Identifying and overcoming barriers to harmonize newborn screening programs through consensus strategies

The benefits of newborn screening (NBS) programs have been widely demonstrated after more than 50 years since first established. NBS enables the detection of the disease before the child shows clinical symptoms, allowing clinicians to act early and facilitating appropriate interventions to prevent or improve adverse outcomes. Delay or lack of medical intervention in these infants may lead to developmental delay, severe disability, or premature death. NBS programs have grown exponentially both in the number of diseases screened and in complexity, creating controversy. New technological advances, as well as the emergence of new therapies that require early disease detection, have allowed for the inclusion of new diseases in NBS screening programs. However, different countries and even different regions have in turn adopted very diverse strategies and diagnostic algorithms when it comes to NBS. There are many factors responsible for these differences, such as the health care system, available funds, local politics, professional groups, and others that depend on the position taken by policymakers. These differences in NBS have led to discrepancies in detection opportunities between countries or regions, which has led to many varied attempts to harmonize NBS programs but not all have been equally satisfactory. Some countries have achieved good results, but always within their borders. Therefore, there are still many differences between NBS programs at the international level that must be overcome. These advances have also brought considerable uncertainty regarding ethical aspects and balance between benefits and harms. For this reason, and so that the situation of disparity in the global NBS programs can be minimized, health authorities must work to develop uniform criteria for decision-making and to take a further step toward harmonization. To do so, it is necessary to identify the crucial factors that lead to the adoption of different NBS programs worldwide, in order to analyze their influence and find ways to overcome them.

Automated summary

Newborn screening programs have been proven to be effective in detecting diseases early and allowing for early intervention to prevent adverse outcomes. However, different countries and regions have adopted diverse strategies and diagnostic algorithms in their NBS programs, leading to discrepancies in detection opportunities. Despite efforts to harmonize NBS programs internationally, there are still significant differences that need to be addressed.