New national genetic testing service launched by NHS to transform neonatal and paediatric patient care

A new national genetic testing service has been launched to benefit children and babies with rare diseases.

The National Rapid Whole Genome Sequencing Service will be based in the south-west NHS genomic laboratory hub at the Royal Devon University Health Care NHS Foundation Trust.

It will now be able to “rapidly process DNA samples of babies and children in the NICU”, rather than the current system which can take weeks for test results to come back, the trust said.

Now a simple blood test will provide results back in days, said to support clinicians to diagnose diseases and conditions and offer life-saving treatment and early interventions for more than 6,000 genetic diseases.

Speaking of the new service, NHS Chief executive Amanda Pritchard said “This global first is an incredible moment for the NHS and will be revolutionary in helping us to rapidly diagnose the illnesses of thousands of seriously ill children and babies.”

It launched as part of the NHS Genomics strategy at the inaugural Genomic healthcare summit held in London and harnesses the potential genomic medicine has in transforming patient care.

Discussing the impact the testing has on how patient care can be transformed, Amanda added “it also builds on our Long Term Plan commitment to deliver the most medically advanced services possible for all our patients — boosting the life chances of thousands across the country.”