Newborn screening in Europe Expert Opinion document

FINAL 28/08/2011The discussion by the EUNENBS on these criteria focussed on the availability of treatment,that may differ between EU countries due to economic differences. What is accepted andavailable in one country, may not be affordable everywhere.Furthermore, the criterion “treatment available” has been broadened in many discussions ongenetic screening to include other advantages to parents, especially (a) avoiding a diagnosticodyssey and (b) informed reproductive choice for the next pregnancy(ies) including geneticcounseling. The primary aim of NBS programs is to improve the health status of infants withtreatable conditions. The broader benefit and the management of the family need to be takeninto account when assessing the Wilson and Jungner criteria on “treatment”.Test5) There should be a suitable test or examination 6) The test should be acceptable to thepopulation and 8) There should be an agreed policy on whom to treat as patients.Screening tests may be based on the concentration and/or activity of metabolites and/orenzymes. If the result is outside the normal range, it is considered “test-positive”. The cut offchosen is a compromise between sensitivity and specificity. A cut off with very highspecificity may lead to false negatives. A cut off with a very high sensitivity may lead tomany false positives. Missing cases should be avoided because they reflect evidence of failureof a program, fail to prevent a serious harm to the patient, elicit doubts on the quality of thescreening and may cause legal consequences; false positive results generate temporarydistress in the involved individual/family and an unnecessary (unsustainable?) burden for thehealth system.Also information on mild phenotypes, late-onset disorders or carrier status may be derivedfrom neonatal screening tests. Examples of mild phenotypes are cases of cystic fibrosis orPompe disease that might not develop symptoms for decades. The EUNENBS considers thatNBS programs should avoid as much as possible these unintended findings. This may requireadaptation of test and automatic data processing, for instance by using filters that limit thereporting of results to certain specific metabolites, values outside certain thresholds, orspecific gene mutations. As a general rule, good information provision is a prerequisite. Ifunintended results are found (such as carrier status), people need to be informed adequately,both before screening about the possibility of unintended results, as well as aftercommunication of the results. Legal issues are to be resolved if identifiableinformation/samples are stored in the NBS database that is not known to parents/patients.As to information of carrier status, the ethics of recording and communicating thisinformation should be assessed also in comparison with other common practices regardingreproduction (which may differ among countries), such as sexually transmitted diseases;prenatal investigations; interruption of pregnancy; assisted reproduction technologies; but alsoother health fields, such as infectious diseases; occupational and environmental exposuresstatistically associated with chronic diseases; other preventive screening programs in thenormal population or in population groups at higher risk.Cost9) The cost of case-finding (including diagnosis and treatment of patients diagnosed) shouldbe economically balanced in relation to possible expenditure on medical care as a whole(Wilson and Jungner 1968).27