Newborn screening in Europe Expert Opinion document

FINAL 28/08/2011Quality assurance of laboratory resultsBoth at program management level and laboratory testing level the competence of personnelshould be guaranteed. The presence of highly fragmented services in some countries isprobably the single most important barrier to the successful organisation of neonatal screeningto a consistent standard within the EU. The performance of laboratories may depend onnumber of samples handled and the successful participation in quality schemes. Smallercountries may consider collaboration with other countries. In countries where several smallerlaboratories perform NBS reduction and/or centralisation may be needed. This should notendanger the quality of the existent system.Expert opinion:60. NBS laboratories should be certified and participate in external quality assurance/controlprograms. The EU NBS committee should advise on EQA, poor performance andoffereducational support to poorly performing laboratories.61. Within a jurisdiction the number of laboratories should be limited. Optimal qualityperformance and cost effectiveness requires a minimum number of samples handled, suchas 30000-50000 samples per year.Screening program evaluationDatabases are needed of all neonates, samples received, conclusion communicated, andpositive results. Periodic (possibly annual) reports on the screening process should showuptake, time to receive sample and report result, time to start treatment, time to diagnosis. Acommunication plan should mention who should be informed of what information in theevaluation. If the results of NBS programs are not satisfactory, a decision to stop should beconsidered.The quality of the program needs to be monitored in all relevant aspects, from the provision ofinformation to parents-to-be till the storage of samples for future research. Monitoring andinformation collection should allow identification of the steps which may require correctivemeasures.Expert opinion:62. The quality of the process of the program needs to be monitored regularly (possiblyannually) to allow the identification of steps requiring improvement and the adoption ofappropriate corrective measures. Results should be made available by open access.63. Evaluation of specific aspects of NBS programs must be considered for aspects other thanthose regularly monitored, such as recently changed information policies.64. Databases are needed to monitor and evaluate the program. As all NBS conditions arerare, international collaboration may help to facilitate evaluation.65. Systems should be in place to ensure that feedback of confirmed diagnosis and long termoutcomes are available for program evaluation, also in case of screened children movingabroad.38