The ins and outs of molecular pathology reporting

Abstract

The raid evolution in molecular pathology resulting in an increasing complexity requires careful reporting. The need for standardisation is clearer than ever. While synoptic reporting was first used for reporting hereditary genetic diseases, it is becoming more frequent in pathology, especially molecular pathology reports too. The narrative approach is no longer feasible with the growing amount of essential data present on the report, although narrative components are still necessary for interpretation in molecular pathology. On the way towards standardisation of reports, guidelines can be a helpful tool. There are several guidelines that focus on reporting in the field of hereditary diseases, but it is not always feasible to extrapolate these to the reporting of somatic variants in molecular pathology. The rise of multi-gene testing causes challenges for the laboratories. In order to provide a continuous optimisation of the laboratory testing process, including reporting, external quality assessment is essential and has already proven to improve the quality of reports. In general, a clear and concise report for molecular pathology can be created by including elements deemed important by different guidelines, adapting the report to the process flows of the laboratory and integrating the report with the laboratory information management system and the patient record.

Creating genetic reports that are understood by nonspecialists: a case study

“…2,5,6 Guidelines state that reports should be clear and comprehensible to nonspecialists, and provide some guidance on how to achieve this. 2,[7][8][9][10][11][12][13][14] Despite widespread adoption of some guidelines, such as those of the American College of Medical Genetics and Genomics (ACMG), 7 studies investigating patients' and nonspecialists' satisfaction and perceptions find that existing reports leave substantial room for improvement. 4,[15][16][17] Genomic reports are especially challenging due to lack of standardization 18,19 and the complexity and uncertainty of the information involved.…”

Recommendations for designing genetic test reports to be understood by patients and non-specialists

“…These guidelines are primarily concerned with reporting the technical details associated with the testing procedure and result interpretation. Importantly, they all vary in their recommendations [5] and interpretation (see O'Daniel et al [6] for a US example) and are perpetually revised as testing methodologies and the clinical relevance of genetic variations become better understood. This results in the need for extremely clear communication of exactly what was tested and what the result means in every single report so that non-specialists (and specialists alike) can readily interpret reports without requiring contextual knowledge of the reporting landscape at the time of testing and from the location in which the report was generated.…”

Incidents in Molecular Pathology: Frequency and Causes During Routine Testing

“…Correct reporting in a clear and transparent format is important for the clinician to interpret the obtained results related to the patient context, sample limitations, and applied test methods. While several guidelines on reporting exist, 25 there is still debate on the necessary elements to be included according to the different intralaboratory and extralaboratory stakeholders.…”