Newborn screening in Europe Expert Opinion document

FINAL 28/08/2011discovered and treated very early in life”. 45 “If the defect is detected very early in life mentalretardation can be prevented”. Also galactosaemia is mentioned here, “but, unlike PKU, ifuntreated it leads to early death.”The health burden should be evaluated based on birth prevalence and severity. 46 This firstWilson and Jungner criterium is basically an efficiency question. It is most likely thatscreening is worthwhile, when there is a good intervention for a severe and relatively frequentdisease. Once a neonatal screening program is in place, one could well imagine that screeningfor a rare and/or not so severe condition could still be cost-effective.EU countries have included a diversity of disorders in their NBS programs. Congenitalhypothyroidism (CH), PKU, congenital adrenal hyperplasia (CAH), medium chain acyl-CoAdehydrogenase deficiency (MCADD) and maple syrup urine disease (MSUD) have in manycountries been included in the program as it is clear that these are important health problemswhere an early diagnosis prevents irreparable damage. The same is true for sickle cell disease(SCD)/β thalassemia in Mediterrean countries or countries with migrant populations.The frequency of the disorder played a role in recent screening debates in Finland, wherePKU does not occur in the indigenous population. Migration is changing the prevalence.Therefore targeted PKU screening is now offered by most of the maternity hospitals inFinland to people of non-Finnish ancestry. Also the frequency of sickle cell diseases (SCD)has changed in some populations due to migration (from Africa and Asia), raising thequestion of targeted screening of an ethnic group and the perception of inequality for thoseexcluded or discrimination of those targeted. Finding the group at risk is not alwaysstraightforward. A population-wide approach minimizes these problems. There appears to bea growing consensus that ethnically targeted neonatal screening is not an acceptable publichealth strategy. 47In the current age of high throughput technology, a relevant question is whether each of theconditions in a NBS program needs to fulfil the criterion “important health problem”.Alternatively, a technological development could define a group of disorders to be identifiedby one technology (such as tandem mass spectrometry: ms/ms). The EUNENBS consideredthat the pros of technology-driven combinations of disorders could be summarised, but conscount per disorder. There may be reasons to group conditions, especially cost-effectiveness,but this does not detract from any requirement for each individual condition to adhere to theprerequisites that there must be effective interventions as well as good test performance, fewadverse effects on the unaffected population and adequate services to look after the children. 48A responsible evaluation per disease is thus needed. Screening should only occur when it isclinically relevant. It was acknowledged by EUNENBS however that it is difficult to definethe threshold for whether screening of a disorder is clinically relevant.Performing a screening program will help to better understand all aspects of a disorder. Theevaluation of the Wilson & Jungner criterium #7 may thus change after the start of ascreening program as new information becomes available.45 http://whqlibdoc.who.int/php/WHO_PHP_34.pdf (page 27).46 Charter of fundamental rights of the European Union, art 35. Amsterdam Treaty of the EU, Art 16847 Grosse SC, Olney RS, Baily MA. The cost effectiveness of universal versus selective newborn screening forsickle cell disease in the US and the UK. Appl Health Econ Health Policy 2005;4:239-247.48 Burton H, Moorthie S. Expanded newborn screening. A review of the evidence. Cambridge, PHG Foundation,2010.25