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.
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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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