Newborn genome-sequencing unlocks the blueprint of health

This article is part of a fortnightly column exploring contemporary concepts and issues in genetics. Importantly, this could help healthcare workers make a fast and effective diagnosis, helped by the fact that sequencing is also a ‘single’ test, versus the multitude of tests performed as part of routine newborn-screening. The rarity of many genetic diseases, the narrow window of opportunity, the long diagnostic paths, and the unfortunate deaths of ill newborns makes it very difficult to document and understand these diseases. Researchers at the Rady Children’s Institute, led by Stephen Kingsmore, earlier showed that whole-genome sequencing could provide a much higher number of positive cases with a diagnosis, around 40%, with 26% of the diagnosed children benefiting from reduced severity of illness due to the rapid diagnosis and, consequently, a significant reduction in the cost of treatments. In 2021, Euan Ashley and team got there in just over 5 hours and 2 minutes Records apart, a large study with more than 100 children with different disease complexities, and published in 2019, suggested a median time for sequencing, clinical interpretation and reporting of just over 20 hours, suggesting the approach could have far-reaching impact in clinical settings.