25 September 2014
The promise of whole genome sequencing to transform healthcare has been much vaunted and underpins initiatives such as the UK’s 100,000 Genomes Project, in which hundreds of millions of pounds are being invested. However, substantial funding is not enough to deliver the promised transformation; various warning notes have been sounded in recent weeks.
Life Sciences Minister George Freeman has recently said that: "There are a number of areas where the UK and NHS is pioneering but EU regulation is in danger of holding back biomedical advances: in regenerative medicine, stem cells, genetics and data". He fears that European directives risk making Europe an ‘increasingly unattractive’ place for science and medicine, a potential ‘disaster for Britain and NHS patients’.
The General Data Protection Regulation is singled out as an area of particular concern, along with proposed reforms to the Clinical Trials Directive and Council of Europe opposition to the UK’s plans to legalise mitochondrial transfer techniques. The proposed data protection reforms – including an individual’s right to know every time their medical records are accessed - could represent a serious barrier to research, and impede the UK’s plans to create a unique research resource with linked medical and genome sequence data.
Large scale or ‘big’ data as typified by genome sequence information is increasingly underpinning medical discovery and development, with the country’s first shared data hub for academic and medical research opening this month; the Jisc centre will serve selected universities along with the Wellcome Trust Sanger Centre near Cambridge and the biomedical Francis Crick Institute currently being built in London.
The challenges go beyond merely housing and interrogating data, however. Francis De Souza, president of major DNA sequencing company Illumina (an official partner in the 100,000 Genomes Project) has commented that whilst the clinical application of genome sequencing is set to expand rapidly, the rapid fall in costs seen over recent years is not likely to continue. Rather, he observes that interpretation is the new barrier to implementation: “The bottleneck now is not the cost—it’s going from a sample to an answer”.
Several of the PHG Foundation’s current projects are focused on addressing some of the key barriers and bottlenecks to using genomic and biomedical science to improve health.