In 2012, David Cameron announced the 100,000 Genomes Project. I was asked to take up a role part time as Head of Engagement.
Many people said the project was impossible but on December 5th 2018, Genomics England sequenced the 100,000th genome.
The 100,000 Genomes Project has been people powered.
More than 70,000 people – families affected by rare disease, people with cancer – agreed to gift their genome sequences, along with their health data to the project.
Those with cancer knew that the project would not be able to return their results in time to help them with their own treatment. But they still did it. Families who had been through unimaginably painful years of searching for a diagnosis for an unknown condition hoped they might get an answer. The odds were still stacked against the project helping. But they still did it.
Those who started with us at the beginning of the project had the toughest journey of all. They were the real genome pioneers for their sequences helped us build up the service. At first it was incredibly slow. We made mistakes as we worked out how to configure and scale the service. We had to fail fast and try again. Getting reliable DNA from cancer biopsies turned out to be incredibly difficult and we had to call a halt to that part of the programme for the best part of a year. Informatics and data collection were incredibly challenging
Still, they all stuck with us.
We had always been determined to run this project with its participants. We saw that as central to trust and confidence, for your DNA and health data are precious things.
We set up a Participant Panel – entry criteria ‘if your genome is in it, you can be on it’ – chaired initially by Ed Sherley-Price and then by Jillian Hastings Ward. Some 30 participants are involved, and their lived experience changed what we did. They gently but firmly put us on the right road.
And having people whose genome is in the project involved in who gets access to the data has always been a key part of our mission.
Now we have 100,000 genomes sequenced and more than 80,000 of them are already in our dataset with all their accompanying health data. What matters most to our participants is that their sequences are used – by researchers from universities but also by those from industry because they know that’s where new medicines and treatments will come from.
Around half of cancer patients have so called ‘actionable’ information in their cancer’s genome that will guide treatment or make trials available to them. Around 25% of rare disease patients and up to 40% in some conditions are getting a diagnosis.
It’s a beginning. The hard work really starts now, as we try and find causes for those without diagnosis through the teams of researchers in our clinical interpretation partnerships (GeCIPS)
The year the project began – 2013 – seems a lifetime away. At the time, no-one had sequenced 100,000 genomes. It was at the cutting edge of science. And certainly no-one anywhere in the world had attempted health system transformation alongside genome research. Many people told us that what we were doing was impossible. And were there secret moments when we thought they might be right? A few. But now we’ve got there.
Thousands of professionals have played their part. But it’s the people who gifted their genomes that are the real pioneers of this project. We salute them all.