lunes, 2 de diciembre de 2013

Sir John Chisholm… on the progress Genomics England has made since its launch on July 5 | Genomics England

Sir John Chisholm… on the progress Genomics England has made since its launch on July 5 | Genomics England

Sir John Chisholm… on the progress Genomics England has made since its launch on July 5

Sir John ChisholmThere is already a lot of excitement and good will about Genomics England Ltd (GeL) and its 100K Genome Project, as witnessed by our ‘Town Hall’ engagement events, which I chaired in early October at St Barts Hospital. It was great to have such an excellent line-up of speakers and to have been joined by many hundreds of people through the internet, some of whom sent in their questions that we were able to answer at the event itself. You can view the video of the whole event.
Many who attended the ‘Town Hall’ events left us questions and we have replied individually to each one. There are already common themes coming through from these questions. From the public and patients, there is a desire to find out how to sign up and contribute DNA to the programme. Those who have a particular disease, or work for a charity that provides support for people who do, want to know what the programme might be able to offer them in the future. We have also had a lot of questions about our management of data and the likely impact that our programme will have on frontline NHS services. See an anonymised summary of questions and responses here.
I am very pleased to announce the excellent team that is being brought together by GeL to deliver the programme. Prof Mike Parker, an international expert in medical ethics from the University of Oxford, is leading this area of work for us – you can read his first blog post here.
Prof Jim Davies, professor of computer science at the University of Oxford, has taken on the role of chief technology officer, and he has written his first blog entry exploring the challenges of ‘big data’ for GeL.
Prof Mark Caulfield, Director of the William Harvey Research Institute, is our lead scientist and he has also published his first blog post, exploring the impact of the programme on the NHS.
And Mark Palin, who leads on outreach and communications for GeL, reflects on the recent launch of the Personal Genome Project in the UK. To read his blog, click here.
Our programme is to sequence 100,000 whole genomes by 2017, so it is pleasing to able to announce that we already begun work. Our first initiative is with Cancer Research UK, to sequence a total of 3,000 cancer patients, who have one of three common cancers (lung, bowel and breast) and to sequence the DNA of their cancer. The second initiative is with the University of Cambridge, to undertake 2,000 whole genomes of patients with a rare inherited disease and both of their biological parents or an immediate family member. The results of these pilots are expected to be known by the end of next year. More details on these two areas of work will be announced in our next Briefing.
We had our first engagement event with companies and experts who want to help us to develop capacity in the UK for sequencing of the whole human genome. Our programme is hugely ambitious and we already know that the UK does not have sufficient capacity or sequencing machines to undertake the level of sequencing that we want, particularly once our main programme begins in earnest in early 2015. The Prime Minister has made it clear that the UK should both be at the forefront of discovering the benefits of WGS, and should use that as an opportunity to bring investment to the UK that will build our capacity. If you would like to see the videos of our event for sequences and annotators, please click here.
Finally, we saw the launch this month of the Personal Genome Project (PGPUK), a completely separate project from Genomics England but one that has caused a lot of interest. I issued a statement to the media, welcoming the PGPUK initiative and making clear the differences between us and them. Some of my statement appeared on the BBC website the day after the launch.
We do hope you find the information in this first Briefing of interest. As ever, we like to hear from you and will reply to your questions as soon as we can, so do send us your comments and questions.
Sir John Chisholm
Executive Chairman

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