Whole genome sequencing improves diagnosis of rare diseases and shortens diagnostic journeys for patients, according to world first study

A world-first scientific study, published today in the New England Journal of Medicine, has shown that whole genome sequencing (WGS) can uncover new diagnoses for people across the broadest range of rare diseases investigated to date and could deliver enormous benefits across the NHS.

The pilot study of rare undiagnosed diseases involved analysing the genes of 4,660 people from 2,183 families – all of whom were early participants in the 100,000 Genomes Project.

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Significant new developments in long-read sequencing at Genomics England

  • Novel nanopore sequencing technology used to sequence long reads of over 100 cancer tumours from 100,000 Genomes Project
  • Findings show benefits of long-read sequencing where structural changes in genome can be spotted more easily
  • Study is proof-of-concept for Genomics England to build analytical pipeline, with appropriate procurement, for long-read sequencing to be used alongside existing short-read sequencing technology to support clinical decisions

Using cutting-edge analytics, the cancer team at Genomics England have analysed a first batch of over 100 whole genome sequences generated by novel technology from tumour samples from the 100,000 Genomes Project.

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What we do and why we do it: Genomics England’s Innovation Showcase 21

Chris Wigley, CEO of Genomics England, talks about launching our strategy and the four pillars that underpin it, and how our Innovation Showcase event in September opened up conversations for our current strategic priorities. 

Genomics England’s mission is powerful in its simplicity: to bring the benefits of genomic healthcare to everyone. We do that by providing two big services to enable the genomics ecosystem in England and the UK.

The first big service is enabling genomic healthcare: building on the foundation of the 100,000 Genomes Project,

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Health Secretary participates in Diverse Data Initiative aimed at reducing health inequalities

The Rt Hon Sajid Javid MP, Secretary of State for Health and Social Care, has today provided a blood sample so that his genome can be sequenced, as part of Genomics England’s Diverse Data Initiative.

The Secretary of State chose to participate during a visit to Great Ormond Street Hospital and the sample will now be mapped by a sequencing lab at the Sanger Centre near Cambridge. His genome data will be de-identified and stored in the National Genomic Research Library,

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Genomics England announces appointment of new Chief Scientific Officer

Genomics England today announces the appointment of Professor Matt Brown as the organisation’s new Chief Scientific Officer following a rigorous recruitment process.

Professor Brown is an internationally renowned clinician-scientist, and is currently Professor of Medicine at King’s College London, as well as Director of the NIHR Guy’s and St Thomas’ Biomedical Research Centre.

He has a deep background in genomics, and has previously been Director of Genomics and Distinguished Professor at the Queensland University of Technology.

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Genomics England’s PanelApp at the heart of international collaboration

Using the PanelApp platform, Australian Genomics and Genomics England joined forces to tackle the challenges of assessing evidence for gene-disease associations and integrating it into diagnostic practice.

Accurate clinical diagnoses rely on the knowledge we have about which genes cause disease, but currently there is still a lot of variability in the understanding of gene panels, with over 4,000 known gene-disease associations and more published year on year.

Together, the two teams published a new study in the American Journal of Human Genetics on 30 July,

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New public dialogue finds support for the use of whole genome sequencing in newborn screening – providing that the right safeguards and resources are in place

Father holding baby

A new national public dialogue commissioned by Genomics England, the UK National Screening Committee and UK Research and Innovation’s Sciencewise programme finds that members of the public are broadly supportive of the use of whole genome sequencing (WGS) in newborn screening. However, they expect proper consideration to be given to designing and planning any future use of this technology. This, they recommend, includes involving the public and ensuring appropriate resources, investment and safeguards are in place.

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Genomics England’s 8th Birthday: Augusto on being pioneers in bioinformatics

I feel privileged to have spent the last seven years at Genomics England. Looking back, there has been an immense amount of progress both by us at Genomics England and by the international genomics community. But progress always feels slow to come; we often joke that it sometimes felt like we were flying a plane while building the wings. Yet it flies.

When the 100,000 Genomes Project started in 2013, only a few hundred genomes and a few thousand exomes had been sequenced in the UK.

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Genomics England’s 8th Birthday: Chris on forging a path towards better healthcare for all

Eight years ago today, Genomics England was launched with a mission to ‘unlock the power of DNA’ through the 100,000 Genomes Project. For nearly a decade we’ve worked to make this a reality. Now we are expanding on what we’ve learned, to help shape the future of healthcare in the UK.

The 100,000 Genomes Project was the most ambitious of its kind anywhere in the world. It combined genomic sequence data with medical records to create a ground-breaking research resource that developed researchers’ knowledge about genomics and has been responsible for driving real-world clinical results.

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Professor Sir Mark Caulfield departs Genomics England

Professor Sir Mark Caulfield will be leaving his role as Chief Scientist at Genomics England at the end of July 2021 to take up the position of Chief Executive at Barts Life Sciences. Although we are sad to see him leave, we hope to continue collaborating with him to advance genomic medicine and are excited to see what he can achieve in his new role.

Mark departs with our gratitude and best wishes,

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Public dialogue on whole genome sequencing for newborn screening

Launch of a public dialogue on using WGS for newborn screening

Register for an online event on 8 July to find out about a nationwide public dialogue on the implications of using whole genome sequencing for newborn screening.

One hundred and thirty members of the public from around the UK have taken part in a dialogue about the implications for the NHS and society of using whole genome sequencing for newborn screening.

The dialogue was commissioned by Genomics England and the UK National Screening Committee,

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Undiagnosed Children’s Day 2021: Baroness Nicola Blackwood shares her own diagnostic odyssey

I was an undiagnosed child once. I know what it feels like to spend years getting really ill but no one really knowing what was wrong. On average in the UK it takes 4-7 years to diagnose a rare disease – for many rare disease patients it is much longer.

I went through the ups and downs (mainly downs) of the diagnostic odyssey – referral to referral, specialist to specialist. I knew the frustration at not receiving a proper answer and knew the pain of not receiving proper treatment.

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New algorithm flags genetic weaknesses in cancer tumours

A study funded by Cancer Research UK and published today in the journal Nature Cancer, has found a new way to identify tumours which could be sensitive to particular cancer therapies and has been developed using data from NHS cancer patients in the 100,000 Genomes Project. The new algorithm, called MMRDetect, allows researchers to see which tumour cells have weaknesses in their ability to repair themselves and means cancer patients can receive personalised treatments.

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Professor Sir Mark Caulfield: Placing participants at the heart of genomics in the UK

I look back in awe over these past 5 years and the extraordinary journey the Participant Panel and Genomics England have taken together, through both the 100,000 Genomes Project, and the establishment of the NHS Genomics Medicine Service. Awe, because I hold the enduring memory of the inspiring contribution each of the Panel have selflessly made on behalf of your fellow participants, to ensure the success of the programme. The Participant Panel have tirelessly kept the interests of the wider participants in the forefront of our minds at Genomics England and NHS England. 

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New PHG Foundation report on Sano Genetics patient engagement platform

Today the PHG Foundation has published its report, commissioned by Genomics England, examining the legal and ethical implications of an online platform for patient engagement in precision medicine research being developed by Sano Genetics.

In May 2020, Genomics England announced that it was collaborating with precision medicine research start-up Sano Genetics and data management firm Zetta Genomics to develop a platform that would allow rare disease patients and their caregivers to add vital additional information about their health and wellbeing to research databases.

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Vivienne Parry celebrates our Participant Panel’s achievements on their 5th anniversary

When Genomics England began back in 2013, the very idea that we could sequence 100,000 genomes was an audacious one.  No-one had ever done it before.  And, if the technical challenge wasn’t enough, there was also an NHS transformation project to deliver, which would, if everything worked out, be the basis for a new NHS Genomic Medicine Service.   Finally, for good measure, there was the development of a major research facility, which could turn genomic information into new knowledge,

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A Shared Journey of Discovery – Jillian Hastings Ward reflects on the fifth anniversary of Genomics England’s Participant Panel

We’d love you to join the Participant Panel! Can you come to the first meeting, on Monday?

So began a personal adventure, better than I ever imagined, with a group of people who continue to inspire me on a weekly basis. From a genetics appointment in London, to addressing conference audiences in San Diego and Melbourne; from parenting a severely disabled child with an undiagnosed condition, to helping establish a global community of families like us.

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International Women’s Day 2021 blog: Baroness Nicola Blackwood celebrates women involved in the fight against COVID-19

Exactly three months ago, 90-year-old grandmother Margaret Keenan became the first person in the world to receive a COVID-19 vaccine. This landmark event, a major turning point in the battle against the virus, came less than a year after the first recorded coronavirus case in the UK. A remarkable feat of endeavour by science and healthcare.

Margaret’s story is the culmination of an unparalleled journey by the global health and scientific community, who have so admirably fought back against a disease about which we knew so little this time last year.

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International Women’s Day 2021 blog: Dr Christine Patch pays tribute to Dame Fiona Caldicott

On International Women’s Day, Dr Christine Patch, Clinical Lead for Genetic Counselling at Genomic England, talks about stepping into the role of Genomics England’s Caldicott Guardian, and pays tribute to the first National Data Guardian, Dame Fiona Caldicott.

The sad news of Dame Fiona Caldicott’s passing last month caused an outpouring of gratitude from around the health and social care sector. Dame Fiona’s vision was that everyone should be able to trust that their personal confidential data is protected and being used appropriately.

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