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Toward consistency in somatic genomic testing

European Journal of Human Genetics (2026) Cite this article

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The Original Article was published on 12 March 2026

The rapid expansion of somatic genomic testing in oncology is reshaping clinical decision-making, with its clinical value extending beyond the ability to sequence a tumour to the consistency with which testing is performed and interpreted. A recent survey of diagnostic laboratories in Australia and New Zealand offers important insight into current practices in this evolving field. In this journal, Pendlebury et al. provide a timely and valuable assessment, demonstrating encouraging alignment with international standards while also identifying areas of inconsistency that expose critical gaps in standardisation and opportunities for global improvement [1].

Over the past decade, the cost and complexity of genomic sequencing have fallen dramatically, driving its integration into routine cancer care. Comprehensive genomic profiling (CGP)—the simultaneous interrogation of hundreds of genes in a single tumour sample—is increasingly positioned as a cornerstone of precision oncology, offering the prospect of guiding targeted therapy, informing prognosis and widening access to clinical trials [2, 3]. Yet the promise of these technologies is only as strong as the systems that deliver them. How genomic data are generated, interpreted and communicated matters as much as the data themselves. The survey by Pendlebury et al. provides one of the most granular assessments to date of how somatic testing is conducted in practice—spanning assay design, variant curation, clinical reporting and data sharing across an entire regional network of diagnostic laboratories.

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Fig. 1: Sources of variability in somatic genomic testing.
The alternative text for this image may have been generated using AI.

References

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Funding

PNRR-MCNT2-2023-12378166/European Union-Next Generation EU-NRRP M6C2-Investment 2.1 Enhancement and Strengthening of Biomedical Research in the NHS.

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  1. Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy

    Paola Ghiorzo

  2. Cancer Genetics, IRCCS Azienda Ospedaliera Metropolitana-Oapedale Policlinico San Martino, Genoa, Italy

    Paola Ghiorzo

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  1. Paola Ghiorzo
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Correspondence to Paola Ghiorzo.

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Ghiorzo, P. Toward consistency in somatic genomic testing. Eur J Hum Genet (2026). https://doi.org/10.1038/s41431-026-02130-w

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