Last November, a British research team published a study that offered a tantalising preview of how next-generation genomic sequencing promises to transform medicine – and benefit millions of patients with a wide range of diseases.
The study was the first to emerge from the 100,000 Genomes Project, which was established in 2013 with the goal of sequencing whole genomes from 100,000 NHS patients. By analysing the genes of 4,660 participants in that project, researchers were able to diagnose rare diseases in 25% of patients, 14% of which were discovered in areas of the genome that might have been missed by more conventional testing methods.
The study also uncovered three new disease-related genes and 19 previously uncovered associations between genes and rare diseases, the researchers reported in the New England Journal of Medicine. Notably, the study also found that 25% of the diagnoses had immediate clinical ramifications for patients and their families.
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