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Healthy newborns offered whole genome sequencing to screen treatable rare genetic disorders

Genomics England have partnered with the NHS  to implement the Newborn Genomes Programme. Whole genome sequencing (WGS) will be used to screen 200 treatable rare genetic disorders in 100,000 newborns in England. This will be the first time that WGS will be made available to healthy babies through the NHS.

Diagnosis of rare genetic diseases is a lengthy process

Most rare genetic diseases have an early childhood onset. Thousands of children in the UK are affected every year. However, the diagnostic process is lengthy and additional damage can occur during this time. 

The study, which is believed to be the largest study of its kind ever conducted, will assess the feasibility of using WGS to diagnose rare genetic conditions. If successful, it will be implemented across the country.

Dr Richard Scott, Chief Medical Officer for Genomics England, said “Our goal is… to do more for the thousands of children born every year in the UK with a treatable genetic condition. We want to be able to offer speedy diagnosis, quicker access to treatment, and better outcomes and quality of life.”

A new rapid approach

WGS will rapidly speed up the diagnostic process. This will make a huge difference to both the child who is affected and the parents who are enduring the uncertainty.

Sarah and Rob Everitt are the parents of Owen, who is 9 years old and was diagnosed with an extremely rare genetic condition using WGS.

Rob described the difference it would have made to have WGS from the beginning. He said, “It would have done away with a lot of the stress and uncertainty, because for several years the doctors couldn’t tell us what to expect – whether Owen was going to walk or talk, or whether his condition would get worse.”

Sarah expressed the relief of getting the diagnosis. She said, “It was like winning the lottery….because we knew there was a treatment pathway; we knew we could get him support and he could attend a mainstream school. [The screening programme] is going to change the face of medicine….being able to treat all these unknown medical conditions, or at least to have them explained.”

Quicker diagnosis means quicker treatment 

The list of genetic disorders to be screened for is currently being finalised. It is critical to emphasise that all of the genetic conditions covered are treatable, which ensures a positive clinical outcome.

The screening programme provides tremendous hope and will alleviate the seemingly endless anxiety and anguish that parents experience when their child is ill and no one knows why. If successful, rare genetic disorders will be treated and diagnosed more quickly and, as a result, will receive exceptional clinical management.