Newborn screening in Europe Expert Opinion document

FINAL 28/08/2011may even be needed (has the birth prevalence of a genetic variant or congenital infectionchanged over time?). The current situation of storage in EU countries is very diverse, withFrance not allowing storage for more than one year. Danish samples have been stored formore than 25 years, and were used for several research projects. 66 The collection of heelprickcards may be organised in collaboration with the BBMRI initiative (Biobanking andBiomolecular Resources Research Infrastructure; www.bbmri.eu). For research and long-termfollow up, governance at the program management level is needed. Legal provisions arerequired especially for long term storage.Expert opinion:46. Blood spots need to be stored for quality control in the NBS screening laboratory for atleast five years.47. Blood spot storage should ensure appropriate protection of sensitive personal informationand of biological samples (e.g.: compliance with the relevant regulations).48. Informed consent should be asked, at least for activities not strictly related to the benefitof the newborn, such as storage for quality control and research. For use of the bloodspotafter 18 years the child should have the possibility to consent or dissent.49. Use of blood spots for research purposes is subject to national specific ethical regulations(e.g.: definition of research objectives and timing, informed consent, approval by theethical committee). The potential interest for research and the possible misuse of residualNBS specimens has increased the need for regulation of specimen storage and accesspolicies at the European level for both ethical and legal reasons. At the European levelmajor differences in regulations should be avoided in view of trans-border health care andinternational research.Communication of positive resultIt is an enormous challenge to give parents adequate information in case of a positive NBSresult. As health care professionals communicating this message may not be experts (oftenprimary care physicians), letters must be provided summarizing the most importantinformation. Appointments with expert health professionals (e.g. metabolic paediatrician,clinical geneticist) should be made preferably on the same day that the positive result iscommunicated. Webportals may be used to inform families and health professionals such asGPs.Expert opinion:50. Communication of the need for additional clinical investigations should be preferablycarried out by specialists. In case good information has been provided to parents beforethe sampling/birth, this communication may be carried out also by non-experts, if clearlyinstructed what to communicate.66 Nørgaard-Pedersen B, Hougaard DM. Storage policies and use of the Danish Newborn Screening Biobank. JInherit Metab Dis 2007;30:530–53635