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Published on: August 17, 2022
[Newborn screening as a predictive genetic test: principles and challenges]
1Division für Humangenetik, Medizinische Universität Innsbruck, Innsbruck, Austria. johannes.zschocke@i-med.ac.at
Insights
Newborn screening has expanded due to technology, but not all conditions are suitable for screening. Establishing clear criteria and advisory boards ensures the long-term success of newborn screening programs.
Area of Science:
- Medical Genetics
- Public Health
- Biochemistry
Context:
- Universal newborn screening, initiated in the 1960s, has significantly advanced preventive medicine.
- Recent technological progress has broadened the scope of newborn screening globally.
- Expanded screening raises questions about the prudence of including all technically feasible conditions.
Purpose:
- To present criteria for including new disorders in newborn screening programs.
- To highlight metabolic disorders exemplifying current challenges in screening.
- To advocate for transparent decision-making processes for screening program content.
Summary:
- The article reviews criteria for adding new conditions to newborn screening.
- It discusses challenges using examples of metabolic disorders.
- It emphasizes the need for a transparent decision-making process.
Impact:
- Informed decisions on expanding newborn screening programs.
- Improved identification and prevention of inherited metabolic and endocrine disorders.
- Enhanced societal acceptance of universal newborn screening through transparency and advisory boards.
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.
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