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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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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Today marks eight years of Genomics England! To celebrate, we have three pieces of content to share, which we’ll be releasing throughout the day. The first, an interactive infographic, can be found here:

Click through to find out more about us and some words from some of our team.

Keep posted for the other two!

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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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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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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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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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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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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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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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Genomics England is excited to announce the appointment of Andrew Eland, Annalisa Jenkins and Vikram Bajaj to the Board as Non-Executive Directors.

Andrew Eland, CEO and Founder of Diagonal Work

Andrew, a software engineer by trade, has spent time working with Google, DeepMind and, more recently, Diagonal Work. He originally joined Google in 2005, working predominantly on Google Maps, and was appointed as Engineering Director in 2010. He left four years later to take up another Engineering Director position,

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My daughter was born prematurely and at around 8 months old, she seemed to regress in her development and started making strange jack-knife movements at certain times of the day. She was diagnosed at Addenbrooke’s hospital in Cambridge with a rare and severe form of epilepsy called West syndrome. West syndrome diagnosis is based around the child having very specific and irregular brainwaves, developmental regression and seizures. Luckily, our clinician was actively involved in a clinical trial for treating West syndrome.

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Medical research charity, LifeArc, announces today that it is providing £5 million funding to support the work of the GenOMICC COVID-19 Study, led by the GenOMICC consortium in partnership with Genomics England. The study, launched in May 2020, is using genomics to investigate why some people are affected more severely by COVID-19, and increase our understanding about the disease.

GenOMICC is a global collaboration of doctors and scientists working together to understand and treat serious illnesses,

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In this blog, Chris Wigley, CEO of Genomics England, tells us in his own words why it is so important for us to talk to as many people as possible about genomics, and why we have launched our podcast, The G Word.

I’ve spent my career at the intersection of technology, ethics and human stories. Now, I lead the amazing team here at Genomics England. We’re trying to bring the benefits of genomic medicine to everyone,

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This week, Genomics England has launched its first company podcast. ‘The G Word’ will be hosted by Chris Wigley, our CEO, who will talk to a wide variety of people about all things genomics, with the aim of making the topic more accessible and understandable to all.

He says:

Most people understand that our DNA is the blueprint that lies at the heart of our cells and bodies. Many people have done mail-order genetic tests to explore their heritage,

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