DNA testing to fast track diagnosis for critically ill infants

The NHS in England is providing a new form of DNA test capable of rapidly 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.

Eighty babies and children have received this new test, with almost half being given a diagnosis for their rare disease. The technique, known as ‘whole exome sequencing’, doubles the chance of a diagnosis and can reveal what is wrong with patients in days rather than weeks, reducing waits for worried families.

Just a year on from the NHS Long Term Plan committing to harness the power of DNA mapping, patients in England are among the first in the world to be offered the tests routinely. Up to 700 babies and children will benefit each year.

Simon Stevens, chief executive of NHS England, 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.

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.  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.