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Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey
Çağlar Fidan1, Hüseyin Örün1, Aslı Begüm Alper2
1Başkent University Faculty of Medicine, Department of Public Health, Ankara, Turkey.
Insights
Expanding newborn bloodspot screening (NBS) in Turkey is crucial. International comparisons show Turkey screens fewer diseases than other countries, necessitating an enhanced NBS program based on updated criteria and local data.
Area of Science:
- Public Health
- Genetics
- Pediatrics
Background:
- Newborn bloodspot screening (NBS) is a vital public health strategy for early diagnosis and treatment of rare diseases.
- Current NBS programs vary significantly worldwide in the number of screened conditions.
- Turkey's national NBS program screens a limited number of disorders compared to international standards.
Purpose of the Study:
- To evaluate international NBS programs and provide recommendations for expanding Turkey's NBS program.
- To assess the current status of spinal muscular atrophy (SMA) screening within NBS programs.
- To review WHO and EURORDIS guidelines for effective NBS.
Main Methods:
- Comparative analysis of NBS policies and screened diseases in Turkey and 11 other countries.
- Literature review of WHO, EURORDIS, and SMA NBS Alliance guidelines.
- PubMed database search for relevant studies published between 2008 and 2021.
Main Results:
- The number of diseases screened in the examined countries ranged from 5 (Turkey) to 51 (New York, USA).
- Significant variability exists in the scope of NBS programs globally.
- Turkey's current NBS program requires expansion to align with international best practices.
Conclusions:
- Turkey's NBS program should be expanded by incorporating updated screening criteria and considering local epidemiological data, workforce, and infrastructure.
- Cost-effectiveness analysis and pilot implementations are recommended for program expansion.
- The expanded NBS program should prioritize diseases and disorders deemed appropriate for the national context.
Abstract:
Bloodspot screening in newborns is an exemplary public health intervention as it is essential secondary prevention with proven efficacy and benefit for the early diagnosis and prompt treatment of rare diseases. In this mini review, newborn bloodspot screening (NBS) programs of 12 countries were examined in terms of the extent of diseases/disorders screened to form recommendations for Turkey's expanded newborn screening program. Essentially, Turkey and 11 selected countries' official policies/ national programs or strategies in terms of newborn screening and the number of diseases/conditions screened were examined. The current status of spinal muscular atrophy (SMA) screening was also checked through the SMA NBS Alliance. In addition, WHO and EURORDIS guidelines for newborn screening were also reviewed. On the Pubmed database, following the search strategy "((newborn screening[Title/Abstract]) OR (newborn screening program[Title/Abstract])) OR (newborn blood spot screening[Title/Abstract])" in the PubMed database from 1 January 2008 to 1 December 2021. Diseases that will be recommended to be included in the Turkish national newborn bloodspot screening program will be presented by evaluating the updated criteria of Wilson and Jungner by constructing international comparisons. The number of diseases/disorders screened by the inspected 12 countries is eminently variable and ranges from 5 in Turkey to 51 in New York, United States of America (USA). Acknowledging the programs of other countries, it is evident that Turkey must advance its program by evaluating the epidemiological data in Turkey, the health workforce, and infrastructure while relying on the updated screening criteria. The newborn bloodspot screening program should be expanded based on the cost estimates and implemented starting with pilot applications and the diseases/disorders that are deemed appropriate should be included in the national program.
