作者: Véronique Tack , Zandra C. Deans , Nicola Wolstenholme , Simon Patton , Elisabeth M. C. Dequeker
DOI: 10.1002/HUMU.22975
关键词:
摘要: The Human Genome Variation Society (HGVS) recommendations provide standardized nomenclature for reporting variants. This should be encouraged in molecular pathology-both issuing diagnostic reports and correct data recording electronic databases. Many providers of external quality assessment (EQA) promote the use HGVS by scoring variant descriptions used EQA reports. study focuses on type impact errors. An was made EGFR gene four (European Pathology [ESP], European Molecular Genetics Quality Network [EMQN], United Kingdom National External Assessment Service Genetics, French national Gen&Tiss scheme) two distributions. Laboratories testing oncology biomarkers make different errors when describing Significant differences were observed regarding inclusion reference sequence: EMQN participants fewer compared to ESP (P-value = 0.015). analysis showed significant improvement over 2 years 0.016). Results demonstrate need according guidelines. Consequences using incorrect mutation are currently perceived as low many laboratories, but will rise with an increased reliance databases assist result analysis.