Towards genomic newborn screening, part II : outlining a normative framework

Abstract

Definition of problem

Newborn screening (NBS) is an internationally successful program for the secondary prevention of rare congenital diseases. At present, most of the target conditions in NBS are diagnosed by biochemical markers. Recent advances in genomic sequencing and in the bioinformatic evaluation of genetic variants will soon make it feasible however to expand NBS significantly by testing newborns directly for pathogenic variants. Yet, genomic newborn screening (gNBS) raises important ethical issues that require resolution, given that several pilot studies on gNBS implementation are already underway. Given a rapidly growing scholarly engagement with the ethics of gNBS, a more systematic and comprehensive mapping of the ethical issues and considerations relevant to gNBS is needed to move the debate forward at this point. Methods

In this integrative review, we survey the literature with the aim of delineating a conceptual framework for the ethics of gNBS, which organizes the ongoing debate and thereby provides guidance for further research. Here in Part II, we outline a tentative normative framework for the ethics of gNBS by systematizing the core ethical principles advanced in the literature and offer an original contribution to the debate beyond a mere survey of considerations by proposing a substantive interpretation of these principles and how they relate to each other in the gNBS context. We demonstrate the general utility of this framework for addressing the ethical issues involved in gNBS program design by drawing out its implications for some of the issues presented in Part I. Conclusion

In Part I, we formulated a requirement of informed consent for gNBS. Since newborns still lack a capacity for autonomous choice and informed consent, we approach gNBS program design through the question of what renders it ethically permissible for the child’s custodians to consent to gNBS in its name. Consequently, we discuss the authority of parents as surrogate decision-makers for their child, who are bound by a duty of care towards it. We substantiate this duty (a) by discussing several rights of the child, viz., its rights to informational self-determination, genetic ignorance, privacy, and an open future, and (b) by developing a specification of the best interest standard for children as the main principle that should guide and constrain both parental decision-making and gNBS program design. Finally, we consider concerns that gNBS could result in a harmful medicalization of healthy children.