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Neonatal screening for cystic fibrosis: France rises to the challenge
J P Farriaux1, M Vidailhet, M L Briard
1Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant, Paris, France.
Insights
France has updated its neonatal screening program for cystic fibrosis (CF) using a dual IRT and DNA testing strategy. This ensures early diagnosis and specialized care for newborns with CF.
Area of Science:
- Medical Genetics
- Public Health
- Neonatal Care
Background:
- Neonatal screening programs are crucial for early detection of genetic disorders.
- Cystic Fibrosis (CF) screening requires a robust program to ensure timely diagnosis and care.
- Lessons from a prior pilot study informed the adjustments to the French CF screening program.
Purpose of the Study:
- To describe the adjustments to the French neonatal screening program for cystic fibrosis (CF).
- To outline the legal, statutory, and practical considerations for implementing national CF screening.
- To ensure efficient screening and adequate patient care following diagnosis.
Main Methods:
- A two-tiered strategy combining immunoreactive trypsin (IRT) assay and DNA mutation analysis on dried blood spots.
- Utilizing 30 selected mutations for 85% coverage, accounting for regional genetic heterogeneity.
- Implementing informed consent at birth via parent signature on sampling paper to avoid recall anxiety.
Main Results:
- The program integrates IRT screening with confirmatory DNA analysis for elevated IRT values.
- Establishment of designated CF centers for specialized care of diagnosed newborns.
- Phased regional implementation across France from 2002 to 2003.
Conclusions:
- The revised French neonatal screening program for CF is based on expert recommendations and legal frameworks.
- The program emphasizes early detection, genetic testing, and centralized specialized care.
- Ongoing evaluation ensures program efficiency and compliance with agreements.
Abstract:
This paper describes the adjustments to the French neonatal screening programme required by the introduction of systematic screening for cystic fibrosis (CF), taking into account both the legal and statutory framework and the lessons of a pilot study carried out 10 years ago. The French association for the screening and prevention of infant handicaps (AFDPHE) has been mandated by its regulatory agencies to organize screening for CF in France (metropolitan and overseas territories). During the year 2001, expert groups (Technical Aspects, Information, Ethics and Genetics, Criteria for CF Centres, Protocol for the Care of a Newborn with CF) issued recommendations for the establishment of a national programme that would guarantee efficiency and adequate patient care from the time of diagnosis onward. The programme is based on a strategy combining immunoreactive trypsin (IRT) assay and the analysis of DNA mutations in dried blood samples obtained at 3 days of age. When an elevated IRT value is found, DNA analysis is performed on the same sample. Owing to the relative regional heterogeneity existing in France, 30 selected mutations are used, which provide 85% coverage. The Ethics and Genetics Committee recommended that, in order to avoid arousing anxiety by a recall, informed consent, according to the French legislation on bioethics, should be obtained for all neonates at birth by having the parents sign directly on the sampling paper. Information brochures for parents and health professionals have been designed. A new organization of patient care, involving the creation of CF centres recognized by the Ministry of Health, has been decided; all children diagnosed are to be referred to such centres, where they can be well cared for by a trained staff with sufficient means. The programme was implemented region by region in France, from the beginning of the year 2002 to early 2003. The expert groups still meet periodically to evaluate the implementation of the programme and to check that the terms of the agreement between the AFDPHE and the Social Security Agency are complied with.
