Month: January 2022

In search of a diagnosis: deploying genomics at scale A substantial number of children have a disease identified as “rare” without having any kind of causative diagnosis (autism is not a causative diagnosis!). In a UK pilot study, 2,183 proband children were referred for exome sequencing with additional sequencing of family members if warranted. The overall diagnostic yield was surprisingly high, about 25% overall. Of the approximately half of probands who had neurological or sensory disorder, an explanatory diagnosis was reached in almost 40% of the cases. Two thoughts: 1)