title: [Newborn screening as a predictive genetic test: principles and challenges].
abstract: Universal newborn screening for a range of mostly inherited metabolic and endocrine disorders, started in mid-1960ies, is a success story of preventive medicine. New technological advances particularly in the last 10-15 years have led to an expansion of newborn screening in many countries. This has allowed introduction of sometimes life-saving preventive measures in more children, but it has also become more obvious that screening may not be prudent for all conditions in which it is technically feasible. The present article provides criteria that have been used or discussed for the inclusion of "new" disorders in newborn screening programs, and highlights exemplary metabolic disorders that illustrate imminent challenges. In order to secure long-term acceptance of universal newborn screening within the society, its aims and contents should be determined through a transparent decision finding process. This may best be achieved through the establishment of a representative newborn screening advisory board.
authors.affiliation: Division für Humangenetik, Medizinische Universität Innsbruck, Innsbruck, Austria. johannes.zschocke@i-med.ac.at
authors.forename: Johannes
authors.initials: J
authors.lastname: Zschocke
mesh_terms: D026683:Advisory Committees; D001317:Austria; D004992:Ethics, Medical; D005240:Feasibility Studies; D005820:Genetic Testing / Q000941:ethics; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D015997:Neonatal Screening / Q000941:ethics; D010342:Patient Acceptance of Health Care; D011237:Predictive Value of Tests