The 100,000 Genomes Project by numbers

This update gives you the number of whole genomes sequenced so far, against our target of 100,000. This figure is updated every month. For more details see our recent update from July. Thank you to everyone who has taken part. Genomes Sequenced:

A Year of Conversations about Genomics

By Vivienne Parry OBE, Head of Engagement at Genomics England When we began the 100,000 Genomes Project, our initial engagement work was with potential participants, affected both by rare disease and cancer. We wanted to know what their principal concerns were. They turned out to be both practical – for instance, what the impact of results might be on their families or if they might be disadvantaged financially by taking…

Findings from the National Consent Evaluation

By Dr Caroline Benjamin, National Service Evaluation Project Lead and Guild Senior Research Fellow, University of Central Lancashire Earlier this year, I and colleagues from NHS Genomic Medicine Centres were asked to deliver an evaluation with the aim to further improve the quality of the consent process and materials in the 100,000 Genomes Project. On behalf of the project team leads, Markella Boudioni (Imperial College London), Eliot Marsden and Antje Lindenmeyer…

The 100,000 Genomes Project features in London’s Science Museum

The Science Museum’s Our Lives in Data exhibition highlights the technology revolution that will impact our lives. More information about our lives is being captured than ever before, and as the amount of data collected grows so does the debate around data ownership. The Science Museum’s newest exhibition, Our Lives in Data, will uncover some of the diverse ways our data is being collected, analysed and used. A person’s full…

Reaction to the Caldicott Review

In September 2015, the Secretary of State for Health asked Dame Fiona Caldicott, the National Data Guardian to work with the Care Quality Commission (CQC) and carry out an intensive review into data sharing in health and social care. The review, published this week, recommends: New data security standards. A method for testing compliance against these standards. A new consent or opt-out model for data sharing in relation to patient…

10,000 Whole Genome Sequences

diagram of DNA mapping

We have now passed the 10,000 milestone, an important achievement for one of the largest DNA sequencing projects in the world. With July’s tally of 11,221 whole genomes sequenced, the NHS Genomic Medicine Centres across England are continuing to recruit rare disease and cancer patients to the 100,000 Genomes Project. Biotech company Illumina are undertaking the genome sequencing and Genomics England, together with clinical interpretation partners are interpreting those sequences to…

Socialising the Genome

By Dr Anna Middleton, Principal Staff Scientist (social science, ethics, genetic counselling), Wellcome Genome Campus, Cambridge. How easy is it to strike up a conversation about genomics? Geno-what? Does the average person on the street know enough about the issues to even care? A project called Socialising the Genome has just been launched to explore how to turn genomics from an anti-social concept to a more social one. Animations were…

Rare Disease Day 2016

Rare Disease Day logo

Our clinical lead for rare disease, Dr Richard Scott, gives an update on our work. February 29th 2016 is Rare Disease Day. Rare disease is a deceptive term. There are 6,000 to 8,000 different rare diseases. This means that although each one is rare, as a group they are common. So much so, that 1 person in 17 is affected with a rare disease. That is 7%. Until recently, these usually…

Latest from the 100,000 Genomes Project

George Freeman MP

Across England patients with cancer are now being recruited to the main phase of the 100,000 Genomes Project, giving the fight against cancer a significant boost. Minister for Life Sciences George Freeman MP announced the news at the Festival of Genomics in London yesterday. Speaking at the conference, the Minister also announced that the government has committed a further £250 million in funding for genomics as part of the recent…

PanelApp has a new look

The Genomics England PanelApp, a crowdsourcing tool that allows knowledge of rare disease genes to be shared and evaluated, has a new look for the New Year. Over the past few months, we have worked to incorporate feedback from users and added new features which will make it easier to review gene panels. Below are some screenshots of the new look. You can explore the platform here (opens in new window). New features You…

First children receive diagnoses through 100,000 Genomes Project

Georgia Walburn-Green with her parents.

The first children to receive a genetic diagnosis through the 100,000 Genomes Project have been given their results at Great Ormond Street Hospital (GOSH), part of the North Thames NHS Genomic Medicine Centre. Both Georgia Walburn-Green and Jessica Wright had rare, undiagnosed, genetic conditions when they joined the Project. Whole genome sequencing pinpointed the underlying genetic changes responsible for their conditions. As well as removing a large amount of uncertainty for…

Call for members of new Participant Panel

lines of text

Joining the Participant Panel We are looking for people who have taken part in the 100,000 Genomes Project to join our national Participant Panel. The 100,000 Genomes Project is a landmark project in healthcare which has the potential to bring personalised medicine to the NHS. This new panel will help shape it’s future. The role of the Participant Panel is to ensure the interests of participants are always at the centre of the 100,000…

5,000 Whole Genome Sequences

tumour sample slide

We have now sequenced over 5,000 whole genomes from patients and their families.  These are largely from our pilot study for which we owe enormous thanks to NIHR Bioresource for Rare Disease, Cancer Research UK and Biomedical Research Centres across the country.  The 100,000 Genomes Project is picking up pace. All 11 NHS Genomic Medicine Centres are up and running and recruiting patients for rare disease. A number of additional families…

Genomics at NHS Expo 2015

The 100,000 Genomes Project had an exhibition stand at the UK’s major health and care conference, NHS Expo. The stand brought together key partners working on this ground-breaking project: Genomics England, Department of Health, NHS England and Health Education England. We also shared the stand with illumina, Congenica and WuXi NextCODE – innovative companies providing genome sequencing and genome interpretation for the Project. Delegates came to visit our shared exhibition stand…

Genomics across the Atlantic

Professor Mark Caulfield and Dr. Alan Winter

Genome British Columbia and Genomics England today signed a Memorandum of Understanding (MOU) to pursue a bold initiative to improve diagnostic capability and outcomes for patients with cancer, rare diseases and infectious diseases. The two groups are working together with the ultimate goal of sharing and co-developing information and tools, and a mechanism for the international exchange of knowledge and materials in the field of genomics. The first phase of…

Oxford starts recruiting to 100,000 Genomes Project

DNA profile

The Oxford NHS Genomic Medicine Centre (GMC) is one of 11 Genomic Medicine Centres delivering the 100,000 Genomes Project across England. Oxford GMC is the first to begin recruiting patients to the main cancer phase of the project. More than 1,200 patients and their families who are looked after by the Oxford University Hospitals NHS Trust (OUHT) will take part. Eligible patients with rare diseases and cancers are being invited…

Clinical Interpretation Partnership – Applications Open

The Genomics England Clinical Interpretation Partnership (GeCIP) brings together researchers, clinicians and trainees from academia and the NHS. Applications are now open to consortia of researchers to form domains. Our vision is to create a powerful research and training programme alongside the 100,00 Genomes Project GeCIP Domains are UK-led consortia of researchers, clinicians and those in training. Each domain will work on improving the clinical application and interpretation of the data…

From One to One Hundred Thousand

15th Anniversary of the Human Genome Project Fifteen years ago today, Bill Clinton and Tony Blair simultaneously announced the first draft of the entire human genome. It had taken £2 billion and the work of tens of thousands of scientists in the UK, the US and around the world to read the 3 billion letters that make up the code of the human genome. The sequence was finally declared complete in 2003.…

Launch of Genomic Medicine Seminar Series

Last week (11th June) we launched our seminar series in Genomic Medicine. We have invited speakers from around the world to come and talk about their experiences of genomic medicine. The talks are designed for clinicians and researchers involved in the 100,000 Genomes Project. The first speaker was Professor Madhuri Hegde from Emory University, USA. Watch her talk below. The details of the next event will be announced here soon.

Masters in Genomic Medicine

The Masters in Genomic Medicine marks the beginning of creating a lasting legacy for patients and the NHS through the 100,000 Genomes Project Our partners at Health Education England (HEE) have recently confirmed the nine Universities across the UK that will deliver the new Masters in Genomic Medicine. The Masters, starting in September 2015, is designed for NHS staff, especially those working in Genomic Medicine Centres on the 100,000 Genomes…