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NHS Wales Introduces Whole-Genome Sequencing for Critically Ill Newborns, Children


NEW YORK – NHS Wales, the Welsh branch of the UK National Health Service, this week announced the introduction of a whole-genome sequencing service for critically ill infants and children with unexplained diseases.

The offering, called the Wales Infants and Children's Genome Service, or WINGS, is the first of its kind in the UK and relies on the Illumina NovaSeq 6000 platform to deliver results. WINGS is being hosted by the Cardiff and Vale University Health Board and administered through itsAll Wales Medical Genomics Service in Cardiff, the Welsh capital.

Sian Corrin, consultant clinical scientist and rare disease lead at the Wales Medical Genomics Service, said the decision to implement whole-genome sequencing within the critically ill newborn and children cohort was made at a national level after the Welsh government decided to invest in the NovaSeq 6000 system. The San Diego vendor launched the benchtop system three years ago, which enables users to turn around multiple whole genomes in a 48-hour timeframe.

WINGS is the "first NHS-funded service within the UK" to implement this technology," Corrin said.

Francis Sansbury, consultant clinical geneticist and WINGS clinical lead, said that the service commenced in April and that eight patients to date have accessed the whole-genome sequencing test. He noted that the team at the All Wales Medical Genomics Service also discussed whether or not it would delay the launch due to the ongoing COVID-19 pandemic but decided to go ahead, "as there would still be patients who benefit from the service, with or without COVID-19."

Megan Fealey, NovaSeq implementation lead at the All Wales Medical Genomics Service, noted that getting the right IT infrastructure in place to manage whole-genome sequencing was a "considerable challenge."

"Also, due to the complexity of the test being delivered, patients and the public were integral to delivering this service and giving their feedback on aspects such as the patient information leaflet and the pre-test consent process," Fealey added. This was achieved through the Genomics Partnership Wales, which represents numerous organizations and stakeholders in the country, including the Cardiff and Vale University Health Board and the Welsh government, and acts as a "patient and public sounding board" in matters related to genomics.

Previously, the All Wales Medical Genomics Service relied on a variety of tests to diagnose the thousands of possible genetic diseases they have been faced with, and the majority of patients have had to wait years for a diagnosis, according to the team. Using a whole-genome sequencing approach, WINGS can flag variants of interest and refer to the literature to produce diagnoses faster, and in a way that might positively impact the patient's health.

Of those tested to date, half have already been diagnosed with a genetic condition, the team reported, which allowed clinicians to alter their prescribed treatments. According to Sian Morgan, consultant clinical scientist and head of the All Wales Medical Genomics Service's genomics laboratory, all data generated via the service is subject to the consent process given by patients, as well as the information governance and data security policies of NHS Wales and the Cardiff and Vale University Health Board.

Morgan noted that the service maintains in-house databases to facilitate diagnostic analysis but did not comment further on how the data might be used for additional clinical research.

While the Welsh service is the first NHS-funded service of its kind in the UK, it is not without precedent. Stephen Kingsmore, president and CEO of Rady Children's Institute for Genomic Medicine, helped implement a similar service at Children's Mercy Hospital in Kansas City, Missouri, before moving to Rady in San Diego. The service was later expanded to other hospitals in California, and users had similar gains in diagnostic rate. In the California hospitals that took part in the pilot, a diagnostic rate of 43 percent was reported in cases during the first two years.

Jana Jezkova, clinical scientist in medical genetics at the All Wales Medical Genomics Service, said that the team reviewed literature for previous studies of relevance, such as the work accomplished in the US, and "used this to inform development of our diagnostic service."

Paula Dowdy, Illumina's senior vice president and general manager for Europe, the Middle East, and Africa, said that the new WINGS offering evolved from a "long-standing relationship" with the team in Wales who "have great trust in the quality of Illumina's sequencing data."

She also noted that, as speed is important in making diagnoses of critically ill children, the team in Wales has been using Illumina's Dynamic Read Analysis for Genomics (DRAGEN) bioinformatics tool as a component of its analysis pipeline. Illumina gained DRAGEN through its 2018 acquisition of Edico Genome as part of a bid to build out its offering for supporting rare disease diagnostic sequencing.

According to Dowdy, Illumina's team in the EMEA region is working to "transform the outcomes of children in [intensive care units] through whole-genome sequencing and the rapid application of precision medicine where possible." She noted that within the UK, NHS England is also moving to whole-genome sequencing for rare diseases and cancer. She noted groups at the University of Exeter, Addenbrooke's Hospital in Cambridge, and the Great Ormond Street Hospital in London, already have piloted whole-exome sequencing for rare diseases in infants.

Dowdy added that groups in France, Holland, and Belgium have also been working to implement whole-genome sequencing for similar indications.