ESPE Yearbook of Paediatric Endocrinology

J Epidemiol Glob Health. 2024 Sep;14(3):638-644. PMID: 38922570 doi: 10.1007/s44197-024-00263-z

Brief Summary: This article reviews the Newborn Screening (NBS) guidelines in Saudi Arabia, the United States, Japan, Singapore, Canada, Australia, and the United Kingdom including current recommendations, issues of economic and technical feasibility, ethical considerations and recommendations for future policy.

For those countries with NBS programs, decisions concerning which disorders to screen are based on the epidemiological, financial, and economic resources of that country. As a result, variations exist between programs including national vs. regional/state based, the number and types of disorders screened and the screening methods. There are also variations with respect to mandatory testing vs opt in/opt out programs influenced by issues of autonomy, consent and privacy.

The cost per newborn can vary widely depending on the number of diseases screened, the types of technologies used, and the overall healthcare infrastructure of a country. The availability of tandem mass spectrometry has expanded the capacity of screening programs by allowing the detection of multiple conditions from a single blood spot. However, this is not always economically feasible. The use of next-generation sequencing has great potential, but high costs, raising concerns about the affordability and sustainability of widespread implementation. The Incremental Cost-Effectiveness Ratio (ICER) is a useful metric to assess the value of these programs. If the cost of screening is too high compared to the health outcomes, such as Quality-Adjusted Life Years (QALY), the program may not be deemed cost-effective.

Saudi Arabia adopted a nation-wide newborn screening program in 2005 and currently includes 18 disorders and will shortly add hemoglobinopathies. The authors advocate for conducting further population-based studies to assess the epidemiological data in Saudi Arabia in relation to the disease burden on the country’s economy. These are essential, particularly due to the high rate of consanguinity within the population and consequently higher prevalence of genetic diseases.

As global health shifts toward value-based healthcare, countries will need to balance the sustainability of screening programs with the benefits they provide. Cost-effectiveness, ethical considerations, and public health priorities will be crucial factors in this balancing act.