation unit that actually develops the findings that come from the research lab and translates them for patient benefit,” Mr Johnson told Channel 4 News.

Without being accused of hype you can say this is going to explode across the NHS. Professor Sir Alex Markham

But replicating some of what they have learned in Leeds and Bradford across the whole NHS will not be simple. While Mr Johnson’s team have to scour entire genomes to search for mutated disease genes, they are only caused by one genetic mutation. If the NHS were to start screening each patient’s genome to better understand a common disease like heart disease or cancer, the picture could get very complicated, very quickly.

Professor Sir Alex Markham, also at Leeds, is concerned about how the NHS could cope.

“We’re already moving to tens to hundreds of thousands of patients with cancer having some degree of genetic sequencing done and without being accused of hype you can say this is going to explode across the NHS,” he said.

Professor Markham warns of the need for counselling for patients who in future might get a diagnosis from their doctor based on genetics but the actual risks of which are difficult to explain using current medical terminology.

On top of that, there’s the more basic problem of how to manage the sheer volume of data tens of thousands patient’s genomes will bring.

“If we’re looking at billions of base-pairs of DNA in an individual, that data is going to have to be stored and analysed and moving this information around really isn’t a skill-set the NHS has at all right now,” said Professor Markham.