Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations

Abstract

Newborn screening (NBS) has widely been utilized in developed countries as a cost-effective public health strategy that reduces morbidity and mortality. Developing countries, however, are new to the NBS scene and have their own unique challenges, both in instituting the program as well as effectively acting on the results. NBS offers numerous ethical issues on a global scale, however, here we argue that there are unique ethical issues surrounding the development and expansion of newborn screening in Latin America given its highly heterogenous population. Once a NBS program is effectively instated, ethical considerations continue when pursuing expansion of screening to include further conditions. While Latin America grapples with the ethics of expanded newborn screening (ENBS), some developed countries discuss utility of genomic sequencing technologies in the newborn population. When the ability to detect further pathology is expanded, one must know what to do with this information. As rare diseases are identified either on ENBS or via genome sequencing, access to treatments for these rare diseases can be a real challenge. If we consider newborn screening as a global initiative, then we need more than a deontology approach to analyze these challenges; we need an approach that considers the unique characteristics of each territory and tremendous heterogeneity that exists prior to the implementation of these programs. As genomic technology advances further in the developed world, while some developing countries still lack even basic newborn screening, there is a further widening of the gap in global health disparities. The question is posed as to who has responsibility for these newborns’ lives on an international level. Without an approach towards newborn screening that accounts for the diverse global population, we believe optimal outcomes for newborns and families across the world will not be achieved.

Principles of Genomic Newborn Screening Programs

“…Limitations of these findings are that the literature reflects a White, female, and higher socioeconomic status view and that more diversity is required in the data. Furthermore, health care systems across the world have different NBS capabilities, 58 decreasing the generalizability of these results. In addition, research looking at the burden on the workforce, health economics, and data storage is lacking.…”

Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

“…NBS is an essential vanguard for infant care and has provided vast improvements in the early diagnosis of many congenital diseases. In addition to advances in health outcomes, the severe clinical expression of the disease may be prevented and a reduction of healthcare expenditure with a benefit from a cost-effectiveness perspective may be achieved in some disorders ( Cabello et al, 2021 ). However, varying limitations exist from country to country, which may range from continuity of care for the patient to cost and availability of these screening tests as budgets vary.…”

“…It currently covers CH and PKU. An ENBS pilot program is currently underway that aims to expand the number of conditions tested in Chile from 2 to 26 ( Cabello et al, 2021 ).…”

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

“…Mexico and South America started NBS in mid-1970s with PKU and struggled to achieve a whole coverage of population since then, with the exception of Cuba, Costa Rica, Chile, and Uruguay, where around 100% coverage was reached [ 35 , 36 ]. Difficulties encountered were mostly due to the lack of financial resources and fundings for free national NBS programs (especially regarding the high cost of tandem MS equipment), and the high prevalence of major, priority health issues, such as malnutrition and infectious diseases.…”