Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)

May 2022 in “ Orphanet Journal of Rare Diseases ”

Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, Jan De Bleecker, Patrick Santens, Paul Boon, Guy Lochard, Tessa Kerre

whole exome sequencing genotype-phenotype correlations genetic origin disease genes molecular cause therapeutic recommendations gene-specific genetic counseling actionable secondary findings WES

TLDR The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

The Undiagnosed Disease Program (UD-PrOZA) at Ghent University Hospital in Belgium, established in 2015, has been successful in diagnosing rare diseases in adults. From 2015 to 2020, 692 patients were referred to the program, with 329 (48%) accepted for evaluation. A definitive diagnosis was made in 18% (60 out of 329) of the cases, with 88% (53 out of 60) of these diagnoses having a genetic origin. Whole exome sequencing (WES) was used to make 65% (39 out of 60) of the genetic diagnoses. The average time between symptom onset and diagnosis was 19 years. The program also identified new genotype-phenotype correlations, new variants in known disease genes, and three new disease genes. In 13% (7 out of 53) of cases, identifying the molecular cause led to therapeutic recommendations, and in 88% (53 out of 60), gene-specific genetic counseling was possible. Actionable secondary findings were reported in 7% (12 out of 177) of the patients in which WES was performed.

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Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)

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