Individualized reanalysis diagnoses 40 percent of patients left undiagnosed by exome or genome tests
At one Undiagnosed Diseases Network site, 77 of 192 patients with non-diagnostic exome or genome sequencing received 80 diagnoses in all. Research reanalysis of raw data from prior exomes and UDN genomes produced 54 percent of them. Most causal variants were coding, at 88 percent. The authors say 72 percent of genetic diagnoses should have come from the earlier exome. The prior laboratory had not prioritized novel gene variants (53 percent), or had passed over variants in known disorder genes because the phenotype looked like a mismatch (17 percent).
The paper reports that an individualized approach beat reflexive genome sequencing, and that most later diagnoses came from variants an exome review could have prioritized.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].