Highlights
Every baby deserves access to genetic screening
From the article: "Nation-wide genetic screening, available to all newborns, could in principle also be a tool to narrow the disparities that exist in today’s healthcare systems, providing to every family information about their baby’s health, regardless of socioeconomic and geographical factors. Designing genomics-based newborn screening programs that bring benefit equitably to the population is, however, an extremely complex task, also given the costs, and there is an urgent need to generate robust evidence on the potential benefits and harms of the approach, at the population level, before it can be implemented more widely. "
Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
From the abstract: " Newborn screening (NBS) programmes are highly successful, trusted, public health interventions. Genomic sequencing offers the opportunity to increase the benefits of NBS by screening infants for a greater number and variety of childhood-onset conditions. This study aimed to describe who needs to do what, when, and for whom to deliver genomic newborn screening (gNBS) and capture perceived implementation barriers and enablers. ‘Key informants’ (individuals involved in the delivery of NBS) were interviewed. "
The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges
From the abstract: "Genomic screening could offer opportunities for lifelong care beyond the newborn period. For genomic newborn screening to be effective and ready for routine adoption, it must overcome barriers such as implementation cost, public acceptability, and scalability. Metabolomics approaches, on the other hand, can offer insight into disease phenotypes and could be used to identify known and novel biomarkers of disease. Given recent advances in metabolomic technologies, alongside advances in genomics including whole-genome sequencing, the combination of complementary multi-omic approaches may provide an exciting opportunity to leverage the best of both approaches and overcome their respective limitations. These techniques are described, along with the current outlook on multi-omic-based NBS research. "
Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)
From the abstract: "Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. "
