Life is for the Living: The 100,000 Genomes Project

On Thursday we were invited to attend a media event for the '100,000 Genomes Project' at the Sanger Institute in Cambridge. This was because some time ago I had had some genetic testing done and had also given a sample of my DNA for a genetics research study of PAH, which is presently being undertaken by Professor Morrell, Head of the Cambridge Centre of Research Excellence.

This project involves sequencing the entire genomes of 1,000 patients with Pulmonary Arterial Hypertension. They hope to discover the entire inherited basis of PAH and establish the frequency of all known genetic mutations that are responsible for the condition. There is hope from this work that it may be possible to introduce a screening programme that can identify those at risk, provide better information and reassurance for families and also identify new ways to treat the disease.

The '100,000 Genomes Project' is a project backed by the Prime Minister and is being delivered by Genomics England, a company wholly owned by the Department of Health. It has been set up to deliver the sequencing of 100,000 genomes from NHS patients with rare diseases and cancers by 2017. It aims to bring benefit to patients and set up a genomic medicine service for the NHS; to enable new scientific discovery and medical insights and start the development of a UK genomics industry. Genomics England are working in partnership with Illumina, who will deliver the infrastructure and expertise services for whole genome sequencing.

We arrived and were warmly welcomed by the team from Genomics England and we were ushered to the lecture theatre where the project was explained in more depth to us by Sir John Chisholm, Head of Genomics England and the newly appointed Minister for Life Sciences, MP, George Freeman. We were then shown around the research labs and it was explained how the genome sequencing machines work. By this time we had been joined by a television crew, who were filming for all the major news stations.

There were two other patient representatives, who had also been involved with genetic testing for other rare diseases and we were each interviewed about our stories and what genetic testing meant for our families. I explained how we had had our minds put at rest because it had been found that I did not carry the two main gene mutations associated with inherited PAH, which means that it is highly unlikely that Sarah and Rose will develop PAH. I had idiopathic PAH, so I'm always trying to make sense of why I might have got it.

I also explained how giving my DNA sample for the PAH genetic research is still important to me, because the research will hopefully lead to a better understanding of the disease and hopefully better and more focussed treatment for both PAH patients and patients who have PH for secondary reasons. I explained how the PH community had a lot of hope for patients getting an earlier diagnosis through better genetic knowledge; how I hoped future patients would not be faced with having to take intravenous medication or having to make life threatening decisions about whether to undergo transplantation and also how the research may give more hope to those who haven't got the option of transplantation.

We were told the news reports would hopefully be on all the main news channels on Friday, when there would be announcements from 10 Downing St about the '100,000 Genomes Project'. The project was moving into a new phase as contracts were being signed at Downing St that day with Illumina, who are providing the infrastructure and expertise services for the whole genome sequencing process.

We were also invited to 10 Downing St to this event, which is set to revolutionise the future treatment of patients and make the UK's NHS become the first mainstream health service in the world to have genetic medicine as part of patient's routine care.

We put on the main news on Friday morning and didn't really know which one to watch, as the story was running on every channel! We found we were on BBC and Sky main news. Then we had our local radio station trying to interview us and Anglia News! It was busy and telephone signals were bad as we were in London. In the end we managed a telephone interview with the radio.

It was exciting to arrive at number 10, we have never been there before, only on the other side of the railings peeping through! It was wonderful to have been invited to attend.

We were well looked after at both events and were introduced to and chatted to many others attending including: other patient families, Genomics England and Illumina staff, Life Sciences Minister George Freeman, Chief Medical Officer Dame Sally Davies and Sir John Chisholm.

George Freeman, Minister for Life Sciences hosted the event and contracts were signed between Genomics England and Illumina ready to launch the next phase of this exciting project.

We were also lucky enough to have a tour of Downing St too. We weren't allowed to take our mobile phones with us or take photographs, but we had a professional photographer who accompanied the party for the event and therefore we've got some super photographs to mark the occasion.