Newborn Screening Programs: Next Generation Ethical and Social Issues

Abstract

Although newborn screening programs are among the ten most important public health achievements, a number of ethical, legal and social issues have emerged. Notably, the number of diseases screened; consent and notification processes; sample, retention; and potentially secondary use of residual blood spots are now contested. In addition, newborn screening programs are also facing one of the biggest challenges, the arrival of next-generation sequencing technologies, such as whole genome sequencing. The key ethical, legal, and social issues surrounding genomic sequencing technologies in newborn screening programs will be analysed through, among others, the positions and statements published of the last decade. Given the variety of positions and of stakeholders involved, we urge for immediate deliberation by the WHO on the policy challenges raised by the potential introduction of genomic sequencing in newborn screening programs. Now is the time to reach an international consensus based on public health ethics and law as well as evidence-based outcomes.