Who and how we engage: A systemic mapping of stakeholder perspectives on genomic newborn screening

The use of genomic sequencing in newborn screening is increasingly being piloted through research programmes worldwide. In parallel, an expanding body of attitudinal studies has examined stakeholder views as jurisdictions consider whether and how to implement genomic newborn screening (gNBS). To understand what perspectives have been represented thus far in stakeholder research and how those perspectives have been shaped by study design, we conducted a systemic mapping of 41 attitudinal studies about gNBS. Studies were conducted in eight countries, with more than half linked to ongoing pilot programmes. We observed a limited range of perspectives, with mothers and people with prior experience of a genetic condition in the family relatively frequently represented. As gNBS would primarily involve testing newborns who are not affected by genetic conditions, additional perspectives are needed. Studies varied considerably in how gNBS was described to participants. The issues most frequently explored concerned acceptability (n = 31), consent (n = 24), scope of screening (n = 26), psychosocial implications (n = 25), and data storage and secondary use (n = 22), whereas healthcare system readiness (n = 13) and equity considerations (n = 11) received comparatively less attention. Many studies left unaddressed participants' underlying assumptions about the predictive certainty of genomic findings, highlighting a need to situate gNBS within the realities of genomic uncertainty. At a time when policymakers are actively considering gNBS, this mapping highlights the need for careful interpretation of existing findings and identifies research priorities, particularly in relation to understanding gNBS as a public health programme.