A new article has been published in the European Journal of Human Genetics exploring the ethical and legal landscape of introducing genomic screening into existing newborn bloodspot screening programs. The authors pay particular attention to the idea of consent, and the delicate balance with which i...

The WHO/World Health Assembly adopts resolution A77/A/CONF./5 “Accelerate progress towards reducing maternal, newborn and child mortality in order to achieve Sustainable Development Goal targets 3.1 and 3.2” June 21, 2024

A new article has been published in Rare Disease and Orphan Drugs Journal, providing an overview of the different methods for estimating the prevalence of rare diseases (RD). Most RD lack reliable epidemiological data, which poses challenges for therapeutic and management options. Furthermore, epide...

The importance of evidence-based screening programmes Recently, an article was published in The Lancet discussing the importance of evidence-based approaches in population screening, particularly when introducing genomic analysis. The authors draw on their experiences working in the genomics field i...

A new article in the Journal of Inborn Errors of Metabolism and Screening uses the national newborn screening (NBS) program in Vietnam as an example of the potential benefits and challenges of using economic evaluations to make decisions about the content of such programs. Compared to high-income co...