Exeter, Devon UK • Feb 27, 2024 • VOL XII

Exeter, Devon UK • [date-today] • VOL XII
Home ScienceHealth Genomic sequencing could lead to genetic testing available on the NHS

Genomic sequencing could lead to genetic testing available on the NHS

Daisy Scott, Online Deputy Editor, discusses a study that will sequence the genome of 100,000 new-born babies which could lead to more efficient genetic testing for all new-born babies across the country.
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Genomic sequencing could lead to genetic testing available on the NHS

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Daisy Scott, Online Deputy Editor, discusses a study that will sequence the genome of 100,000 new-born babies which could lead to more efficient genetic testing for all new-born babies across the country.

There are currently plans for 100,000 new-born babies to have their whole genome sequenced in a research programme, costing £105 million, which could later lead to a full-scale neonatal screen to detect rare genetic conditions. The two-year project will begin late next year, and the aim of the study is to examine the potential of using genomics to significantly increase the diagnostics of genetic conditions.”

Currently, all babies born in the NHS are offered a “heel prick test” when they are either four or five days old. This test can only detect nine serious conditions (including sickle cell disease and cystic fibrosis) whilst the hope is that the new test could extend the number of treatable conditions that could be detected shortly after birth to about 200 (many of these are extremely rare – including genetic thyroid hormone conditions which can cause developmental and learning difficulties). 

Hope is that the new test could extent the number of treatable conditions that could be detected to about 200

The new service, which will be based in Devon, will be able to rapidly process DNA samples from babies and children who end up seriously ill in hospital/ are born with a rare disease. If parents are selected to take part in the study, they will be approached mid-pregnancy as the test will involve much more than a simple heel prick. 

One of the aims of the test is to end the “diagnostic odyssey” which many parents are put through if young children develop a mental or physical disorder. Richard Scott has said that without genomic analysis it typically takes four or five years. 

Whole genome sequencing involves reading all three billion base pairs that makes up a babies’ genetic code. It is a comprehensive method for analysing entire genomes. It looks for changes in genes in the seriously ill child’s DNA.

Genomics England has listed several potential benefits that this process could bring for many children

  • Early diagnosis and care for childhood-onset rare genetic conditions – 100,000 babies’ genomes will be sequences and analysed for a set of actionable genetic conditions which may affect their health in early years. 
  • Enabling research and new treatments for NHS Patients – Babies’ genomes will be de-identified and added, alongside their health data to the National Genomic Research Library. This will then allow researchers to improve their understanding of health and disease. 
  • Exploring the potential of a lifetime genomic record – Storing babies’ genomes securely could allow them to be reanalysed, potentially enabling access to new developments in genomics throughout their lifetime. For example, if a child who had their genome sequenced falls sick when they are older, there may be an opportunity to use their stored genetic information to help diagnose them. 


A public consultation by Genomics England has indicated overall support for the use of genomics in new-born screening, providing the right safeguards are in place. 

Steve Barclay, Health and Social Care Secretary, has said “The NHS is a world leader in genomics and by investing in this cutting-edge we’re cementing our status as a life sciences superpower.” 

The NHS is a world leader in genomics and by investing in this cutting-edge we’re cementing our status as a life sciences superpower

Richard Scott, chief medical officer of Genomics England, a government-owned company, has said “Generating this evidence will allow policymakers to make well informed decisions on whether and how whole genome sequences could be rolled out as a part of a future new-born screening programme.” 

“Using whole genome sequencing to screen new-born babies is a step into the unknown. We must not race to use technology before both the science and ethics are ready.” Said Frances Flinter, a clinical geneticist at Guy and St. Thomas’ NHS Foundation Trust. 

Although this is just the first signs of a new test that could help early diagnosis of serious diseases, there are several rounds of tests that need to be done to see if it is viable. 

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