Implementation of informed consent for a cystic fibrosis newborn screening program in France: Low reifusal rates for optional testing

Objectives The French Association for Neonatal Screening implemented cystic fibrosis neonatal screening (CF NBS) region by region in France, from the beginning of the year 2002 to early 2003. The program uses an immunoreactive trypsinogen/DNA testing algorithm on dried blood samples obtained at 3 days of age. Incorporation of DNA testing necessitated compliance with official regulations and French "bioethics" laws: the need for a written consent from the patient/guardian and specific circulation of the prescription, sample, and results. To fulfill these obligations, the Ethics and Genetics committee of the French Association for Neonatal Screening recommended that informed consent should be obtained for all neonates at birth by having the parents sign directly on the sampling paper. This study was designed to evaluate the effect of the educational efforts used to obtain informed consent on acceptance of CF NBS. Study design Data from the screening center in Lille, France, were analyzed to determine the rate of refusal of CF NBS in the IS months after initiation of the informed consent process. Results The number of refusals for CF NBS declined from 0.8% at the start of the program to 0.2% at the end of the first year of the new process for obtaining written consent. Conclusions Efforts to inform parents and professionals resulted in a significant decrease in the number of refusals for CF NBS.