Laboratory testing

Thousands to benefit from first ever national genetic testing service

The NHS are set to be able to diagnose critically ill patients earlier than ever thanks to the launch of the world’s first national genetic testing service.

The new service was announced by NHS chief executive Amanda Pritchard at the inaugural NHS Genomics Healthcare Summit, where she described the launch of the ground-breaking service as a “new era of genomic medicine” as well as hailing it as a “revolutionary” advancement that will ultimately benefit thousands of severely ill children and babies every single year.

Until now, seriously unwell children and babies had to undergo a series of comprehensive and time-consuming tests with results often taking weeks to come back – but now, this new service will allow clinicians to get those results back in days, not weeks, meaning they can treat patients earlier and potentially save more people from more than 6,000 different genetic diseases.

Whole genome sequencing works by identifying changes in the genes of a severely ill patient, enabling health professionals to expedite diagnoses, which ultimately opens up the possibility for more patients to be cured from their condition completely.

The service will also give patients with more complex conditions the best chance possible of reducing their complications sooner, subsequently improving their quality of life and their overall health outcomes.

Based in Exeter and launched as part of the NHS Genomics Strategy, this “trail-blazing” service is yet another example of the NHS trendsetting and leading the world in harnessing the potential of genomics.

Amanda Pritchard, NHS chief executive, said: “This global first is an incredible moment for the NHS and will be revolutionary in helping us to rapidly diagnose the illnesses of thousands of seriously ill children and babies – saving countless lives in the years to come.

“I have seen how these simple blood tests can change the lives of babies and their families and being able to expand this further, is wonderful for children and their families.

“When a child comes to intensive care timing is everything, so finding the right diagnosis and treatment as quickly as possible is absolutely vital, and I am delighted that the pioneering work of the NHS’ Genomic Medicine Service is transforming the way we diagnose and treat patients in England.

“The NHS is recognised worldwide as a world leader in genomics, and this new service proves just that – it also builds on our Long Term Plan commitment to deliver the most medically advanced services possible for all our patients – boosting the life chances of thousands across the country.”

One in 17 people develop a rare disease during their lifetime in England and more than 80% of these are genetic – approximately 75% of rare genetic conditions will present when a person is still very young, with these instances being responsible for nearly a third of all neonatal intensive care deaths.

In a bid to help tackle this, the NHS became the first national health system globally to routinely offer whole genome sequencing for children and some adults with certain types of cancer in 2021.

This all culminated with yesterday’s announcement and launch of the National Rapid Whole Genome Sequencing Service, which will be based out of the South West NHS Genomic Laboratory Hub at Royal Devon University Healthcare NHS Foundation Trust.

Dr Emma Baple, who runs the National Rapid Whole Genome Sequencing Service, said: “The rapid whole genome testing service will transform how rare genetic conditions are diagnosed.

“We know that with prompt and accurate diagnosis, conditions could be cured or better managed with the right clinical care, which would be life-altering – and potentially life-saving – for so many seriously unwell babies and children.

“This new service, which has been over five years in the making, is a huge step-change in what we can do for these children and their families, and it is an absolute privilege for us to play a part in helping to give children up and down the country the best care possible.”

Yesterday also saw the roll out of the aforementioned NHS Genomics Strategy, which is a five-year plan to upscale the use of genomic medicine within the NHS.

The key commitments in the plan include the development and establishment of an NHS GMS Ethics Advisory Board, the expansion of genomic testing, as well as upskilling the workforce to ensure the benefits that genomics offer are realised across the whole NHS.

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