NHS to deliver world-first national genetic screening service for children 

NHS to deliver world-first national genetic screening service for children 
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The NHS will introduce a groundbreaking genetic screening service hailed as the start of a “new era of genomic medicine”. 

At the first-ever NHS genomics conference in England, NHS Chief executive Amanda Pritchard announced a national genetic screening service to diagnose severely ill children and babies within days opposed to weeks.  

The new service will be based in Devon and will rapidly process DNA samples of babies and children who end up seriously ill in hospital or who are born with a rare disease, such as cancer. The new genetic screening service will benefit over 1,000 infants and children in intensive care yearly who previously required extensive levels of tests with results sometimes taking weeks to come back. 

Rapid genetic screening for children

The rapid genetic screening will use simple blood tests and once they are processed, the service will give medical teams from across the country results within days. This means that the affected children can begin lifesaving treatment plans for more than 6,000 genetic diseases.  

The service utilises whole genome sequencing which works by looking for changes in genes in the seriously ill child’s DNA. This can help rapidly determine a diagnosis, which could lead to thousands more patients curing their condition.   

Furthermore, other patients with more complex illnesses will also have the best chance to receive treatment sooner and reduce long-term complications.  

The NHS Genomics Strategy

The genetic screening service will be based in Exeter as part of the NHS Genomics Strategy which was launched at the  Genomics Healthcare Summit in London.  

Dr Emma Baple, who runs the National Rapid Whole Genome Sequencing Service, said: “The rapid whole genome testing service will transform how rare genetic conditions are diagnosed. 

“We know that with a prompt and accurate diagnosis, conditions could be cured or better managed with the right clinical care, which would be life-altering — and potentially life-saving — for so many seriously unwell babies and children. 

“This new service, which has been over five years in the making, is a huge step-change in what we can do for these children and their families, and it is an absolute privilege for us to play a part in helping to give children up and down the country the best care possible.” 

The NHS chief executive is expected to announce the launch of the NHS’ first Genomics Strategy - a five-year plan to step up the use of genomic medicine within the NHS. The plan aims to deliver state-of-the-art benefits to patients in all areas of the NHS.  

Key commitments outlined in the plan include: 

  • The establishment of an NHS GMS Ethics Advisory Board to consider the introduction of new technologies, return of results, data protection and genomic research. 
  • The expansion of genomic testing into the NHS diagnostic infrastructure for genomic testing. For example, exploring the role that Community Diagnostics Centres could play alongside the NHS GMS across several areas, including the collection of samples from family members for inherited disease genomic testing. 
  • Upskilling the NHS workforce to help embed the benefits of genomics across the NHS – including the development of a Genomic Training Academy.  


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