UK: Newborns will receive Rapid Genetic Disease Diagnosis

HEALTHCARE

A new project to sequence the entire DNA of 100,000 newborns will allow for the diagnosis and treatment of rare genetic disorders in newborns. Thanks to this project, hundreds of families in England will not have to wait months or years to find out why their children are sick.

The project is the first time the National Health Service (NHS) has offered healthy babies whole genome sequencing (WGS). Additionally, the project will screen for approximately 200 disorders, all of which can be treated. It is believed that the Newborn Genome Programme, which will begin in 2023, will be the largest study of its kind in the world. If it is successful, it may be implemented throughout the United Kingdom.

The majority of the approximately 7,000 single gene disorders occur in early childhood. In the United Kingdom, thousands of children are afflicted by rare genetic diseases each year. However, systems can develop slowly, so families often have to wait years for a diagnosis and treatment.

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The project, according to Genomics England, will find hundreds of children with genetic disorders who would have been missed by the current newborn screening process. According to Dr. Rich Scott, chief medical officer of Genomics England, the organization’s objective is to do more for the thousands of children born annually in the UK with a genetic condition that can be treated.