Interview with John Mattick of Genomics England

John Mattick was recently appointed Chief Executive of Genomics England. He was previously the Director of the Garvan Institute of Medical Research in Sydney, where he established one of the first clinically accredited genome analysis enterprises. He was the Foundation Director of the Australian Genome Research Facility and the Institute for Molecular Bioscience at the University of Queensland. He is well known for his work showing that the majority of the human genome is not junk but specifies an RNA-based regulatory system that organizes the epigenetic trajectories of development. Read his full bio.

Interview with John Mattick of Genomics England

Q: Earlier this year you joined Genomics England as the inaugural CEO. What were the reasons behind your decision to take up this position?

A: Genomics England is at the vanguard of the introduction of genomic information into healthcare. For a long time I have believed that genomics will revolutionize both medical research and medicine: the clinic and the research endeavor will fuse – millions of high-resolution genetic data (genome sequences) intersected with clinical records and other data from smart devices will create a multi-dimensional information ecology that can be mined from any perspective, transforming our understanding of human biology, especially with respect to the brain. Having studied the human genome for many years – especially the underappreciated non-protein-coding majority – it is satisfying to be part of converting genomic knowledge into a better life for those who funded it, the people.

Q: What do you see as some of the most exhilarating tasks that expect to be involved in over the next few years at Genomics England?

A: The most exhilarating task is development of the strategy for introducing genomic analysis into routine healthcare. Towards this end, following the successful completion of the 100,000 genomes project, the UK government recently announced that it will sequence a minimum of 1 million genomes, with an aspirational target of 5 million genomes, over the next 5 years. That is almost 10% of the nation, an important milestone towards the vision of having genomic data as a fundamental platform for precision and personalized medicine, nationwide.

Q: Large-scale programs, like the 100,000 Genomes Projects, have been put in place to further advance precision medicine. Within these programs, what are some of the key components that will change and drive the success of precision medicine?

A: The most important component is the evolution of genetic analysis from its roots in diagnostic services, to the routine use of genomic information both diagnostically and prognostically at the point-of-care, mainly by general practitioners (and their patients / clients), which is where most of the value will be realized. The prognostic information will include identification of incipient genetic disorders such as hemochromatosis, familial hypercholesterinemia and dysfunctional cardiac genes, avoidance of adverse drug reactions and drug underdosing, cancer risk etc. This will require holistic genome interpretation software and portals for convenient delivery of relevant information to physicians.

Q: Earlier this year the 100K Genomes Project reached the 70,000 genome sequence mark. What are some of the highlights (and learnings) that you can share with us in relation to this major milestone?

A: It has been a big mountain to climb. In partnership with the National Health Service we have had to develop new pathways for sample flow, including fresh frozen cancer biopsies. We have had to design new genomic test ordering portals and pathways for analysis of genomic data at scale.

Q: What are some of the biggest challenges the Genomes Project is facing today and how do you plan to overcome them?

A: The biggest challenge at present is the cost of genome sequencing. Like everyone, we are encouraging technological innovation and competition to bring the price down to where there is no longer any impediment to whole genome sequencing replacing gene, panel and exome tests, which have little strategic value.

Q: The integration of clinical genomics with other clinical and/or patient related data has been notoriously slow over the past years, though we detect a positive trend towards a change. By when can we expect full integration and adoption of genomics in the clinic? What needs to change to see full adoption?

A: A more active engagement with the holders of the data. I think the solution will come from direct interaction with patients.

Q: Is there anything else you would like to share with the PMWC audience?

A: I think the future of healthcare will be invented outside of the current system of attention at the point of crisis. This will create huge challenges for health providers and payers, both public and private.