Medical Xpress June 13, 2022
European Society of Human Genetics

Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care. But whole genome sequencing (WGS), carried out rapidly, can provide an accurate diagnosis and therefore lead to improvements in their clinical care. Results from an Australian study of such a use of WGS presented to the annual conference of the European Society of Human Genetics on June 12 show how the integration of genomic, transcriptomic, and functional data can accelerate rare disease diagnosis on a national scale.

“The evidence of diagnostic, clinical, and family benefit of rapid genomic testing in critically ill children is overwhelming. This type of...

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