A new form of DNA testing “whole-exome sequencing” for critically ill babies and children on the NHS

The NHS in England is providing a new form of DNA test capable of quickly diagnosing rare diseases for critically ill babies and children, as part of its Long Term Plan to use world-leading technologies to improve care for the sickest infants.

The technique is known as 'whole-exome sequencing,' which increases the chance of diagnosis and can detect what's wrong with patients in days rather than weeks, decreasing the waits of worrying families.

This new test was carried out on 80 babies and children, almost half of whom were diagnosed with their rare disease. Every year, up to 700 babies and children will benefit.

This past year has seen the roll-out of a new Genomic Medicine Service across the NHS, building on the successes of the 100,000 Genomes Project and helping keep the UK at the forefront of the genomic revolution. The introduction of rapid exome sequencing will complement the extensive range of cutting edge Genomic technologies and testing that will be available on the NHS to deliver improved patient care.

Key achievements by the NHS over the past year to roll out a national genomic medicines service have included:

• Setting up a national genomic testing network of seven Genomic Laboratory Hubs working together across England to introduce whole genome sequencing and other genomic tests into routine care;
• Mandating the use of a national genomics test directory to ensure equity of access to all types of genomic testing across the country;
• Showing how genomics can help us personalize and target treatments and interventions
• Developing, with Health Education England, a genomics education program to help ensure the NHS workforce is ready for these changes.

See the full details here.

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