Abstract
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.
Highlights
Neonatal bloodspot screening (NBS) is offered to parents for the early detection of, mostly autosomal recessive, disorders in their child
Uncertain Results: Weighing the Psychological Impact Stakeholders indicated that an increase in the number of disorders included in NBS could lead to an increase in false positive results or in results of unknown clinical significance
They mentioned that the full phenotypical spectrum of many disorders, in the current NBS, is still unknown and that in some cases screening could lead to the detection of mild disease variants
Summary
Neonatal bloodspot screening (NBS) is offered to parents for the early detection of, mostly autosomal recessive, disorders in their child. Programs principally include disorders that pose a serious health problem for the child, where timely detection allows for effective treatment or prevention, based on the Wilson and Jungner principles for screening [1]. In 2015, the Health Council of the Netherlands advised that NBS be expanded to include an additional 14 disorders, resulting in a program targeting 31 disorders in total [3]. This was based on applying the classical principles of NBS [1]. Diagnosing mothers with a metabolic problem is outside the goal of NBS, and it is unclear what the medical and psychosocial impact is for these women
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
