Reporting Results

Biomarker testing results should be reported in standardized, concise and clear manner1,2

Report Content

• Patient demographics

• Test result (HGVS nomenclature)

• Classification of mutations (germline and somatic)

• Neoplastic cell content

• Test methodology

• Test limitations

• Genetic counselling recommendations

• References

Report Considerations

Laboratories must ensure that interpretation and reporting meet the required standard for diagnostic testing (Medical Laboratory Accreditation-ISO 15189:2022 or equivalent), and that these elements are evaluated through regular participation in EQA where this is available.

  1. Scott, R. et al. (2021) 'Genetic testing for homologous recombination repair (HRR) in metastatic castration-resistant prostate cancer (mCRPC): challenges and solutions', Oncotarget.
  2. McDevitt, S. et al. (2024) 'EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer', European Journal of Human Genetics.

ESMO provides clear recommendations on clinical reporting of genomics test results for solid cancers1

Aims

Harmonised approaches to interpret the results of genomic testing are needed to support physicians in their decision-making, prevent inequalities in precision medicine and maximise patient benefit from available cancer management options.

Recommendations

  • Structure: 1. assay features, 2. sample characteristics and quality parameters, 3. genomic findings with functional annotation, 4. clinical actionability, 5. summary.
  • Summarize key messages in front page of the report
  • Include estimations of tumor content (including for ctDNA), to contextualize results.
  • Strong recommendation to include clinical interpretation of findings (not necessarily treatment recommendation)
  • Strong recommendation to identify need for follow up or confirmatory tests, including potentially germline events
  • Avoid clinical annotation of VUS, or even consider avoiding report of VUS
  1. Van de Haar, J. et al. (2024) 'ESMO Recommendations on clinical reporting of genomic test results for solid cancers', Annals of Oncology.

Accurate assessment of tumor content is essential factor for successful biomarker analysis 1,2

  • Tumor cell estimation will determine the accuracy and clinical relevance of the subsequent molecular result
  • The tumor area on the H&E slide should be marked to allow for the testing lab to macro-dissect the appropriate area on matched slides – ensuring that any possible dilution of tumor DNA by non-tumor DNA is kept to a minimum
  • The sensitivity and other limitations of any assay should be defined, as this ensures that any possible false negative results are highlighted, that the report is interpreted correctly with respect to genes that were analyzed, if different genetic alterations (e.g. mutations, CNVs, fusions) can be detected and a re-test can be ordered if appropriate
  1. Cree, I.A. et al. (2014) 'Guidance for laboratories performing molecular pathology for cancer patients', Journal of Clinical Pathology.
  2. Dudley, J. et al. (2014) 'Tumor cellularity as a quality assurance measure for accurate clinical detection of BRAF mutations in melanoma', Molecular Diagnosis & Therapy.