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