Newborn screening in Europe Expert Opinion document

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FINAL 28/08/201151. The information contents and communication guidelines, for the communication of theneed for additional clinical investigations to parents, should be defined at programmanagement level and published; there may be advantages to sharing existing examplesand experiences.52. For every positive NBS result a diagnostic confirmation test, performed by establishedlaboratory methods according to predefined standards, must take place, for most disorderswithin 24 hours or the next working day after communicating a positive screening result.53. Communication means should ensure timely delivery to parents, with check on receiptand understanding. Communication of any result, including negative results, maycontribute to quality control and parental wellbeing.Confirmation of diagnosis and treatmentProtocols for confirmation and diagnosis are needed at program management level, and needto be attuned at clinical services level. In small countries there is often not enough clinicalexpertise. As in the treatment of all rare disorders, expertise in other EU countries needs to bemade available for the well-being of all EU patients. The EUNENBS considers thatcentralisation of care is not always needed, but that there should be (inter)national guidelinesfor the care. Whether centralisation is needed is dependent on the disorder, its prevalence andthe difficulty of the treatment.Once the diagnosis has been confirmed in the diagnostic unit by expert health professionals,parents need information on the diagnosis in their child. Common practice in EU is that aconfirmed diagnosis is communicated by paediatricians. While some parents prefer to beinformed only by physicians in person, physicians especially may be served by webportalscontaining high quality information to add to the information provided. ORPHANETassociatedwebsites are present in almost all EU countries, mostly in the local language, andprovide quality information of use for physicians and health professionals as well as forfamily carers and the patients. This could be a good possibility for validated andhomogeneous information. Parents organisations also can support individual parents withinformation and peer contact. Help lines also may be useful, but their presence in the EUcountries is less extended than ORPHANET websites. Existing national NBS websites canserve as examples for other countries. Protocols on whom to treat as patient and how to treatthem, must be available at program management level.Expert opinion:54. Defined “diagnostic protocols” should be developed which relate directly to the casedefinition. Protocols on whom to treat as patient, including referral to clinical services,should be available at program level.55. Protocols for confirmation of diagnosis and guidelines for treatment should be defined atprogram management level; there may be advantages to sharing existing examples andexperiences.56. Communication after a confirmed diagnosis is extremely important. Personalcommunication by physicians can be supported by information from accreditedwebportals.36
FINAL 28/08/2011Communication of unintended findingsNBS will generate intended and unintended findings. Sometimes other conditions arediagnosed, such as thalassemias when looking for sickle cell disease with HPLC. The benefitsof early diagnosis are less clear. As thalassemia is a treatable childhood condition, this is not aserious problem. On some occasions infants may have metabolic symptoms due to a maternalmetabolic condition. Parents should be given the possibility to be informed of any relevantunintended finding in their infant, including carrier status, 67 unless forbidden by law. 68 If theinfant is a carrier, at least one of the parents is a carrier too, and the risk of having a child witha serious condition is increased. Therefore the information on carrier status of the child isrelevant to the parents. The EUNENBS considers that unintended findings that could berelevant to the parents always should be communicated. It acknowledges however that itmight not always be straightforward to define whether a result is relevant. Communicationplans on positive results must be developed at program management level for consistencyreasons. Findings for which the assessment concluded for an unfavourable balance of risksand benefits, should not be communicated. 69 Information which is not necessary withreference to timely and effective benefit, should not be communicated and should bedestroyed.Expert opinion:57. Parents should be given the possibility to be informed of any unintended finding thatcould be relevant, to the extent this is consistent with laws, individual data protectionrights and the right to privacy.58. Different positions have been taken in the debate on unintended findings. Discussion isneeded in countries to develop policy, and legislation if appropriate. This should bepublished.59. As far as unintended but relevant information for the health of the child or mother isconcerned, parents should be given the possibility to be informed. For the return ofinformation on carrier status a separate decision, consistent with other relevant nationalhealth regulations, is needed in each country. This is because carrier information ismainly important for reproductive choice of the parents and not directly for the health ofthe screened newborn. The content of the information and guidelines for itscommunication to parents should be defined at program management level; it may takeadvantage from sharing existing examples and experiences.67 European Society of Human Genetics. Genetic testing in asymptomatic minors: Recommendations of theEuropean Society of Human Genetics. Eur J Hum Genet. 2009;17:720-1.Burton H, Moorthie S. Expanded newborn screening. A review of the evidence. Cambridge, PHG foundation,2010.Bombard Y, Miller FA, Hayeems RZ, Avard D, Knoppers BM, Cornel MC, Borry P. The expansion of newbornscreening: is reproductive benefit an appropriate pursuit? Nat Rev Genet. 2009;10:666-7.Borry P, Nys H, Dierickx K. Carrier testing in minors: conflicting views. Nat Rev Genet. 2007;8(11):828.68 In Germany on February 1 st , 2010 the “GendiagnostikGesetz” (Genetic testing law) came into force, protectingthe right-not-to-know incidental findings. http://www.gesetze-im-internet.de/bundesrecht/gendg/gesamt.pdf69Council of Europe Additional Protocol to the Convention on Human Rights and Biomedicine, concerningGenetic Testing for Health Purposes , art 16, items 2, 3, 437
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