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Transitioning single-cell genomics into the clinic

Nature Reviews Genetics volume 24, pages 573–584 (2023)Cite this article

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Abstract

The use of genomics is firmly established in clinical practice, resulting in innovations across a wide range of disciplines such as genetic screening, rare disease diagnosis and molecularly guided therapy choice. This new field of genomic medicine has led to improvements in patient outcomes. However, most clinical applications of genomics rely on information generated from bulk approaches, which do not directly capture the genomic variation that underlies cellular heterogeneity. With the advent of single-cell technologies, research is rapidly uncovering how genomic data at cellular resolution can be used to understand disease pathology and mechanisms. Both DNA-based and RNA-based single-cell technologies have the potential to improve existing clinical applications and open new application spaces for genomics in clinical practice, with oncology, immunology and haematology poised for initial adoption. However, challenges in translating cellular genomics from research to a clinical setting must first be overcome.

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Fig. 1: The key steps to consider for clinical implementation of single-cell sequencing technology.
Fig. 2: Advances in research from single-cell sequencing.
Fig. 3: Benefits of integrating single-cell sequencing into clinical practice.

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Author notes

  1. These authors contributed equally: Jennifer Lim, Venessa Chin.

Authors and Affiliations

  1. Cellular Science, Garvan Institute of Medical Research, Sydney, NSW, Australia

    Jennifer Lim, Venessa Chin, Catia Moutinho, Dan Suan & Joseph E. Powell

  2. Department of Oncology, St George Hospital, Sydney, NSW, Australia

    Jennifer Lim

  3. The Kinghorn Cancer Centre, St Vincent’s Hospital, Sydney, NSW, Australia

    Jennifer Lim & Venessa Chin

  4. Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia

    Jennifer Lim, Venessa Chin & Joseph E. Powell

  5. School of Medicine, University of Tasmania, Hobart, Australia

    Kirsten Fairfax

  6. Westmead Clinical School, University of Sydney, Sydney, NSW, Australia

    Dan Suan

  7. School of Medicine, Stanford University, Palo Alto, CA, USA

    Hanlee Ji

  8. Stanford Genome Technology Center, Stanford University, Palo Alto, CA, USA

    Hanlee Ji

  9. UNSW Cellular Genomics Futures Institute, University of New South Wales, Sydney, NSW, Australia

    Joseph E. Powell

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J.E.P., J.L. and K.F. researched data for the article. J.E.P., J.L., V.C. and C.M. discussed the content of the article. All authors wrote the article and reviewed and/or edited the manuscript before submission.

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Correspondence to Joseph E. Powell.

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Nature Reviews Genetics thanks James Zehnder, who co-reviewed with Fei Fei; and Satu Mustjoki for their contribution to the peer review of this work.

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Related links

BioRad ddSeq: https://www.bio-rad.com/en-au/product/ddseq-single-cell-isolator?ID=OKNWBSE8Z

Mission Bio Tapestri platform: https://missionbio.com/resources/technical-notes/platform_white_paper/

National Human Genome Resource Institute: https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost

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Lim, J., Chin, V., Fairfax, K. et al. Transitioning single-cell genomics into the clinic. Nat Rev Genet 24, 573–584 (2023). https://doi.org/10.1038/s41576-023-00613-w

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