Undiagnosed Diseases Network diagnoses 379 participants through data reanalysis and case matching
The Undiagnosed Diseases Network solved 379 of 1,713 cases between May 2017 and June 2023, reaching a 22.1 percent diagnostic rate. Reanalyzing sequencing data yielded the largest share of answers, with case matching serving as a supporting strategy in 25.6 percent of solved cases. In total, 235 diagnoses, or 59.9 percent, required research efforts outside standard clinical care. Over the study period, the proportion of participants with prior sequencing grew from 40.2 percent to 75.0 percent.
Systematic data reanalysis and case matching help identify rare conditions when routine testing fails to provide answers.
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].