Newborn Genomes Program: Whole genome sequencing for 100,000 UK babies leads to test for 200 disorders

Every year, several thousand children in the UK are affected by rare genetic diseases, but families often endure years of tests and uncertainty before they receive a diagnosis, as symptoms can develop slowly. By the time a diagnosis is confirmed avoidable damage may have been done.

The list of genetic conditions which will be included in the new screening programme has yet to be finalised, but each of them will have a treatment which could alleviate the disorder.

Whole genome sequencing may also identify conditions that occur only later in life, such as some cancers.

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