Newborn screening in Europe Expert Opinion document

FINAL 28/08/2011very difficult to justify when the likelihood of a bad outcome is quite remote. 65 Given that thelikelihood of a true positive screen is quite low, parental refusal can not be described asabusive or neglectful.In a few EU countries NBS is mandatory, but without penalty for non-compliance by parents.If participation to NBS is mandatory by law for parents, (leaving the possibility of refusal)this reduces the burden of seeking informed consent by the program staff, although informingparents is still needed. Written consent is needed only in a few countries (Ireland, Germany,and France for DNA testing), without negative effect on coverage. Separate informed consentis needed for reporting unintended findings such as carrier status, for the storage of bloodspots and the use of blood spots for research. The legal protection of sensitive healthinformation, whether DNA or other, needs attention. In some countries the legislation forgenetic information is different from other sensitive health information (geneticexceptionalism). This may complicate the execution of NBS programs.Expert opinion:33. Neonatal screening must be offered to all infants in the EU.34. It should be offered as a service governed by appropriate legal provisions, which alsoensures compliance with quality requirements of other legislation (such as patient rights,personal data protection, biobanks, research approval by ethics committee, genetictesting, genetic counselling). The health care system should cover the costs.35. The importance of NBS in the best interest of their child should be clarified to parents.Participation should be voluntary.36. A specific consent should be sought for activities not strictly related to the benefit of thenewborn, such as the use for research purposes.37. The informed consent protocols should be defined at jurisdictional level, in consultationwith the appropriate stakeholders; it may take advantage from sharing existing examplesand experiences.Blood spot samplingIn most countries NBS programs use heelprick blood or blood from the hand. A few programsuse umbilical cord blood. The latter is available immediately after birth, and does not requireextra blood sampling. It is suitable for hypothyroidism and haemoglobinopathy testing, butdoes not allow for screening of inborn errors of metabolism. The earlier the sampling takesplace, the sooner the diagnosis can be made and the treatment can start. However, somemetabolites, specific for certain conditions in the screening panel, fluctuate significantlyduring the first 48 hours after birth, making this time window less suitable. For most disordersscreening between 48 and 72 hours is preferable (Current Practices Document, chapter 6). Thediversity in the current situation of blood spot sampling in EU member states is described inthe Current Practices document.An important parameter for the quality of the program is the completeness of blood sampling,preferably very close to 100%. It should be possible for parents to refuse participation of their65 Ross L. Mandatory versus Voluntary Consent for Newborn Screening? Kennedy Institute of Ethics Journal2010;. 20,: 299–32833