The PERIGENOMED project

• Recent therapeutic innovations offer the opportunity to improve the health and quality of life of children with early-onset rare diseases. 
• The development of next-generation genomic sequencing technologies over the last two decades, with the recent launch of new ultra-high-throughput sequencers. These new tools make it possible to screen for hundreds of rare diseases using a single biological test. 
• Following these innovations, the 2021 revision of the bioethics laws approves the use of first-line genetic testing for NBS. 

Given the ever-accelerating pace of therapeutic advances in rare diseases, adding new treatable diseases to the NBS on an individual basis will no longer be an efficient model in the future. It is therefore becoming essential to consider the use of new technologies that can easily increase the number of rare diseases screened, in line with these therapeutic advances. The new technologies for genome-wide high-throughput sequencing appear to be a highly suitable option, given their rapid progression. 

A number of countries are currently considering the use of genome-wide analyses for NBS. These countries have formed a consortium of international scientific experts (ICoNS), which is working to integrate genomic innovation into NBS, by promoting the sharing of knowledge and experience. 

In 2013, the Fédération Hospitalo-Universitaire (FHU) TRANSLAD (link to Home - Translad) was established. It was the first hospital federation dedicated to genomic medicine in France. Translad was a national pioneer in setting up projects involving genomic innovation in healthcare, particularly in emergency contexts (intensive care and pregnancy). In 2020, in conjunction with the Société Française de Dépistage Néonatal (SFDN), it launched the SeDeN project, focusing on the social acceptability of extending NBS to include genomic sequencing technologies. The highly positive feedback from professionals and parents support the development of this project. It is thus essential to move towards the extension of NBS through genome-wide high-speed sequencing in France.

The aim of the PERIGENOMED project is twofold: to make NBS an essential tool for diagnosing early-onset rare diseases, and to contribute to the development of a network of diagnostic and therapeutic innovations around these diseases.

PERIGENOMED is designed as a public health project that will study the analytical validity, performance, clinical utility and social, regulatory, economic and ethical issues of extending NBS in France to include genomics. The aim is to screen for several hundred rare diseases for which early diagnosis provides an advantage (treatment in the presymptomatic phase, access to innovative therapies, early adapted care leading to improved clinical prognosis and quality of life, etc.), while taking into account organizational, social, regulatory, economic and ethical issues.

PERIGENOMED will include two clinical trials. 

PERIGENOMED CLINICS 1 aims to develop tools that will enable genomic NBS results to be returned to parents in less than 3 weeks, while analyzing the acceptability of such screening in real-life situations. From March to December 2025, 2,500 newborns will undergo genomic NBS in five university hospitals in the FHU TRANSLAD (Dijon, Besançon) and FHU GenOMeds (refer to the FHU GENOMEDS Maladies Rares et Omiques website (fhu-genomeds.fr) (Rennes, Nantes and Angers) networks. This first phase will enable us to gauge parents' expectations, collaboratively create the materials for informing the public, and set up two genomic sequencing centers. This is the subject of a public-private-associative partnership worth around 2 million euros involving the FHU TRANSLAD (CHU Dijon, CHRU Besançon), the FHU GenOMeds (CHU Nantes, CHU Rennes, CHU Angers), the AFM-Téléthon, academic teams (University of Burgundy), the Illumina company, and certain pharmaceutical groups (Kyowa-Kirin and Egetis). Two lists of diseases will be used: list 1 of treatable pediatric diseases, and optional list 2 of actionable diseases. These lists have been drawn up using the expertise of the national rare disease health networks. 

PERIGENOMED CLINICS 2 aims to evaluate the clinical utility, performance, relevance and economic sustainability of genomic NBS, as well as the conditions for its transferability on a national scale. Phase 2 is due to be launched in 2026 on the model of a prefiguration, and will include 25,000 newborns from all maternity units in the Bourgogne-Franche-Comté region, with the possibility of opening this phase to a second region. Patients will be monitored until 2031. Its budget is estimated at over 16 million euros. The challenge will also be to further analyze the associated ethical, regulatory, psychosocial and economic issues, and to raise awareness among healthcare professionals and the general public.

PERIGENOMED is a large-scale, value-creating project: the expected benefits are multiple and complementary, and form part of a global approach to health and prevention. 

PERIGENOMED is being built on a participatory approach, in conjunction with a partnership committee comprising all the stakeholders in genomic medicine, NBS and, more broadly, rare diseases in France (healthcare professionals, learned societies, patient associations, rare disease networks, public health and human and social science researchers).

In line with the third national program for rare diseases (3ème Plan National Maladies Rares, PNMR3), the PFMG2025 (Genomic Medicine France 2025) and the upcoming PNMR4, PERIGENOMED is a means of anticipating the future. It will also serve as an accelerator for French industry around genomic medicine, and is fully in line with the aims outlined by the PFMG2025. PERIGENOMED is designed to help France meet its objective of becoming a pioneering force in the field of genomic medicine.