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Sequence every newborn’s DNA? Despite obstacles, UK pushes ahead

Date: 6.10.2021 

„Five to 7% of people are born with a rare disease, and many could be treated very early in their life” if the disease is detected, says Richard Scott, chief medical officer of Genomics England, a government-funded company. Genome sequencing could help. “The costs have come down so much that we’re now at a tipping point where it’s wrong not to.”

Kredit: jurvetson / Wikimedia Commons.Genomics England hopes to test that promise in a pilot research project involving up to 200,000 babies. Though it would initially look for the genes of rare childhood diseases, it would also store the genome data for later, when it could help predict drug sensitivities and risks for adult diseases such as cancer.

Some U.S. researchers are also eager to add genomewide sequencing to newborn screening. One impetus is to find babies who could benefit from a growing wave of gene-based treatments for devastating, often fatal childhood diseases, such as Sanfilippo syndrome, a metabolic disorder that causes brain damage.

But the U.K. program has an advantage: The country’s national health care system already uses whole genomes in clinical care. In the United States, sequencing every newborn’s genome is probably still a long way off. Even with inexpensive technology, newborn genome screening on a countrywide scale could take complex infrastructure and hundreds of millions of dollars, if not billions.





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