Original Research
Implementation of Informed Consent for a Cystic Fibrosis Newborn Screening Program in France: Low Refusal Rates for Optional Testing

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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 18 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.

Section snippets

CF NBS Strategy

In dried blood samples obtained at 3 days of age, IRT is measured and the DNA tested (using a panel of 30 selected mutations) when IRT is above the cut-off.5 If no mutation is found or DNA testing not performed because of parent's refusal, a second sample is taken at 3 weeks of age for a control measurement of IRT.

Collection of Written Consent

Informed consent is obtained for all neonates at birth by having the parents sign directly on the sampling paper. The text of the consent (Figure 1) has been established according to

Results

In compliance with the statutory provisions, the circulation of sample cards has been modified. When advised of a positive IRT result, the Regional AFDPHE physician prescribes the DNA test for CF mutation analysis and sends a copy of the consent and 2 blood spots to the agreed molecular biology laboratory (9 in France vs 20 screening laboratories). The result is sent back to the Regional AFDPHE physician, who will then organize the follow-up (refer the patient to the CF center for sweat testing

Discussion

Previous NBS tests were performed with the “tacit consent” of parents. For many years, parents were informed about the optional screening tests performed on their child by simple means: the health care worker in the maternity ward gave the mother a few facts verbally when the test sample was taken and handed her a leaflet. The parents, for their part, did not seem to want more detailed information, and in 25 years of NBS hardly any refused the test. The implementation of CF NBS required us to

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