QAZIIMIlluminate Health Innovations
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Laboratory service

QAZIIM Oncology Department

Somatic and germline diagnostics

Tumour profiling and inherited-risk testing answer different questions and require different specimens and interpretation.

01

Somatic tumour profiling

Tumour DNA or RNA can reveal variants, copy-number changes, rearrangements and fusions related to classification, approved therapies, resistance or biomarker-driven trials.1

02

Germline cancer genetics

A pathogenic inherited variant can affect surveillance, additional-primary risk, prevention, selected treatment choices and testing of biological relatives. Genetic counselling is integral.2

Liquid biopsy and molecular analysis
Liquid biopsy and molecular analytes

Blood-based analysis can examine circulating tumour DNA, circulating cells and other molecular signals for mutations, copy-number changes, rearrangements or epigenetic features. Central nervous system tumours can shed little material into plasma, so a negative result does not exclude disease.6

Created with BioRender.com. Scientific interpretation and caption by QAZIIM.
03

Mechanism, evidence and limitations

Molecular findings are evaluated through biological plausibility, analytical validity, tumour-specific clinical evidence and potential impact on management. Associations from another cancer type are not automatically transferable.3

04

Longitudinal and multidisciplinary interpretation

Cancer evolves across anatomical sites and under treatment pressure. Pathology, imaging, treatment history, specimen quality and molecular data are reviewed together, with repeat assessment considered only when it can answer a defined clinical question.4

References

  1. Chakravarty, D. & Solit, D. B. Clinical cancer genomic profiling. Nat. Rev. Genet. 22, 483–501 (2021).
  2. Thavaneswaran, S. et al. Therapeutic implications of germline genetic findings in cancer. Nat. Rev. Clin. Oncol. 16, 386–396 (2019).
  3. Ginsburg, O. et al. The role of genomics in global cancer prevention. Nat. Rev. Clin. Oncol. 18, 116–128 (2021).
  4. Hanahan, D. Hallmarks of cancer: new dimensions. Cancer Discov. 12, 31–46 (2022).
  5. Dagogo-Jack, I. & Shaw, A. T. Tumour heterogeneity and resistance to cancer therapies. Nat. Rev. Clin. Oncol. 15, 81–94 (2018).
  6. Ignatiadis, M., Sledge, G. W. & Jeffrey, S. S. Liquid biopsy enters the clinic. Nat. Rev. Clin. Oncol. 18, 297–312 (2021).