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  • Review Article
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The role of genomics in global cancer prevention

Nature Reviews Clinical Oncology volume 18, pages 116–128 (2021)Cite this article

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Abstract

Despite improvements in the understanding of cancer causation, much remains unknown regarding the mechanisms by which genomic and non-genomic factors initiate carcinogenesis, drive cell invasion and metastasis, and enable cancer to develop. Technological advances have enabled the analysis of whole genomes, comprising thousands of tumours across populations worldwide, with the aim of identifying mutation signatures associated with particular tumour types. Large collaborative efforts have resulted in the identification and improved understanding of causal factors, and have shed light on new opportunities to prevent cancer. In this new era in cancer genomics, discoveries from studies conducted on an international scale can inform evidence-based strategies in cancer control along the cancer care continuum, from prevention to treatment. In this Review, we present the relevant history and emerging frontiers of cancer genetics and genomics from the perspective of global cancer prevention. We highlight the importance of local context in the adoption of new technologies and emergent evidence, with illustrative examples from worldwide. We emphasize the challenges in implementing important genomic findings in clinical settings with disparate resource availability and present a conceptual framework for the translation of such findings into clinical practice, and evidence-based policies in order to maximize the utility for a population.

Key points

  • Technological advances in germline and tumour genomics are helping to drive progress in elucidating cancer causation at the individual and population level and offer new insights and potential opportunities to prevent certain cancers.

  • The understanding of cancer risks attributable to moderately and highly penetrant mutations in cancer susceptibility genes across different populations has also improved, and genome-wide association studies have led to the identification of single nucleotide polymorphisms that individually confer a small cancer risk and in combination are associated with clinically relevant effects on cancer risk.

  • In practice, taking cancer genomics data to the clinic remains challenging even within some high-income country settings owing to factors including inequitable access and use of limited genetics resources, particularly among minority ethnic and cultural populations; the disproportionate contribution of genomic data from largely European populations also limits the degree to which such information is generalizable to other populations.

  • Optimal strategies to identify individuals at (high) genetic risk for cancer are currently being debated, with evidence increasingly supporting the adoption of population-based genetic testing for individuals with certain cancers.

  • The evidence-to-policy gap in cancer genomics is both deep and wide; the efficiency by which knowledge generation, integration, and dissemination can ultimately lead to better population health can be improved through high-quality implementation research.

  • While genomics can contribute to the pursuit of global health equity through the open exchange of information, expertise and technology between countries of all income levels, this goal will only be possible if it is integrated with the broader, societal understanding of the utility of cancer genomics; an equity lens must be applied throughout the translational research continuum, ensuring adequate representation in research studies of all major world populations, and ethnic and cultural groups.

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Fig. 1: Mendelian randomization approaches in cancer genomic studies.
Fig. 2: A population health equity framework for the translation of genomics research findings into cancer prevention.

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Acknowledgements

The authors acknowledge the contributions of A. Newcomb for assistance with the design of Fig. 2 and A. Li for administrative support.

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  1. These authors contributed equally: Ophira Ginsburg, Paul Brennan.

Authors and Affiliations

  1. Perlmutter Cancer Center, NYU Langone Health, New York, NY, USA

    Ophira Ginsburg & Anna Cantor

  2. Section for Global Health, Division of Health and Behavior, Department of Population Health, NYU Grossman School of Medicine, New York, NY, USA

    Ophira Ginsburg

  3. Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre and Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Patricia Ashton-Prolla

  4. International Agency for Research on Cancer, Lyon, France

    Daniela Mariosa & Paul Brennan

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CRUK Mutographs: https://mutographs.org

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Ginsburg, O., Ashton-Prolla, P., Cantor, A. et al. The role of genomics in global cancer prevention. Nat Rev Clin Oncol 18, 116–128 (2021). https://doi.org/10.1038/s41571-020-0428-5

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