Genomic R(E)volution in Newborn Screening Tracing the Past Shaping the Future

Abstract

The history of newborn screening spans more than 60 years, originating with the development of a universal screening test for phenylketonuria by Robert Guthrie. Today, newborn screening is a highly effective tool for the early detection of various rare diseases that, if left undetected and untreated, can lead to a long diagnostic process, irreversible organ damage, physical and mental disabilities, diminished quality of life, and even premature death. In this episode of GeneTalk, we will delve into the evolutionary trajectory of newborn screening, uncover significant milestones in its history, and highlight the profound impact of tandem mass spectrometry in the early 2000s that revolutionized disease detection capabilities. Advances in molecular genetics, particularly the application of whole-genome sequencing (WGS) to analyze human DNA, now offer a novel approach to screening for treatable childhood genetic disorders, especially in cases where biochemical markers are absent. This allows for great flexibility in expanding disease panels, keeping pace with the ever-growing understanding of genetic disorder etiology, phenotypic diversity, pathophysiology, and the availability of mechanism-of-action therapies. Despite its numerous advantages, the implementation of genomic newborn screening also presents significant challenges and raises unanswered questions concerning ethical, legal, social, and technical aspects. Engaging in public discourse regarding the possibilities and limitations of a genomic newborn screening program is therefore essential in fostering understanding and gaining widespread acceptance of such an approach.Join us as we delve into the captivating history, remarkable advancements, and important considerations surrounding newborn screening. Through this exploration, we aim to shed light on the profound impact it has had on healthcare and the potential it holds for further enhancing early disease detection and intervention.