Genetic and Congenital

New program may improve rare disease diagnostics

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A new interdisciplinary platform may help diagnose rare diseases in adults with previously unexplained medical problems, according to a study.

The Undiagnosed Disease Program utilizes a multidisciplinary clinical approach, genomic technologies, and collaboration with research facilities to help diagnose patients in which an underlying rare disease is likely.

During the 5-year study period, 692 patients were referred to the program and 329 (48%) were evaluated.

A definite diagnosis was made in 18% of cases, of which 88% had a genetic origin, leading to gene specific genetic counseling. Of the genetic diagnoses, 65% were made through whole exome sequencing.

There was a mean time of 19 years between symptom-onset and diagnosis.

“Key observations included novel genotype-phenotype correlations, new variants in known disease genes, and the identification of three new disease genes,” the study authors noted.

In 13% of cases with a genetic origin identifying the molecular cause was associated with therapy recommendations.

Schuermans N, Hemelsoet D, Terryn W, et al; for UD-PrOZA. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA). Orphanet J Rare Dis. 2022;17(1):210. doi: 10.1186/s13023-022-02365-y. PMID: 35606766.