Wales first in UK for pioneering DNA test
CRITICALLY-ILL babies and children with unexplained diseases in Wales are set to become the first in the UK to routinely receive a pioneering DNA test.
The Wales Infants and childreN’s Genome Service (Wings), hosted by Cardiff and Vale University Health Board, forms part of a national programme which will utilise world-leading technology to provide doctors and families with vital diagnostic information.
The Welsh Government has provided funding for the Illumina NovaSeq 6000 technology which has next generation sequencing (NGS) capacity and is capable of sequencing multiple human genomes in under 48 hours.
With approximately 6,000 to 8,000 known genetic diseases, the traditional approach to diagnosing rare conditions required running multiple tests, with the majority of patients having to wait years for a successful diagnosis.
By processing such huge amounts of genetic data in such a short time-frame, clinical professionals can quickly receive relevant data for improved diagnoses and patient care.
Len Richards, chief executive for Cardiff and Vale University Health Board, said: “The launch of Wings is an exciting step forward for advancing our capacity to deliver precision medicine in Wales.
“The whole genome sequencing service is able to rapidly diagnose thousands of rare neurological, metabolic and other genetic diseases in a patient’s DNA thereby offering significantly improved patient management, shorter hospital stays, fewer invasive procedures and significantly improved patient outcomes.”
Health Minister Vaughan Gething added: “I am incredibly proud that Wales is hosting the pioneering Wales Infants and Children’s Genome Service (Wings).
“Wings will play a major role in providing the right diagnosis, treatment or care pathway at the right time, helping shorten the diagnostic odyssey for children with undiagnosed genetic conditions, enabling clinicians, parents and carers make evidence informed decisions and reducing the anxiety of uncertainty.
“This has only been possible thanks to collaboration between doctors, scientists, bioinformaticians and families combined with the support of Welsh Government and will significantly improve patient care for the people of Wales.”
Cardiff and Vale UHB claims early results for the service are “extremely promising”, with half of the babies and children tested to date having been found to have an underlying genetic condition which has changed their care and demonstrates the role of precision medicine in delivering better patient outcomes.