Neonatal screening for cystic fibrosis: France rises to the challenge

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.

Combining Immunoreactive Trypsinogen and Pancreatitis-Associated Protein Assays, a Method of Newborn Screening for Cystic Fibrosis that Avoids DNA Analysis

“…Finally, mass newborn screening using DNA analysis is problematic in countries where informed consent is requested. 6 We have previously shown that the concentration of pancreatitis-associated protein (PAP), a stress protein synthesized by the diseased pancreas, is elevated in the blood of newborns with CF. 7 But PAP elevation is not strictly specific to CF, and CF screening with PAP would have had performance similar to that of IRT alone.…”

Programa de Triagem Neonatal do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brasil

“…Esta melhora, no entanto, não depende apenas do laboratório, onde são realizados os exames, e/ou do ambulatório, onde são acompanhados os pacientes afetados, mas de todo um conjunto de pessoas e instituições, que engloba desde os responsáveis pela criança (mãe e/ou pai), hospital ou maternidade onde nasceu a criança, postos responsáveis pela coleta adequada das amostras e seu envio de maneira ágil, Secretarias de Saúde dos municípios (realização de campanhas de esclarecimento quanto à importância do teste) até o Serviço de Referência de Triagem Neonatal. Semelhante ao já instituído na França 33 , a adoção do 3 o dia de vida do recém-nascido como sendo o "Dia da Triagem Neonatal", associada à divulgação abrangente, poderiam representar uma estratégia para ampliar a atenção neste programa de fundamental importância para a Saúde Pública. Com isto será possível ampliar a cobertura e encurtar o tempo para o início do tratamento nas crianças afetadas, proporcionando, assim, melhores perspectivas para os afetados.…”

Neonatal screening: from the ‘Guthrie age’ to the ‘genetic age’

“…In some countries, the inclusion of DNA-based testing techniques in the CF screening algorithm required procedures to be brought into line with laws on bioethics, initially established to protect individual rights to privacy (Farriaux et al 2003). One of the main consequence is the need to obtain a written consent to perform the test, with a risk that the parents refuse the test!…”