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October 20th, 2021

With recent advancements in technology, genomic medicine is continuously becoming more accessible to clinicians worldwide. Next-Generation Sequencing (NGS) has become a widely implemented technique that allows cost-efficient sequencing of a high number of base nucleotides in a short time frame. With the use of NGS, gene alterations in various common diseases have become detectable and enabled the development of personalized pharmaceutics. Gene panels are utilized as a part of cancer genomic profiling in order to provide individual patients with an opportunity for optimal treatment depending on the aspect of their cancer type.

Closeup of a Petri Dish

In 2017, the Japanese Society of Medical Oncology, the Japanese Society of Clinical Oncology, and the Japanese Cancer Association published “Clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment”, which enabled the more widespread use of NGS in determining the best possible treatment course for eligible cancer patients (Naito et al., 2021). The guidelines have since been updated, following the continuous emergence of new information pertinent to cancer genomic medicine. The gene panels encompass the most widely spread mutations in solid tumours that are known to be sensitive to novel therapy options. In 2020, The European Society for Medical Oncology (ESMO) proposed its recommendations for NGS use in cancer diagnosis and treatment (Mosele et al., 2020). The guidelines advised that advanced non-squamous non-small-cell lung cancer (NSCLC), prostate cancers, ovarian cancers and cholangiocarcinoma were sequenced routinely to test the eligibility of the patients for novel drug trials and potential development of new drugs. In addition, NGS can be used as an alternative to PCR in advanced colon cancer. Following the positive outcomes of previous drug clinical trials, tumour mutational burden (TMB) was recommended to be tested in cervical cancers, neuroendocrine tumours, salivary cancers, thyroid cancers and vulvar cancers. In the future, with the advancements in diagnostics and therapeutics, the extent of gene panel testing may change and serve as one of the main tools use for diagnostics and the determination of optimal treatment options for the individual patient.


Mosele, F. et al. (2020) ‘Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: a report from the ESMO Precision Medicine Working Group’, Annals of Oncology. Elsevier Ltd., 31(11), pp. 1491–1505. doi: 10.1016/j.annonc.2020.07.014.

Naito, Y. et al. (2021) Clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment (edition 2.1), International Journal of Clinical Oncology. Springer Singapore. doi: 10.1007/s10147-020-01831-6.

Nina Fajs, Edinburgh Genetics

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