A prototype of a Gaucher disease point-scoring system (PSS), originally established by the Gaucher Earlier Diagnosis Consensus (GED-C) initiative, was successfully tested in Finnish Gaucher disease patients. Furthermore, the feasibility of identifying potential undiagnosed Gaucher disease patients by point scoring large EHR data sets by automatic data mining was also under review.
Diagnosis of rare diseases can be delayed for multiple years or even decades or may remain undiagnosed due to difficulty of diagnosis and lack of disease awareness. Two recently published (Savolainen et al., 2021) retrospective research projects on Gaucher disease, which is a rare inherited multiorgan disorder, aimed to tackle in novel ways the challenge of identification of rare disease patients. The projects were carried out in Finland in a collaboration with Medaffcon, and two Finnish biobanks, the Biobank Borealis of Northern Finland and the Auria Biobank.
A prototype of a Gaucher disease point-scoring system (PSS), originally established by the Gaucher Earlier Diagnosis Consensus (GED-C) initiative, was successfully tested in Finnish Gaucher disease patients. The data obtained in Finnish patients, one of the first patient populations published to been tested with the GED-C PSS, provided important novel data on overall GED-C PSS score range among confirmed Gaucher disease patients.
Furthermore, in order to test the feasibility of identification of potential undiagnosed Gaucher disease patients by point scoring available electronic health record (EHR) data by automatic data mining, the GED-C PSS was also tested in a large EHR data set representing special health care recordings of approximately 170 000 Finnish biobank subjects. The original GED-C PSS was locally adjusted and successfully applied to the available EHR data. Among the large biobank population, with none of the individuals previously diagnosed for Gaucher disease, subjects with considerably high point scores were identified. The most feasible diagnostic methodology to be utilised in the large-scale testing of these undiagnosed high-score individuals remains to be evaluated in the future.
The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland, Savolainen MJ, Karlsson A, Rohkimainen S, Toppila I, Lassenius MI, Vaca Falconi C, Uusi-Rauva K and Elomaa K. Molecular Genetics and Metabolism Reports (2021) DOI: 10.1016/j.ymgmr.2021.100725.
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