STAT November 10, 2021
When the U.K.’s National Health Service started to use whole genome sequencing, doctors were able to determine diagnoses for more people with rare diseases — including some for whom other genetic tests had failed to turn up an answer, researchers reported Wednesday.
The new paper, published in the New England Journal of Medicine, described the results of a pilot study from what’s known as the 100,000 Genomes Project. Whole genome sequencing led to diagnoses for 25% of the thousands of participants in the study thought to have a rare genetic condition — 14% of whom would not have been diagnosed by different methods, the scientists said.
The study echoes what other research has found about the power of whole genome...
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