Newborn screening in Europe Expert Opinion document

FINAL 28/08/20115. Criteria on how a screening program should beperformedScreening criteria relate to the question whether a screening is desirable (previous chapter) aswell as the conditions needed to perform a good program. 62 Facilities should be available foradequate surveillance, prevention, treatment, education, counselling, and social support.Screening should be a continual process, including pilot programs, evaluation of laboratoryquality and health services, evaluation of the effect of screening, and provisions for changeson the basis of new evidence. The quality of a screening program depends on the quality ofeach step in the chain of events, in which the involvement of several health care providers isessential. The pitfalls are numerous and success depends on the attunement among a varietyof actors under the public health leadership of a NBS coordinator. Quality management isneeded at all levels: program management level, clinical services level, laboratory testinglevel. 63 In this chapter we will discuss the steps in the chain following the sequence of events.While often technology has driven the development of NBS, we prefer to start earlier: withthe training of health care workers and information to parents and public.Often a neonatal screening program will be coordinated by a public health institute. However,when private health care institutions or commercial parties offer neonatal screening, the samequality criteria apply. It should be remembered that NBS is a program, not a test. It would bewrong to offer neonatal screening tests, when paediatricians can not provide adequate care incase of positive results.Training of relevant health care providersBefore NBS can start, all health care professionals involved need adequate training. Actorsmay include obstetricians, laboratory workers, paediatricians, primary care providers, etc.Information to prospective parents can be provided in obstetric care. Soon after birth healthcare providers will draw blood, often after discussing informed consent with parents.Laboratory workers have to report abnormal findings to physicians (often paediatricians), whoin turn inform parents. Primary care physicians will be confronted with questions afterwards.Training needs to be organised at program management level, while also professionalorganisations have responsibility for adequate postgraduate training.62 Grosse SD, Rogowski WH, Ross LF, Cornel MC, Dondorp WJ, Khoury MJ. Population Screening for GeneticDisorders in the 21st Century: Evidence, Economics, and Ethics. Public Health Genomics 2010;13:106–115.Simopoulos AP. Genetic screening: programs, principles, and research--thirty years later. Reviewing therecommendations of the Committee for the Study of Inborn Errors of Metabolism (SIEM). Public HealthGenomics 2009;12:105-111.Wilson JMG, Jungner G. Principles and practice of screening for disease. Geneva. WHO; 1968. Available from:http://whqlibdoc.who.int/php/WHO_PHP_34.pdf63 Andermann A, Blancquaert I, Dery V. A conceptual framework for genetic screening and policy-making.Journal of Health Services Research & Policy 2010;15: 90-97.31