UK Department of Health announce first genomic success stories.

Health Secretary, Jeremy Hunt, and Life Sciences Minister, George Freeman, will be making some very special announcements today. 

The announcement will also outline a package of measures designed to keep the UK at the forefront of new medical innovations. The Government is making its position clear – they are determined to introduce far more advanced technologies and modern approaches to medicine into day-to-day use within the NHS, capitalising on the UK’s growing life sciences sector. As there has been around £3.5 billion private investment in the UK life sciences sector in the three years since the Government’s Life Sciences Strategy was launched, now certainly seems like a good time to really make some progress that patients will feel.

With the plan being to make the UK the number on place in the world for using DNA sequencing as part of patient care, today’s announcement will include the following:

  • DNA sequencing breakthrough. Two families have been diagnosed with rare conditions for the first time as part of a project at Newcastle Hospitals and University that used an analysis of their genomes – the complete set of people’s genes – to properly understand the health issues they are experiencing. They will now receive effective, personalised treatment, as well as helping prevent future generations who share their DNA from suffering a life of uncertainty about similar symptoms.  

100,000 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.

  • First drug fast-tracked to NHS patients under new scheme. The first drug to be approved through the Early Access to Medicine Scheme (EAMS) has been named as pembrolizumab, which is designed to treat patients with advanced melanoma. The treatment is considered a next generation drug in cancer care, stimulating the bodies immune system to fight the disease and is the first to have been made available under this scheme. The scheme has been set up to fast track access to promising unlicensed medicines to severely ill patients, meaning that this drug is available to be prescribed to patients much earlier than it would normally have been before the EAMS was established.
  • Green light for two proton beam therapy centres. The building of two state-of-art proton beam therapy cancer treatment centres at University College London Hospitals NHS Foundation Trust and the Christie NHS Foundation Trust in Manchester will start this summer. Varian Medical Systems has been named as the equipment supplier for both, with Bouygues UK as the building contractor for UCLH and Interserve Construction Ltd at the Christie.

The government has invested £250 million in the facilities to give NHS patients a highly-targeted type of radiotherapy that can treat hard-to-reach cancers without causing damage to surrounding tissue or other side effects. The centres are expected to open for patients in 2018.

  • Review into medical innovation and technology gets under way. Sir Hugh Taylor, Chair of Guy’s and St Thomas’ NHS Foundation Trust, has been named as the chair of a review to revolutionise and dramatically increase the speed at which 21st century innovations such as precision medicines, digital devices, apps, diagnostics and new therapeutic technologies get to patients and their families. Sir Hugh Taylor will be supported by Professor Sir John Bell, Regius Professor of Medicine at Oxford University.

As part of the announcement, Jeremy Hunt and George Freeman will visit the project in Newcastle today to meet with scientists, doctors and the first patients benefiting from the genome scheme.


Jeremy Hunt is expected to say:

“The breakthroughs that we are announcing today shows the UK and the NHS leading the world in genomic research, and will help ensure that people in our country will get the most advanced treatments, all underpinned by a strong economy.

“The families that are receiving a first diagnosis have been given a fresh start, opening the door for new treatments for future generations with rare diseases. 

“We want the NHS and UK to be the best place in the world to design and discover 21st century medicines, which are boosting the economy and creating jobs across the country. That’s why our investment in the 100,000 Genomes Project is so important.”

As part of the 100,000 Genomes Project pilot scheme, Newcastle University and the Newcastle NHS Hospitals Trust made the first two diagnoses:

  • Leslie Hedley, 57, has a life-long history of high blood pressure and protein in his urine, 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 has early signs of kidney damage. There was a concern that her daughter Katie could also be affected.

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.

  • Two brothers, Alan and William Carpenter, aged 72 and 79, with muscle loss and weakness have been diagnosed with inherited nerve damage, known as peripheral neuropathy – this is the first time this particular genetic mutation has been identified. The brothers could be joining a treatment trial which, if successful, could prevent family members developing the same condition.


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.”

Professor Mark Caulfield, Chief Scientist at Genomics England said:

“The 100,000 Genome Project are delighted to be returning our first diagnoses to families with rare disease from our whole genome sequencing. More will follow over the coming months.”


Life Sciences Minister George Freeman said:

“The explosion of biomedical innovation – whether in genomics, regenerative medicine or digital health is transforming 21st century medicine. But in recent years too many NHS patients have had to wait too long to access new treatments and slow uptake also threatens life science industry investment.

 “Today’s announcements show that the UK is now leading in the global race to accelerate access to medical innovations which are key to our economic health.

“It’s working for our economy as well as NHS patients. The latest data shows that since we launched the UK Life Science Strategy we have attracted £3.5 billion of investment into the UK creating 11,000 jobs.”


On proton beam therapy, Public Health Minister Jane Ellison said:

“The NHS is rising to the challenge on cancer – dealing with 700,000 more admissions this parliament compared to the last, while at the same time survival rates are rising to record levels.

“We want NHS patients to have the very best care and treatment and today’s announcement brings us a crucial step closer to offering cancer patients proton beam therapy in the UK.”