AJMC July 12, 2023
More than 4 in 10 participants received a rare disease diagnosis as a result of the analysis.
A new analysis of children with difficult-to-diagnose genetic disorders shows that a genome-driven approach to diagnosis, paired with detailed phenotyping, can significantly improve the likelihood of a diagnosis compared with the previous standard of care.
The report, published in The New England Journal of Medicine, involved more than 13,500 families from the United Kingdom and Ireland.1 In the study, about 41% of probands—the first person in a family identified as having a genetic disorder2— received a diagnosis as a result of the analysis.
As genomic sequencing has become more widely available, it has become an important tool for identifying novel molecular causes for...
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