Newborn Screening Programs: Next Generation Ethical and Social Issues

Abstract

The benefits of neonatal screening programs are undeniable: children’s lives are saved, and disease burden and morbidity alleviated. Without a doubt, « classical » neonatal screening programs are in the best interests of newborns. Indeed, those screening programs are recognized among the ten most important public health achievements. However, newborn screening programs raise ethical, legal and social challenges. For example, which criteria should govern whether or not to include a disease in the list of screened conditions? Is it equitable that there is great variability in the number and types of diseases screened from one neonatal screening program to another? What should be the consent procedure and/or the notification process to parents? Should carrier status for a recessive disorder be communicated to parents? What are the practices surrounding the collection, retention and potential secondary use of residual blood spots? Are these practices ethically sound? Moreover, in recent years, one of the biggest challenges of newborn screening programs has become the availability of a new technology: the arrival of next-generation sequencing technologies, such as whole genome sequencing, at a decreasing cost. This sequencing approach offers the possibility to use genomics tools in a public health setting—to provide “precision” public health. However, there remain issues related to disease prediction, notably: the identification of certain genetic factors could impact other family members. In addition to such medical information, whole genome sequencing also has the potential to reveal genetic variations of uncertain or completely unknown significance, and information about non-health traits, which may affect the parent-children relationships as well as the family dynamic. The goal of this manuscript is, first, to describe the key challenges associated with the use of genomic sequencing technologies into the public health umbrella of newborn screening programs. Secondly, we will discuss the positions and statements published in the last decade surrounding genomic sequencing technologies in newborn screening programs. We will demonstrate that, given the diversity of positions and stakeholders involved, a centralized and unique vision may be premature—albeit needed—at the international level. More specifically, we urge for immediate deliberation by the WHO on the policy challenges raised by the potential introduction of genomic sequencing in newborn screening programs. We believe that now is the time to reach an international consensus based on public health ethics and law as well as evidence-based outcomes.