NHS England is to use DNA testing for babies and children to accelerate their diagnoses and improve their care.
A specific test has been introduced that examines a large proportion of patients’ DNA (rather than, for example, specific genes in more conventional tests), and can diagnose multiple conditions. Of the 80 critically ill children to receive the test so far, almost half have been diagnosed with a rare disease.
The NHS England press release makes clear that the test will be available for up to 700 babies and children each year.
NHS England Chief Executive Simon Stevens said:
“Once again the NHS is at the forefront of the genomic revolution with patients in England the first to be routinely offered this cutting edge treatment as part of the Long Term Plan.
“This quick and accurate new test means rapid diagnosis and reassurance for families when they need it most and give babies and children the best chance of a healthy and happy life.”
The NHS explains the test in more detail:
“Pioneered as an NHS test by scientists in Exeter, exome sequencing looks for and can identify a range of potentially life-threatening conditions all in one go, rather than standard tests which usually are limited to looking for specific conditions.
“The tests, delivered from the South West Genomic Laboratory Hub, may more than double the chances of successful diagnosis and are faster than standard practice where multiple tests may be performed one at a time, giving parents of unwell children results in days rather than waiting months.
“The testing can detect rare neurological, metabolic or other conditions by identifying genetic mutations and helps to show which patients are unlikely to respond to particular treatments – saving unnecessary medication and potential side effects.”
Read the press release and find out more here.