Three ethical approaches to expanding newborn screening through genomics: a critical comparative analysis

The expansion of newborn bloodspot screening (NBS) programs through genomic sequencing is proposed as a way to revolutionise infant and lifelong healthcare. But for all its promise, profound ethical challenges arise too. Robust analysis of these ethical challenges, which include technological and commercial imperatives, as well as balancing individual rights with communal goods, first necessitates clarity as to which ethical approach is best suited to considering the use of genomics in NBS.

We use normative ethical analysis to provide a critical comparison of three ethical approaches to the expansion of NBS that shape debates over the implementation of genomic newborn screening (gNBS): liberal individualism, public health ethics, and genomic healthcare as a human right.

While these approaches often overlap in practice, their distinct priorities illuminate tensions between individual autonomy, collective welfare, and rights-based claims to genomic information and attendant healthcare. We argue that public health ethics should be the primary ethical approach for gNBS. Yet, none of the three approaches are individually sufficient to fully address the ethical complexities involved. This is because each approach sheds useful light on distinct benefits and limitations of gNBS.

While rigorous evidence-gathering to inform the ethical and societal impacts of gNBS is critical, this must be accompanied by - and interpreted through - normative ethical analysis that clearly articulates the values and tensions at stake. Overall, ethical implementation of gNBS requires a policy approach that (i) adopts public health ethics for programme design, (ii) operationalises select human-rights claims in accordance with established screening principles, and (iii) embeds liberal protections against state or parental overreach.