Newborn screening (NBS) aims to identify rare but treatable conditions in newborns to offer early interventions. The possibilities of genomic sequencing are being researched to further strengthen NBS. This scoping review explores public and parent perspectives on genomic sequencing in NBS. We performed a literature search in Embase and Psych-abs databases to find relevant articles from 2005 until August 2024. Twenty-seven articles describing 20 studies from 7 countries were included, mostly describing survey studies. The public and parents reported a positive interest in genomic sequencing in NBS, but were overall more willing to participate in standard NBS compared to genomic NBS. Respondents’ perceived benefits of genomic NBS included increased health gain for newborns, preparedness for parents and their child, enabling family planning, and benefits for other family members and population health. Most perceived concerns related to the storage and privacy of genomic sequencing data, fear of insurance discrimination, and psychological worries as a result of genomic sequencing test results. Articles reported limited public concerns regarding test accuracy or the possibility of receiving uncertain results. Preferences on how genomic sequencing should be offered were mentioned regarding decision-making and informed consent, result delivery, data storage, and program offer and costs. In conclusion, the public and parents seem generally supportive of genomic sequencing in NBS. However, to uphold support and participation comparable with current NBS programs, arguments and beliefs of the public and parents should be further explored if genomic sequencing is to be successfully implemented into or alongside NBS programs.

Interest in the genomic sequencing of healthy newborns has raised a discussion on whether this technology should be introduced into existing newborn screening (NBS) programs. This qualitative study explores a multi-stakeholder perspective on the future of genomic sequencing in NBS. Semi-structured interviews were conducted with 26 professionals involved in NBS or in clinical genome sequencing in the Netherlands. Participants highlighted opportunities such as the possibility to use one test for a wide range of genetic conditions, reducing diagnostic odyssey, expanding the scope of NBS, and increasing program efficiency. Challenges were raised regarding genetic variant interpretation, expected increased parental anxiety, data privacy issues, difficulties with information provision, and high costs. Three areas of tension between participants’ perspectives were identified: screening strategy, screening performance, and roles and responsibilities. It was emphasized that implementing genomic sequencing should not risk reducing the current high NBS participation, and that enhancing knowledge, communication, and collaboration between all stakeholders is needed. Although most participants did not believe genomic sequencing as a first-tier test is currently desirable and feasible, they acknowledged it has a role to play in the future of NBS. Future decision-making should consider the potential impact on the participation rate, program quality, and balancing benefits and harms.