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The use of genome sequencing to diagnose 2 families with rare diseases has been announced along with other milestones in medical innovation.

The milestones announced yesterday includes:

DNA sequencing breakthrough

Patients in the NHS are now receiving personalised care based on their DNA code. Two families have been diagnosed with rare conditions 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.

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.

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 body’s immune system to fight the disease.

Green light for 2 proton beam therapy centres

The building of 2 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

Find out more about the review chaired by Sir Hugh Taylor, Chair of Guy’s and St Thomas’s NHS Foundation Trust.

Secretary of State for Health Jeremy Hunt said yesterday:

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 Genome Project is so important.

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 yesterday:

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 yesterday:

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.

Rare diseases: a family’s journey

Video developed by Health Education England