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The emergence of cancer genomics in diagnosis and precision medicine

Nature Cancer volume 2, pages 1263–1264 (2021)Cite this article

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Rapid progress in the molecular characterization of cancer genomes has been enabled by technology and computational analysis, and large databases now exist. Novel cancer therapeutics have resulted that more precisely target the vulnerabilities revealed by genomic analysis. Emergent efforts that link the two, using machine learning approaches and circulating DNA from cancer cells, are furthering cancer diagnosis and precision medicine.

In the 20 years since the initial draft of the human genome reference sequence completion was announced1, the cancer genomics community has been able to generate increasingly detailed landscapes of cancer genomes. Early work relied on the study of banked patient specimens by PCR and Sanger sequencing to define new driver genes and to establish the first links between targeted small-molecule inhibitors and their genomic targets2,3,4,5. Those methods yielded to unbiased discovery with the introduction of next-generation, massively parallel sequencing technology and working groups that enabled large-scale characterization of thousands of cancer genomes, methylomes and transcriptomes, such as The Cancer Genome Atlas (TCGA), the International Cancer Genome Consortium and many others. The resulting data expedited the discovery of new drivers, pathways and hallmarks of cancer biology, as well as novel drug targets, and established crucial links between the cancer genome and emerging immunotherapeutics. Now, 15 years since the founding of TCGA6, the impact of these early projects endures, wherein the publicly available datasets provide a rich resource for devising new hypotheses as well as for creating and testing analytic approaches. As researchers probe even more of cancer’s complexities, new capabilities have revealed genomic mechanisms of therapy resistance, evolutionary aspects of progression, the role of the epigenome, and the interplay of cancer cells with their microenvironment. In the past few years, the application of single-cell sequencing approaches has afforded higher resolution and unique vantage points for further elucidation of the genomic and epigenomic heterogeneity of the disease, and the differential involvement of immune cell types with their attendant influence on cancer cells and disease progression7,8. With the research output of the past two decades having established links between the genome and therapeutic indication of responses to targeted and immunotherapies, and with emerging evidence that therapeutic responses and perhaps even early detection of cancer can be revealed through genomic technologies, cancer genomics is now a vital component in the practice of cancer medicine. Thus, genomics writ large is impacting patients’ diagnoses, prognoses and treatment, in myriad and positive ways.

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  1. Rasmussen Institute for Genomic Medicine, Nationwide Children’s Hospital, Columbus, OH, USA

    Elaine R. Mardis

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Correspondence to Elaine R. Mardis.

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Mardis, E.R. The emergence of cancer genomics in diagnosis and precision medicine. Nat Cancer 2, 1263–1264 (2021). https://doi.org/10.1038/s43018-021-00305-6

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