4 July 2016
France has revealed plans to establish a major genome sequencing project for integrated provision of genomic tests and analyses within healthcare systems.
The report France Médecine Génomique 2025, produced by the National Alliance for Life Sciences and Health (Aviesan) for the French government, sets out an ambitious vision for rapid delivery of national genome sequencing capacity sufficient to deliver 235,000 genomes a year by 2020.
Aviesan, an alliance of stakeholders in biomedical research and healthcare applications, was asked for plans to make genomic medicine available to French citizens by 2025. The French government has formally endorsed these plans in a statement that says they will allow France to maintain a leading global profile in personalised medicine and deliver better genomic diagnostics and patient care.
The price-tag for the French project is estimated to be a whopping €670 million, plus a further €230 million from the commercial sector. France has taken careful note of the Genomics England model for the 100,000 Genomes Project (100KGP), an essential component of which was an agreement with sequencing giant Illumina, producer of the world-class Hi-Seq X-10 machines that power the new £27 million sequencing centre (itself funded by leading biomedical research charity the Wellcome Trust).
This new facility near Cambridge was needed to churn out the enormous volume of genome sequences required for the project, and provide the necessary efficiency to render it economically viable. Genomics England is paying £78 million for the sequencing provided by Illumina, which is in turn providing investments of £162 million for the country over the course of the project, as well as playing a central role in an international initiative intended to lay the groundwork for a genomic medicine service for the whole National Health Service (NHS). UK government investment in the project also includes a further £24 million via the Medical Research Council and £20 million via NHS England, with a total value in excess of £300 million.
Even without the recent fall in the value of Sterling against the Euro, the planned French financial provision is relatively lavish compared with the English totals, but the new report takes careful note of the partnership between the NHS, academic and industrial research partners, and actively recommends contact with Geno mics England to learn from their experience developing standards with Illumina. France is also interested in the relationships between Genomics England and the other companies who will provide data management and analytics services to the genome project. Like England, France hopes the project will stimulate widespread economic growth, as well as improve healthcare.
The French project is no carbon-copy of its English counterpart, however. They propose a significantly different structure, with not one but twelve different sequencing centres. These might not be as efficient as a single central facility, but there is considerably less risk that any one event could even temporarily halt the project; Cambridgeshire is not famed for civil unrest, natural disasters or terrorist attacks, but a single facility could nevertheless be a weakness, as well as a strength. Conversely, whereas the English model includes thirteen (and potentially more) Genomic Medicine Centres as sites of professional expertise in clinical genome analysis and interpretation, the French plan proposes just two. They also stress the potential value of genomic analysis to inform the development of better care for common, complex diseases, and state that the first patients to receive genome sequencing will be not only those with rare diseases and cancer, but also diabetes.
It is not surprising that the immediate aims of both projects are the ‘low-hanging fruit’ of better diagnostic analysis for rare disease and cancer patients; it would be more surprising if they were not. Infectious diseases are not mentioned in the French report, whereas they merit occasional attention in the English project. They were highlighted as one of the areas where genome sequencing technologies could most rapidly benefit healthcare in the 2012 strategic vision Building on our inheritance: genomic technology in healthcare, and were initially to form part of the 100KGP. They then disappeared from view for a while, which Genomics England now says is because of ‘robust scientific advice and clinical evidence’ that led to the selection of just rare diseases and cancers for the main programme.
Whilst there is good sense in the subsequent decision to devolve responsibility for the development of infectious disease genomics services to Public Health England, sadly the current lack of strategic leadership in this area (as outlined in the PHG Foundation report Pathogen Genomics into Practice) is delaying the benefits of existing expertise in this area for patients and the public in England. Incorporation with the vision of integrated genomic services that is the ultimate aim of the 100,000 Genomes Project would have led the necessary dynamism to drive this forward; perhaps France may wish to take the opportunity to direct a modest proportion of their own funding allocation towards rapid success in infectious disease genomics.
Ultimately, the key comparator between the two projects and other international ventures will be how rapidly and successfully they are able to make the move from massive research endeavours to routine clinical services. Both elements are vital steps towards personalised medicine, but since the full benefits of the research lie far in the future, ensuring that the early benefits reach patients as soon as possible is important. One commentary claims that only the French project is firmly focused on healthcare integration whereas international counterparts such as the US Precision Medicine Initiative and the 100KGP are primarily research projects; hopefully the English example will rapidly prove this view incorrect.