20 December 2016
The Garvan Institute of Medical Research was pleased to host Sir John Chisholm FREng CEng FIEE onsite in November. Sir John was previously Chair of the UK’s Medical Research Council and is now the Executive Chairman of Genomics England (@GenomicsEngland), the organisation charged with implementing the UK’s 100,000 Genomes Project.
An accomplished industrialist in the field of software development, Sir John shared his insights on the implementation of large-scale human genomics projects, and on how the rise of clinical genomics in the UK is impacting on healthcare and on the economy.
Sir John described how, as an engineer, he realised the value of computational approaches to avionics, and its lessons for healthcare. He also discussed how the 100,000 Genomes Project came to pass through the leadership of the UK’s then-Prime Minister David Cameron, and how Genomics England is meeting key challenges in implementing the Project.
Sir John also explained the reasoning behind capturing 100,000 whole genome sequences in the 100,000 Genomes Project, rather than more targeted approaches such as sequencing ‘exomes’ (the small subset of the genome that provides instructions for making proteins).
He said, “What we’re trying to do in Genomics England is to industrialise genomics for a whole nation. So you have an industrial pipeline working which produces everything [entire genome sequences] and then you can just select from that with software – the panels you need, the exomes, whatever you like. That, in our view, is ultimately what will be a more cost-effective approach.
“It’s a pity to do 100,000 [genomes using a targeted approach only] and then say to yourself, ‘Oh, I wish we’d captured the regulatory areas [of the genome] because then we’d know a lot more!’ So it was the right decision, I believe [and] it’s become over time, more the right decision.”
“Sequencing 100,000 genomes has never been undertaken before in a national healthcare setting. There are challenges, but we are overcoming them. And we are beginning to see the benefits it can bring. Firstly and most importantly for patients. Some have a diagnosis where there wasn’t one before. In some cases treatment can be recommended based on a person’s results. Lives are being changed. We’re also building infrastructure for the future - systems to collect, analyse and store huge amounts of data. We’re driving forward research and development to implement genomic medicine in the UK.
I was delighted to visit Garvan to share our progress and advance genomic medicine in the UK and Australia.”
Sir John’s insights are captured in a series of short video clips entitled ‘In Conversation with Sir John Chisholm’.
Garvan’s Executive Director, Professor John Mattick AO, says that he hopes Australia will take a similar approach to Genomics England to the implementation of genomic and precision medicine, which will transform healthcare and the economy in the years ahead. He also hopes that Australia and the UK may be able to work cooperatively in this endeavour, and with other nations such as New Zealand, Canada, Singapore, Japan and India.
“The 100,000 Genomes Project is an excellent example of the role of government in accelerating major opportunities and transitions in research and innovation. Having Sir John here at Garvan was a privilege and a pleasure. It was valuable to discuss progress towards mutual goals and to share perspectives and experiences of how to best realise the enormous potential of genomics.”
Garvan and Genomics England signed a memorandum of understanding in September 2015, with the aim of advancing genomic medicine in Australia and the UK. The two organisations agreed to work together to make genomic information more accessible, meaningful and usable.
The memorandum of understanding focuses in particular on the development of advanced analytical software that can make clinical records machine-readable, and on the integration of clinical records with genomic data – both for biomedical discovery and for the improvement of the quality and efficiency of the healthcare system.