Newborn screening programs, initially targeting a few conditions, have expanded significantly due to technological advancements and new treatments. Genomic sequencing, capable of detecting hundreds of conditions in a single test, presents new challenges regarding consent. While genomic screening might seem like a continuation of existing expansion, the implications for consent are under-explored. Existing screening criteria, such as the Wilson and Jungner criteria, may not fully address the issues raised by genomic sequencing, particularly regarding the ability to 'see but not report' information and the potential for long-term data storage. The paper highlights the need for a refined approach to consent in light of these technological advancements, focusing on the ethical implications of applying genomic technologies designed for diagnostics within a population health framework.

The authors review existing literature on newborn screening programs, highlighting the evolution of screening criteria and the challenges posed by new technologies such as tandem mass spectrometry (MS/MS) and genomic sequencing. They discuss the various consent practices adopted globally for newborn screening, noting the spectrum from mandatory participation to implied consent models. The literature highlights challenges in obtaining fully informed consent due to the complexity of genomic information, the potential for incidental findings, and the need for ongoing reinterpretation of results. The review also touches upon the ethical considerations of expanding newborn screening beyond treatable conditions, including the use of polygenic risk scores.

The paper employs a qualitative research methodology, drawing on a review of existing research projects on genomic sequencing in newborn screening. Seven such projects are detailed, covering aspects like the consent process, recruitment strategies, conditions screened, and methods for result reporting. The authors analyze the consent processes employed in these projects, noting the variations in timing of enrollment, methods of obtaining consent (written, verbal), and approaches to pre-consent counseling. They examine challenges faced by these projects, including the complexity of genomic information, the handling of variants of uncertain significance (VUS), and the resource implications of follow-up testing and counseling. The methodology also involves a conceptual analysis of public health ethics principles and their relevance to newborn screening and genomic sequencing. This conceptual approach informs the development of a novel 'right' of the asymptomatic at-risk child to be found, which is used to argue for a revised approach to consent.

The analysis of existing research projects revealed diverse consent practices, with variations in the timing of consent, methods of obtaining consent, and the level of information provided to parents. Challenges included the complexity of genomic information, the potential for incidental findings, and the resource implications of follow-up. The authors propose a novel 'right of the asymptomatic at-risk child to be found,' arguing that this right should be considered when designing consent processes for genomic newborn screening. They advocate for a shift towards 'appropriate consent,' a concept borrowed from pediatric clinical genomics, emphasizing the balance between promoting the well-being of the child and respecting parental autonomy. This approach acknowledges the limitations of obtaining fully informed consent in the context of population-level screening and recognizes the importance of public health goals and the need for widespread participation.

The authors argue that the 'right of the asymptomatic at-risk child to be found' justifies a public health approach to newborn screening that balances individual parental autonomy with the collective good. They propose that 'appropriate consent,' rather than fully informed consent, is a more suitable approach for genomic newborn screening, especially when employing virtual panels. This approach allows for a balance between providing sufficient information to enable informed decision-making and avoiding overwhelming parents with unnecessary details. The discussion considers the implications of this approach for health professionals and public health systems, highlighting the need for adequate training and resources to support effective communication and consent processes.

The paper concludes that genomic newborn screening, while offering significant potential benefits, presents substantial challenges regarding consent. The authors advocate for 'appropriate consent' as a pragmatic approach, balancing individual rights with the broader public health goals of identifying asymptomatic at-risk newborns. They emphasize the need for ongoing public communication and education to ensure that parents understand the aims and implications of genomic newborn screening and that health professionals are adequately trained to support informed decision-making. Future research should focus on developing and evaluating effective communication strategies and consent procedures for genomic newborn screening, considering the diverse cultural and socioeconomic contexts.

The study's reliance on a review of existing research projects limits its generalizability. The proposed 'right of the asymptomatic at-risk child to be found' is a novel concept that requires further ethical and legal analysis. The paper does not address the potential for administrative challenges associated with implementing 'appropriate consent' at a population level.