Early results from a study of newborn screening methods show that DNA analysis detects many more serious preventable or treatable diseases than standard newborn screening. The study, published today in the journal JAMA, is one of the first large-scale studies in the world to use genome sequencing as a method of newborn screening and is the first to publish preliminary results.
Belén Pérez - cribado genético
Belén Pérez González
Professor of Biochemistry and Molecular Biology at the Autonomous University of Madrid and deputy director of the Centre for Molecular Disease Diagnosis at the Centre for Molecular Biology (CBM-UAM-CSIC).
A team from the American GUARDIAN (The Genomic Uniform-screening Against Rare Disease in All Newborns) programme publishes the first results of genome sequencing of newborns as a complement to the current neonatal screening programme and extension to pathologies that currently have no detectable biomarker in dried blood samples. A predefined set of hundreds of genes related to severe, treatable childhood-onset diseases have been analysed in more than 4,000 newborns of different races and ethnicities, and the results presented demonstrate clinical utility related to improved detection of pathologies that would otherwise go undetected until the onset of symptoms.
Although limitations must be overcome, such as scaling to thousands of newborns in adequate time to ensure implementation of effective therapy, the findings presented support the hypothesis that genomic sequencing of newborns can significantly and equitably improve the diagnosis and treatment of newborns.
Sixty years after the successful implementation of early life screening for the first genetic disease, phenylketonuria, and its gradual extension to other pathologies, we are facing a new era in preventive medicine thanks to genomic sequencing aimed at the detection of hundreds of treatable pathologies.
- Research article
- Peer reviewed
- People
Ziegler et al.
- Research article
- Peer reviewed
- People
