Genome sequencing for sale on the NHS

NHS to sell DNA tests to healthy people in push to find new treatments

Service will be free for patients with serious genetic conditions as health service in England aims to recruit 5 million volunteers

“Major advances have been made in the field of genomics in recent years. We are now able to sequence the entire genome. Rapid advances in genetic technologies have led to greater availability, and at lower costs, of all forms of genetic tests, ranging from online direct to consumer DNA test kits to clinical whole genome sequencing of all 20 000 human genes.

England’s health secretary, Matt Hancock, recently announced plans to offer healthy people the option to have their whole genome sequenced by the NHS for an as yet undisclosed fee (thought to be a few hundred pounds). These “genomics volunteers” would receive a personalised health report indicating genetic risks of various diseases including cancer, dementia, and cardiovascular disease. These extensive personal genomic data will be shared with researchers to provide opportunities to improve our understanding of human diseases.

This proposal raises several important clinical, logistic, social, and ethical issues, …”

Continue reading Think again, Mr Hancock, on The BMJ, 25 February 2019.

Medical Informatics Bioinformatics Infographic

How Computer Science is changing Biology.

How computer science is changing medicine and prediction of disease

Bioinformatics-Infograhic
Bioinformatics is the careful application of computers and statistics to the field of biology. Infographic via @NJIT

As you probably know, Angelina Jolie recently had a second preventive procedure due to her carrying the BRCA1 gene variant which raises the risk of developing breast cancer by over 55%, and ovarian cancer by almost 40%.

Such news has sparked a dramatic increase of interest in both bioinformatics and specialized genetic testing.

This important infographic created by NJIT’s Computer Science program, explains Bioinformatics as well as highlights breast cancer genetic risk testing in particular. Find more about the Amount of Data Generated Today, Benefits of Bioinformatics, Existing Bioinformatics Projects and Personal Genomics Companies.

Sources and more information

First UK patients diagnosed through genome sequencing

DNA sequencing breakthrough in the UK

Content on this post is produced by GOV UK Department of Health

DNA_sequencing_tubetest image
The use of genome sequencing to diagnose 2 families with rare diseases has been announced along with other milestones in medical innovation. Image via @DHgovuk

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:

” 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:

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. “

What is a Genome?

Find out in this short animated video

Eleven new centres across England have been chosen to deliver the 100,000 Genomes Project. The 100,000 Genomes Project involves collecting and decoding 100,000 human genomes – complete sets of people’s genes – that will enable scientists and doctors to understand more about specific conditions including rare diseases and cancer. But – what is a genome? Find out in Department of Health short animated video.

More information

The fundamentals of genomics and its growing importance for healthcare

Genetics education video, 2014

With new technologies we can now examine the whole of a person’s DNA — their genome — quicker and cheaper than ever before. In this video, Vivienne Parry OBE introduces the fundamentals of genomics and its growing importance for healthcare.

More information

Eleven new centres to lead genomics project

Eleven locations across England have been chosen to deliver the 100,000 Genomes Project

DNA_sequencing image
Eleven new centres across England have been chosen to deliver the 100,000 Genomes Project.

The 3-year project, launched by the Prime Minister earlier this year, aims to improve diagnosis and treatment for patients with cancer and rare diseases.

The initiative involves collecting and decoding 100,000 human genomes – complete sets of people’s genes – that will enable scientists and doctors to understand more about specific conditions.

The project has the potential to improve our ability to predict and prevent disease. It may also lead to new and more precise diagnostic tests, and the ability to more accurately personalise drugs and other treatments to specific genetic variants.

It is anticipated that over 75,000 people will be involved, which will include some patients with life threatening and debilitating disease.

After samples are collected, they will be sent securely to Illumina who have been procured by Genomics England to sequence the whole genome and to analyse it. Results will be sent back to the NHS for validation and clinical action.

The 11 designated Genomic Medicine Centres (GMCs) in this first selection process are based across the country covering areas including Greater Manchester, the North West coast, Oxford, Birmingham and the West Midlands, Southampton, London, Cambridge and the East of England, Exeter and the South West Peninsula, and the North East.

Over the lifetime of the project NHS England’s ambition is to secure more than 100 participating NHS trusts.

Designated Genomic Medicine Centres
  1. East of England NHS GMC – designated for both cancer and rare disease.
    Led by Cambridge University Hospitals NHS Foundation Trust;
  2. South London NHS GMC – designated for both cancer and rare disease.
    Led by Guy’s and St Thomas’ NHS Foundation Trust.
  3. North West Coast NHS GMC – designated for both cancer and rare disease.
    Led by Liverpool Women’s NHS Foundation Trust.
  4. Greater Manchester NHS GMC – designated for both cancer and rare disease.
    Led by Central Manchester University Hospitals NHS Foundation Trust
  5. University College London Partners NHS GMC – designated for both cancer and rare disease.
    Led by Great Ormond Street Hospital NHS Foundation Trust
  6. North East and North Cumbria NHS GMC – designated GMC for rare disease only.
    Led by The Newcastle upon Tyne Hospitals NHS Foundation Trust.
  7. Oxford NHS GMC – designated for both cancer and rare disease.
    Led by Oxford University Hospitals Foundation Trust.
  8. South West Peninsula NHS GMC – designated for both cancer and rare disease.
    Led by Royal Devon & Exeter NHS Foundation Trust.
  9. Wessex NHS GMC – designated for both cancer and rare disease.
    Led by University Hospital Southampton NHS Foundation Trust.
  10. Imperial College Health Partners NHS GMC – designated for both cancer and rare disease.
    Led by Imperial College Healthcare NHS Trust.
  11. West Midlands NHS GMC – designated for both cancer and rare disease.
    Led by University Hospitals Birmingham NHS Foundation Trust.
Life Sciences Minister George Freeman said:

Our understanding of genomics is transforming the landscape for disease diagnosis and medicines research. We want to make the UK the best place in the world to design and discover 21st century medicines which is why we have invested in the 100,000 Genomes Project. We also want to ensure NHS patients benefit which is why we have now selected NHS hospitals to help us sequence genomes on an unprecedented scale and bring better treatments to people with cancers and rare diseases for generations to come. ”

Professor Sir Bruce Keogh, NHS England’s National Medical Director, said:

This is an achievable ambition which positions Britain to unlock longstanding mysteries of disease on behalf of humankind. Embracing genomics will position us at the forefront of science and make the NHS the most scientifically advanced healthcare system in the world. This is the start of a unique, exciting journey that will bring benefits for patients, for the NHS and for society at large. ”

Professor Sue Hill, the Chief Scientific Officer for England, who chaired the team evaluating the various applicant GMCs said:

The NHS has risen to both the challenge and opportunity of delivering its contribution to the 100,000 whole genomes project in the most extraordinary and unparalleled way. Locally in the NHS, there has been clearly demonstrated engagement and involvement of senior managers, clinical teams, clinical genetic and molecular pathology laboratories and critically patients and the public, all committed to using the science of whole genome sequencing to making a real and lasting difference for patient benefit. ”

Professor Mark Caulfield, Chief Scientist at Genomics England

The creation of the new NHS Genomic Medicine Centres will play a key role in bringing together researchers, NHS clinicians and trainees to work on whole genome data that has never been collected on this scale before. We have a clear goal of accelerating the findings from the programme back into mainstream healthcare at the fastest possible pace, meaning more rapid results for patients. ”

Sources and more information

  • Eleven new centres to lead genomics project,
    gov.uk, 22 December 2014.
  • NHS Genomic Medicine Centres announced for 100,000 Genomes Project, genomicsengland, December 22, 2014.
  • Human genome: UK to become world number 1 in DNA testinggov.uk, 1 August 2014.

How Genomics works, the Process, Better Diagnosis for Better Medicine

Genomics Infographic: UK to become world number one in DNA testing with plan to revolutionise fight against cancer and rare diseases

Understanding Genomics

  • How it works
  • The Process
  • Better diagnosis for better medecine
genomics infographic
UK to become world number one in DNA testing with plan to revolutionise fight against cancer and rare diseases – @GenomicsEngland .

The 100,000 Genomes Projectv aiming to revolutionise medicine by unlocking the secrets of DNA, is under way in centres across England.

On Flickr®

What is Genomics? Comparing Sequencing Before and Now

Genome Infographic: UK to become world number one in DNA testing with plan to revolutionise fight against cancer and rare diseases

Understanding Genomics

  • What is a genome?
  • What is genomics?
  • Sequencing: before, now, why?
genome infographic
UK to become world number one in DNA testing with plan to revolutionise fight against cancer and rare diseases – @GenomicsEngland .

The 100,000 Genomes Projectv aiming to revolutionise medicine by unlocking the secrets of DNA, is under way in centres across England.

On Flickr®

Is Genomics England the New Space Race?

UK DNA Testing Massive Challenge

image of DNA
£300 million investment that will transform how diseases are diagnosed and treated announced by the UK Prime Minister yesterday. The 100,000 Genomes Project, aiming to revolutionise medicine by unlocking the secrets of DNA is under way in centres across England.

England is poised to take a giant leap into the brave new world of genomic medicine, wherein everyone will eventually have their entire three billion letters of their genetic code unravelled in order to diagnose, treat and even predict future illnesses.

Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy through the sequencing of 100,000 genomes: the 100,000 Genomes Project.

Genomics England was set up by the Department of Health to deliver the 100,000 Genomes Project. Initially the focus will be on rare disease, cancer and infectious disease. The project is currently in its pilot phase and will be completed by the end of 2017.

The UK is set to become the world leader in ground-breaking genetic research into cancer and rare diseases, which will transform how diseases are diagnosed and treated, thanks to a package of investment worth more than £300 million, the Prime Minister announced yesterday.

Sources and More Information:

  • Human genome: UK to become world number 1 in DNA testing, Gov.UK, press release, Aug. 1, 2014.
  • The 100,000 Genomes Project, GenomicsEngland,
    website and PDF.
  • DNA project ‘to make UK world genetic research leader’, BBC News, health-28488313, Aug. 1, 2014.
  • Government backs massive new £300m gene sequencing project, Independent, Health News, Aug. 1, 2014.