Original article by Shannon Gunn, November 2021. Updated by Kira Newbon, August 2023.
Home to some of the greatest landmarks, gourmet food and wine, the backdrop to several incredible musicals, and of course, everyone’s favourite, cheese – for the latest World of Genomics, we head over to France.
While genetic studies exploring the French population have lagged behind, in 2016 France joined the UK and other international groups by launching a large-genome sequencing operation for healthcare. This ongoing project will set the stage for precision medicine in France.
The population of France
France, officially the French Republic, is a transcontinental country. It spans Western Europe and overseas regions and territories located in South America and in the Atlantic, Pacific and Indian Oceans. In ancient times, France was part of the Celtic territory known as Gaul. Then, in 51 BC, Rome annexed the area, which led to a distinct Gallo-Roman culture. This laid the foundation of the French language. Since the 17th century, France has played a key role in European and world events. In the 20th century, France experienced several crises, including two world wars, as well as other internal political and social turmoil. Since the end of World War II, France has become an ethnically diverse country. It has also become an important world supplier of agricultural and industrial products. France performs well in international rankings of education, healthcare, life expectancy and human development.
Figure 1 | Map of France. Source: Canva.
Geographic and demographic information
- Land area: 640,679 km2
- Gross domestic product (GDP):
- Total: $2.78 trillion (2022)
- Per capita: $40,964 (2022)
- Population size: 64,756,584 (2023)
- Birth rate: 10.914 per 1000 people (2023)
- Death rate: 9.510 per 1000 people (2023)
- Infant mortality rate: 2.677 per 1000 live births (2023)
- Average life expectancy: 83.13 years (2023)
- Male: 79.4 (2022)
- Female: 85.3 (2022)
France is considered to have one of the best healthcare systems in the world. In 2020, France spent 12.21% of GDP on healthcare. This is higher than the average spent by high-income countries.
The French healthcare system covers both public and private hospitals, doctors and other medical specialists. This is provided to every resident in France, regardless of age, income or status, making it highly accessible. Residents are covered through mandatory health insurance contributions. Individuals who want additional coverage can opt for private insurance. Government-funded agencies cover more than 75% of health expenditures in France.
Despite the achievement of universal coverage, there are still striking disparities in the geographic distribution of health resources as well as inequalities in health outcomes by social class. Like other European countries, France faces similar structural challenges alongside the increasing demands of an ageing population and rising costs, particularly for new therapies. There is also a serious lack of investment in preventative healthcare in France. France has been slower than other counties in adopting new digital technologies and data-driven approaches. Although the system has its pitfalls, its indicators of health status and consumer satisfaction are high.
Cancer is the leading cause of death in France. In 2014, it accounted for 28.5% of all deaths. Lung cancer continues to be the main cause of cancer death, which reflects the long-term consequences of high smoking rates. This is followed by cardiovascular diseases, which accounted for 25% of all deaths in 2014. The numbers of deaths due to Alzheimer’s disease and other dementias has increased rapidly since 2000, due to the ageing population and lack of effective treatments.
Musculoskeletal disorders (including low back and neck pain) and mental health disorders are also some of the leading determinants of disability-adjusted life years (DALYs).
Unhealthy lifestyles in France account for one quarter of the overall burden of disease. Although it has declined since 2000, one in four adults in France still smoke daily, making it the fourth highest in daily smoking rate among OECD countries. Alcohol is the leading cause of death and disability, with consumption in France being the third highest among OECD countries. Another growing public health issue is overweight and obesity problems among children and adults. About half of adults and one third of children are overweight or obese. Antibiotic prescriptions in primary care are also over 25% higher than the OECD average.
Among very young people, France has much lower vaccination rate than other EU countries. This is the case for both compulsory and recommended vaccines.
In 2018, the French Ministry of Solidarity and Health released a new National Health Strategy for 2018–2022. The strategy outlines four priority areas: 1) promoting health and prevention across all life stages, 2) tackling social inequalities in health and access to care, 3) ensuring the quality, safety, and relevance of care and 4) identifying innovative approaches to transform the healthcare system.
Genomic medicine capabilities
The field of genetics got off to a difficult start in France. Mendelism, as was the case with Natural Selection and Darwinism, was slow to be accepted. Genetics was not commonly taught in universities up to the 1950s. Genetics emerged after World War II, which can partly be attributed to a group of molecular biologists in Paris, including Nobel Prize winners André Lwoff, Jacques Monod and François Jacob. In addition, a number of influential medical workers, most notably Robert Debré and Maurice Lamy, recognised that genetic conditions were the next major challenge after seeing a decline in infectious and nutritional causes of child mortality. They realised that to overcome these, genetic research would be essential.
Prenatal diagnosis was developed early in France by a husband-and-wife team, André and Joelle Boué. It was first introduced in France in the 1970s. The French Association for Neonatal Screening was created in 1975. In France, five diseases are currently tested for in the newborn screening programme, including phenylketonuria, congenital adrenal hyperplasia, congenital hypothyroidism, sickle cell disease and cystic fibrosis.
In 2015, France released a new report, France Médecine Génomique 2025, which sets out proposals for an investment of €670 million over the first five years of the new ‘French Genome Project’. The report sets out a vision to consolidate France as a leader in the field of precision medicine by establishing a network of centres for rapid, high-throughput genome sequencing. One of the project’s ambitions was to process 235,000 genomes annually by 2020. This includes transcriptome, exome and whole genome sequences. Overall, this effort aims to prepare France for integrating genomic medicine into clinical care and to set up a national genomic medicine framework that will help drive scientific and technological innovation.
DNA testing has been banned in France since 1994. According to the French bioethics law, it is only allowed for medical, scientific or judicial purposes. France remains the last country in Europe where DNA testing is still illegal. Some of the reasons for this ban include uncertainty surrounding the privacy and confidentiality of data, particularly in relation to commercial companies. Other concerns include misuse for paternity testing or a risk of drifting towards eugenics.
The genetic counselling profession in France was recognised in 2004. Now, over 100 individuals have graduated from the specific educational program for genetic counselling. Unlike most other European countries, there is a specific governing legal framework for genetic counsellors in France.
France is striving to create a national network of molecular genetics laboratories, clinical cancer genetics centres and inter-regional sequencing platforms.
- France Genomic Medicine Plan 2015 (PFMG2025): In 2015, France released a report that outlined the intent to integrate sequencing into the healthcare pathway and to set up a national genomic medicine framework. There are currently 8 research projects related to PFMG2025 listed on their website.
- Population Genomic Diversity of France (POPGEN): Having begun in early 2021, POPGEN will select 10,000 individuals from the CONSTANCES cohort with ancestry in different regions of France (outside of the western part) to provide references for the population of France.
- French Regional Origins in Genetics for Health (FROGH): The FROGH project aims to provide novel tools to explore links between demography, genetics, history and variant distribution in France.
- The Human Genome Diversity Project (HGDP): Having started in the 1990s, the HGDP created a comprehensive resource of genetic variation from underrepresented human populations. France is one of the 51 populations included in the study.
- The Genetic History of France: In 2019 a population genetics study revealed, for the first time, how population genetic clusters correlated with linguistic and historical divisions in France, as well as with the presence of geographic barriers. (Pierre at al, 2021)
Scientists from France were also involved in the Human Genome Project.
Notable organisations and companies
- France Génomique: A national infrastructure in biology and health. The main objective is to keep France at the forefront of genomics, both in the use of technology and in the development of new applications for these technologies.
- Centre National de Recherche en Génomique Humaine: The CNRGH is the French national research centre that answers scientific questions through high throughput sequencing and genotyping.
- Institut de Génétique Humaine: IGH is a research unit dedicated to fundamental research in genome dynamics, developmental genetics, epigenetics, and molecular and cellular pathology, as well as the study of pathologies.
- Genoscope: Created in 1996, The French National Sequencing Center (Genoscope) has been involved in the sequencing of the human genome. It is currently working on environmental genomics.
- Depxius: A fast-growing innovative biotech company that develops technology for the fast, accurate and inexpensive extraction of genetic and epigenetic information from single molecules of DNA and RNA.
- GenSight Biologics: A clinical-stage biotechnology company that develops gene therapy-based treatments for retinal neurodegenerative diseases.
- DNA Script: A leading DNA synthesis company that aims to use engineering biology to accelerate breakthroughs in life science and human health.
- Institut Curie: One of the leading medical, biological and biophysical research centres in the world. It was founded by Marie Curie in 1920 and operates a research centre on biophysics, cell biology and oncology and a hospital specialised in cancer treatment.
- Pasteur Institute: A private, non-profit foundation founded in 1887 with four core missions of public interest – research, education, the health of populations and people, and innovation development and technology transfer.
Below, are just some of the notable researchers and scientists who have made significant contributions to the fields of genetics and genomics.
- Pierre Chambon (1931-): Chambon is one of the leading molecular biologists who used gene cloning and sequencing technology to decipher the structure of eukaryotic genes and their modes of regulation. He was involved in the identification of RNA polymerase II (B), the identification of transcriptional control elements, and the cloning and dissection of nuclear hormone receptors.
- Jean-Loup Huret (1951-): Huret is a French scientist and medical practitioner. He discovered the first case of Down syndrome with a normal karyotype.
- François Jacob (1920-2013): Jacob was a French biologist who originated the idea that control of enzyme levels in all cells occurs through the regulation of transcription. He shared the 1965 Nobel Prize in Medicine with Monod and Lwoff.
- Jacques Lucien Monod (1910-1976): Monod won the Nobel Prize in Medicine in 1965 for his work concerning the genetic control of enzyme and virus synthesis. Alongside Jacob, Monod became famous for his work on the E. coli lac operon.
- Norbert Perrimon (1958-): Perrimon is a geneticist and developmental biologist known for developing several techniques for use in Drosophila.
- Raymond Turpin (1895-1988): Turpin was a French paediatrician and geneticist, who helped discover the chromosomal abnormality, trisomy 21, responsible for Down syndrome.
- Eric Vilain (1966-): Vilain is a physician-scientist who is considered a world expert on the genetic determinants of disorders/differences for sex developments (DSDs).
- Jean Weissenbach (1946-): Weissenbach is a French biologist and the director of Genoscope from 1997 to 2015. He is also considered a pioneer of sequencing and genome analysis.
- Bernard Dujon (1947-): Dujon is a French geneticist whose scientific work focuses on the genetic material of eukaryotic organisms, its organisation, dynamics, functioning and evolution. The majority of his work has used the yeast Saccharomyces cerevisiae.
Genomic medicine is a fast-growing industrial opportunity that has medical, scientific and economic value. With an annual capacity for just 20,000 exomes and 10,000 genomes, France currently lags behind countries, like the USA and UK, that can do several tens of thousands of runs per year. Nonetheless, the French Plan for Genomic Medicine 2025 represents a great opportunity for France to position itself among the countries leading the way in precision medicine. While the initial focus centres on cancer, diabetes and rare diseases, it is expected that the effort will eventually open up to common diseases as well.
Since the implementation of PFMG2025, the country has made good progress in the field, with current research being conducted on topics including:
- Identification and validation of new genes and mutations in neuromuscular diseases.
- Precision medicine and immunotherapy of sarcomas.
- Re-analysis of spastic ataxias/paraparesis in genomes.
France successfully adhered to the European initiative One Million Genomes in close connection with the France Genomic Medicine Plan 2025
Although not unique to France, multidisciplinary research is critical to prepare the field of genomic medicine as it become increasingly accessible to the French population. Another challenge is the fact that France has yet to adopt a specific legal framework regarding valid consent to genomic testing. The current bioethics law applies to genomic testing, which means that consent can only be given in the context of symptomatic patients or asymptomatic patients where there is a predisposition or high susceptibility. However, in research, it is possible for researchers to return valuable incidental findings.
In September 2023, the 9th Congress of the French Society of Predictive and Personalized Medicine (SFMPP) will be held in Paris. Events such as these are imperative to the advancement of genomic medicine.
Like many countries across the world, France is experiencing a genomic medicine revolution. Continued effort in this field will enable France to stay internationally competitive and respond to various challenges presented by modern day healthcare.
- Harper PS. Some pioneers of European human genetics. European Journal of Human Genetics. 2017 May 10:1-8.
- Saint Pierre A, Giemza J, Alves I, Karakachoff M, Gaudin M, Amouyel P, Dartigues JF, Tzourio C, Monteil M, Galan P, Hercberg S. The genetic history of France. European Journal of Human Genetics. 2020 Jul;28(7):853-65.
- Lethimonnier F, Levy Y. Genomic medicine France 2025. Annals of Oncology. 2018 Apr 1;29(4):783-4.
- Lejeune C, Amado IF. Valuing genetic and genomic testing in France: current challenges and latest evidence. Journal of Community Genetics. 2021 Jan 16:1-9.
- Smetana, J. and Brož, P. (2022). National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review. Genes, 13(3), p.556. doi:https://doi.org/10.3390/genes13030556.