WS17.3 Errors in documentation of genotype results in a large adult CF centre

Introduction Since the discovery of the CF gene, over 1900 mutations have been described. The development of targeted CFTR-modulator therapy has made accurate recording of genotypes essential. In adult services, information regarding patients' genotypes is often inherited from paediatric services. Additionally, changes in the nomenclature of mutations has complicated recording of this information. These factors raise the potential for errors. Methods In the UK, clinicians input genetic information for CF patients into a national registry. We conducted a cross-sectional audit comparing data stored in the national registry to genotype results from the regional genomic laboratory for one large adult centre. Results 370 patients were registered in the national database. Information was available in 283 cases from the genetic laboratory. Results were concordant in 266 patients and discordant in 17, a 6% error rate. 8 of these errors were simple transcriptional errors. On 3 occasions microsatellite markers or polymorphisms were misinterpreted as mutations. In 4 cases the recorded genotype was incorrect, resulting in a mutation class shift for 2 patients. One patient with G551D [p.(Gly551Asp)] was entered as F508del [p.(Phe508del)], though clinicians were aware of this error prior to licensing of ivacaftor. In 2 cases the database was not updated with extended screening results. Conclusions Accurate genetic information is essential for access to appropriate medication, participation in clinical trials and prognosis. We highlight the potential for errors in recording this information in registries and databases. Centres should ensure processes are in place to prevent these errors.