First patients diagnosed in 100,000 Genomes Project

The UK’s National Health Service (NHS) has taken its first steps towards providing personalised care based on genomic data.

The first two patients enrolled in the 100,000 Genomes Project have been diagnosed, paving the way for an expansion of the ground-breaking programme.

The government wants the NHS to become a world leader in mapping and analysing the genes of individuals, and then providing personalised treatment.

The two patients have rare inherited diseases and have been diagnosed by Newcastle University and Hospitals who have worked with Genomics England to analyse the genomes and validate the findings in the pilot scheme.

One of the patients is Leslie Hedley, 57, who has a life-long history of high blood pressure, causing kidney failure. His first kidney transplant failed and he has received a second transplant. His father, brother and uncle all died of the same condition and his daughter Terri Parker, 34 has early signs of kidney damage. There was a concern that her daughter could also be affected.

Professor Patrick Chinnery, Director of the Institute of Genetic Medicine at Newcastle University said:

“Patients of Newcastle Hospitals are the first to receive a diagnosis through whole genome sequencing by Genomics England, leading to changes in the treatment the NHS can offer their families. Knowing the genetic cause will allow the NHS to give the best treatment possible to these families.”

Whole genome sequencing revealed Mr Hedley’s kidney failure was caused by a particular genetic variant. His family is also being tested and their blood pressure can now be effectively controlled by drugs available on the NHS.

He said: “I was keen to take part in the project as I felt it was important to try and find out as much as possible about my condition for my daughter and granddaughter. Now that my daughter, Terri, has been given a diagnosis it means that her condition can be monitored every year to see if there are any changes.

“Research has come on a long way, and it is important that we do our bit to help as much as we can.”

Tests have now helped to establish that Terri’s daughter, Katie, does not have the condition, which came as a relief to the rest of the family.

The second family, brothers William and Allan Carpenter, aged 79 and 69, suffered from muscle loss and weakness. They have now been diagnosed with inherited nerve damage, known as peripheral neuropathy. This is the first time this particular genetic mutation has been identified. The brothers may be joining a treatment trial which, if successful, could prevent family members developing the same condition.

Genomics England’s Chief Scientist Professor Mark Caulfield said he was delighted that the first diagnoses had occurred, and promised more would follow in the coming months.

One hundred thousand genomes will be sequenced across the country, making the UK the world-leader in collecting and decoding human genomes to help scientists and doctors understand rare disease and design personalised treatments.

The 100,000 Genomes Project has now received ethical approval to expand beyond its pilot phase, which has focused on patients with cancer and rare diseases.

Despite the excitement surrounding the project, including the forward-thinking approach of the UK, many experts in the field are wary of raising hopes too early.

Tom Fowler of Genomics England recently emphasised that the project is still in its infancy in terms of its impact on day-to-day care.

“It is a real challenge to work out how to take this data and apply it to patient care,” he said.

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