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Point of the Program

Some scientists have questioned the design of a UK newborn sequencing program, the Guardian reports. They say, it adds, that the program's focus appears to be on generating a valuable dataset instead of on helping diagnose rare disease.

Matt Hancock, the former health secretary, first mentioned plans to conduct widespread newborn sequencing in 2019, saying at the time that it would bring in "predictive, preventative, personalized healthcare," as Wired reports.

Wired adds that Genomics England has recently received funding for a pilot of the Newborn Genomes Programme, which would include between 100,000 and 200,000 infants. It adds that the program, which will be integrated into the National Health Service, is to focus on identifying actionable genetic conditions, particularly childhood-onset ones. De-identified data from the program will also be added to the UK's National Genomic Research Library, it adds.

However, the University of Oxford's Anneke Lucassen tells the Guardian that if the program's focus was on identifying rare diseases, there are easier and cheaper ways of doing so. She adds that she's not opposed to the program but says that it appears instead to be focused on building the UK genomics industry and a research resource and that that should be clear to the public.

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