Genomic medicine France 2025 (2018)

The French Plan for Genomic Medicine 2025 was commissioned by Prime Minister Manuel Valls in 2015 and developed by Aviesan (the French National Alliance for Life Sciences and Health) in 2016. It aims to position France as an international leader in personalized and precision medicine, fully integrating genomic medicine into healthcare pathways and establishing a national genomic medicine industry that promotes innovation and economic growth. Of the €670M invested in the first 5 years, around €230M will come from industry. The plan is based on 14 operating measures, linking health care, research and industry. Genome sequencing will be performed by 12 ultra-high-throughput services covering the whole country, two of which being launched in 2018. A national data analysis facility (Collecteur analyseur de données, CAD) will interpret and store data and interface with other national and international databases. A Reference Center for Innovation, Assessment and Transfer (Centre de référence, d’innovation, d’expertise et de transfert, CRefIX), based at academic centers of excellence, is developing the procedures, tools and technologies to be deployed at the sequencing centers and CAD and will also be responsible for implementation, commissioning and workforce training. The CrefiX is already operational and has allowed the implementation of the first clinical projects such as pilot cohorts in rare disease, cancer, common disease (diabetes). Moreover, a population cohort will be used in 2016–2018 to test technological, clinical and regulatory barriers. Globally, about 10 000 individuals will be recruited in clinical centers as part of these pilot projects. It is anticipated that France will be capable of sequencing 235 000 genomes per year by 2020, corresponding to 20 000 patients with rare diseases together with their families, and 50 000 high-priority patients with metastatic cancer or cancer refractory to treatment. The ‘French Model’ proposed here is a mixed one involving care and research issues, in line with our health care system, its link with research, the economic model of diagnostic procedures and the need to set up a process for integrating scientific advances. This plan also takes into account, in a concrete way, technological progress from sequencing to the storage and analysis of the resultant big data as well as confidential reporting back to doctors and patients. The strong international competition in the field of genomic medicine is explained by the challenges it raises. First and foremost, it is a public health issue. Genomic medicine is revolutionizing the care pathway and therefore how the public health system is organized. A large number of patients with rare diseases or cancer will benefit from routine sequencing of their genomes with more personalized diagnosis and treatment. Great progress has already been made with more common diseases (metabolic, cardiovascular, neurological, etc.) through genome sequencing, above and beyond identification of the usual susceptibility-conferring genes. With time and expansion to cover novel clinically validated indications, all patients will eventually benefit from improved care. To achieve this, the challenge is also scientific and clinical. This will involve reinforcing the chain going from the molecular investigation of disease to therapeutic benefit to patients via the assembly and matching of multiple heterogeneous databases, such as biological data, clinical data or even environmental information. And the technological challenge is no less pressing: information and communication sciences and technologies are called on to converge with the life sciences and health care information. The capacity to acquire, store, distribute, match and interpret such big data from diverse sources is at the heart of said convergence. It represents a genuine focus of excellence in calculation science and biological data that will emerge. In addition to servers, cores and intensive calculation methods, the development of software for data mining and modelling will make it possible to meet the challenge of genomic medicine and, more broadly, personalized medicine. Finally and pre-eminently, the challenge is an economic one, both in terms of expenditure by our health care system and also the chance to develop new industrial infrastructure. On the one hand, innovation in health care and quality of life is one of the drivers of growth in developed countries. And on the other hand, genomic medicine is more precise meaning savings on health care due to fewer inappropriate, inaccurate and extensive examinations, faster turnover times, less prescription of useless drugs, fewer debilitating adverse reactions and gains in years of life. To meet these challenges, we have proposed a transformative, 10-year Plan. The aim is to capitalize on the specificities of our health care system and bring yet more closely together care, research, training and innovation in the service of health care and quality of life. To overcome the technological and clinical obstacles and to address the regulatory framework encountered along the clinical pathway, we have proposed four pilot projects on cancer (2400 patients with soft-tissue sarcoma or colon cancer), rare diseases, common diseases and a sample of the general population. Three targets structure the Plan. The first is to position France among the countries leading the way in personalized and precision medicine with export of the expertise derived from the French medical and industrial genomic medicine system. Our second target is to prepare for integration of genomic medicine into the care pathway and the management of common diseases. The third target for 2025 is to set up a national genomic medicine framework capable of driving scientific and technological innovation. Finally, the ethical dimension is an integral part of the Plan. It will not be possible to develop personalized genomic medicine without at the same time providing answers to the numerous questions being asked by citizens and patient support groups: on information and consent, on the proper use of health data, on the anonymization of data vis-à-vis third parties, on the communication of how secondary discoveries and unwanted incidents inevitable when the entire genomes of patients and their family members are sequenced. None declared.