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Quality evaluation of newborn screening programs
G Loeber1, D Webster, A Aznarez
1National Institute of Public Health, Bilthoven, The Netherlands. gerard.loeber@rivm.nl
Insights
Newborn screening programs vary widely worldwide, with inconsistent quality evaluation across analytical, pre-analytical, and post-analytical phases. This study surveyed global programs to highlight organizational differences and improve future screening practices.
Area of Science:
- Medical Genetics
- Public Health
- Biochemistry
Background:
- Newborn screening programs have expanded globally over four decades, traditionally focusing on phenylketonuria and congenital hypothyroidism.
- Technological advancements enable screening for a broader range of disorders, yet program scope varies significantly between countries.
- Decision-making for screening protocols is influenced by professional interest, legislation, and funding, leading to disparities.
Purpose of the Study:
- To assess the global landscape of newborn screening programs.
- To identify variations in organization, quality evaluation, and follow-up procedures.
- To provide insights for improving worldwide newborn screening practices.
Main Methods:
- A questionnaire was developed and distributed to leading newborn screening centers in over 30 countries.
- Data collected focused on program organization, analytical, pre-analytical, and post-analytical phases.
- Results were analyzed to identify global differences and trends.
Main Results:
- Significant international variations were observed in program organization, turnaround times, coverage completeness, and follow-up.
- Quality evaluation predominantly focused on the laboratory analytical phase, with less attention to pre- and post-analytical stages.
- No correlation was found between screening procedures and the level of legislation or funding systems.
Conclusions:
- Global newborn screening programs exhibit substantial heterogeneity in structure and quality assurance.
- A comprehensive approach to quality evaluation, encompassing all phases, is crucial for effective newborn screening.
- Further research and international collaboration are needed to standardize and optimize newborn screening worldwide.
Abstract:
In the last four decades in many countries and regions all over the world newborn screening programs have been developed. Traditionally, most programs focus on phenylketonuria and congenital hypothyroidism. However, with development of new technologies, screening for a large variety of other disorders has become available. The decision-making process on what to screen or not to screen for is usually driven by personal interest of the professionals involved, by local legislation and access to funding, resulting in large differences among countries. In general, quality evaluation is only applied to the pure laboratory analytical phase. Less attention is given to the pre-analytical phase (e.g. timely sampling, maximum coverage) and the post-analytical phase (follow-up and treatment, evaluation of long-term effects, cost-effectiveness, etc.). In order to gain more insight into the current situation worldwide we developed a questionnaire which was sent to leading screening centers in more than 30 countries. As expected, the results show large differences in degree of organization, turnover times, completeness of coverage and follow-up. There appears to be no relationship between screening procedures and the degree of legislation or the system of funding. In presenting the more detailed results we hope to be of service to program organizers.
