RE: Austrian Distributor Info13 Dec 2022 21:10
As part of the Newborn Genomes Program, which will commence next year, about 100,000 newborns will be sequenced. Based on the outcome of the study, UK policy makers will then decide if it makes sense to introduce whole-genome sequencing of newborns across the country as part of routine care for infants.6 hours ago
Genomics England, NHS to Lead £105M UK Study with Aim to Sequence 100K Newborns
Dec 13, 2022 | Justin Petrone
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NEW YORK – The UK Department of Health and Social Care announced this week that it will invest £175 million (about $215 million) in genomic research, made in part to fulfil the goals of the country's Genome UK national genomic healthcare strategy, announced in September 2020.
Of the funding, £105 million will support a research study to improve the diagnosis of rare genetic diseases in newborns. The UK government said it will also invest £26 million to support cancer genomics research, and an additional £22 million to improve genomic data diversity.
Genomics England will lead the newborn screening study in partnership with the UK's National Health Service. The investigators' aim is to assess the effectiveness of using whole-genome sequencing to find and treat rare conditions in infants. As part of the Newborn Genomes Program, which will commence next year, about 100,000 newborns will be sequenced. Based on the outcome of the study, UK policymakers will then decide if it makes sense to introduce whole-genome sequencing of newborns across the country as part of routine care for infants.
Richard Scott, chief medical officer of Genomics England, said in a press briefing this week that the publicly funded company had not yet determined what sequencing platforms it will use in the Newborn Genomes Program when asked by this publication.
"We are working through the right approach, both in terms of technology and, for example, location of instruments and so on, but that is something we haven't yet fixed on," said Scott. He added that Genomics England currently relies on short-read and long-read genome sequencing technologies, with its "mainstay for rare disease diagnostics" being short-read technologies.
Genomics England and Illumina announced a deal in January 2020 to sequence 300,000 people in the UK, with a specific focus on rare diseases and cancer. Under the terms of that agreement, Illumina would sequence the samples in its Cambridge, UK-based facility using the NovaSeq 6000.
Scott made clear in the call though that the sequencing setup for the Newborn Genomes Program is "something we are working through" and said Genomics England will discuss it further once it "works through the right model and the right approaches over the next months."
Recruitment for the program, he noted in the briefing, should start by the end of 2023. It will carry on for two years, and then the investigators will start reporting back research findings. Ultimately, it will be up to the NHS to look at the
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