EMQN believes that every patient should have the most accurate genomic test results possible, providing external quality assessments (EQAs) to laboratories across the globe. Despite our aspirations,
errors still occur in diagnostic testing, with the most severe genotyping errors having the potential to cause harm and negatively impact a patient’s quality of life.
EMQN asks each laboratory that experiences poor performance during an EQA to complete an optional root cause analysis (RCA) form to identify the source of these errors, and whether they have the
potential to have impacted patients. Although the data provided is optional, it can provide an insight into the cause of errors in diagnostic settings.
Using this data, we identified trends for the most prevalent causes of genotyping error in the hopes that a deeper understanding will lead to improved patient care in the future.
Aims
- To determine the most common underlying root causes of critical genotyping errors
found through the external quality assessment process between 2019 and 2023, for both
germline and molecular pathology schemes. - To identify trends in the root causes for critical genotyping errors over time.
