Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective

Neonatal bloodspot screening (NBS) aims to detect treatable disorders in newborns. The number of conditions included in the screening is expanding through technological and therapeutic developments, which can result in health gain for more newborns. NBS expansion, however, also poses healthcare, ethical and societal challenges. This qualitative study explores a multi-stakeholders' perspective on current and future expansions of NBS. Semi-structured interviews were conducted with 22 Dutch professionals, including healthcare professionals, test developers and policy makers, and 17 parents of children with normal and abnormal NBS results. Addressed themes were (1) benefits and challenges of current expansion, (2) expectations regarding future developments, and (3) NBS acceptance and consent procedures. Overall, participants had a positive attitude toward NBS expansion, as long as it is aimed at detecting treatable disorders and achieving health gain. Concerns were raised regarding an increase in results of uncertain significance, diagnosing asymptomatic mothers, screening of subgroups (males only), finding untreatable disorders, along with increasingly complex consent procedures. Regarding the scope of future NBS expansions, two types of stakeholder perspectives emerged. Stakeholders with a targeted-scope perspective saw health gain for the neonate as the exclusive NBS aim. They thought pre-test information could be limited, and parents should be protected against too much options or information. Stakeholders with a broad-scope perspective thought the NBS aim should be formulated broader, for example, also taking (reproductive) life planning into account. They put more emphasis on individual preferences and parental autonomy. Policy-makers should engage with both perspectives when making further decisions about NBS.

Automated summary

Participants expressed a positive attitude towards NBS expansion for treatable disorders and health gain, while voicing concerns about increased uncertainty in results, diagnosing asymptomatic mothers, screening subgroups, and complex consent procedures. Stakeholder perspectives on future NBS expansions were divided into targeted-scope and broad-scope approaches, emphasizing health gain versus broader considerations, such as individual preferences and parental autonomy. Policy-makers are advised to consider both perspectives when making decisions about NBS expansion.