NHS DNA testing to fast track diagnosis for ill children

The NHS in England is providing a new form of DNA test capable of rapidly diagnosing rare diseases for critically ill babies and children.

Having pledged in the NHS Long Term Plan to use world leading technologies to improve care for the sickest infants, NHS England has announced that 80 babies and children have received this new test, with almost half being given a diagnosis for their rare disease.

Known as ‘whole exome sequencing’, the technique doubles the chance of a diagnosis and can reveal what is wrong with patients in days rather than weeks, reducing waits for worried families. It is believed that up to 700 babies and children will benefit each year from DNA mapping.

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 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.

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.

“In the last year alone, scores of patients have received game-changing new treatments such as CAR-T therapy and targeted radiotherapy at the NHS’s new £125 million Proton Beam centre. Over the next decade the NHS will continue to expand the range of personalised, precision medicines, including rolling out genomic testing to all people with rare diseases and patients with cancer.”