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CLINICAL GENETICS

Polygenic embryo testing: understated ethics, unclear utility

Nature Medicine volume 28, pages 446–448 (2022)Cite this article

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New technologies are expanding the reach and accessibility of preimplantation genetic testing of human embryos. But what these advances can deliver is still unclear, and a frank assessment of their profound ethical implications is urgently needed.

In their study, Kumar et al. describe a method to enable PGT for common diseases2. To achieve this, they incorporate polygenic risk scores (PRSs), which combine the effects of many genetic variants (with individually small effects) into a single risk estimate; their contribution is the latest in a series of studies on potential applications of PRSs in reproductive contexts. To address limitations of existing approaches, Kumar et al. estimate the whole genome sequence of embryos through the use of parental genome sequencing and embryo genotyping, before assessing those embryos for risk of a dozen common diseases2. Their study suggests that the combination of disease risk estimates from both PRSs and rare variants, and analysis of both parental and embryo genomes, can increase the predictive accuracy of PGT. This study intersects with ongoing scientific and ethical debates about the application of ‘big data’ tools in genomics and the implications of expanded preimplantation and prenatal genetic testing. Kumar et al. note some of these debates in their discussion, yet understate their importance and complexity2.

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References

  1. Roche, K. et al. J. Assist. Reprod. Genet. 38, 1045–1053 (2021).

    Article  Google Scholar 

  2. Kumar, A. et al. Nat. Med. https://doi.org/10.1038/s41591-022-01735-0 (2022).

    Article  PubMed  Google Scholar 

  3. Takahashi, S., Johnston, J. & Patrizio, P. Genet. Med. 21, 1038–1040 (2019).

    Article  Google Scholar 

  4. Sandel, M. J. L. Phil. Culture 3, 153–158 (2009).

    Google Scholar 

  5. Bayefsky, M. & Jennings, B. Regulating Preimplantation Genetic Diagnosis in the United States: The Limits of Unlimited Selection (Springer, 2015).

  6. Matthews, L. J. Stud. Hist. Philos. Sci. 91, 1–9 (2022).

    Article  Google Scholar 

  7. Martin, A. R. et al. Am. J. Hum. Genet. 100, 635–649 (2017).

    CAS  Article  Google Scholar 

  8. Martin, A. R. et al. Nat. Genet. 51, 584–591 (2019).

    CAS  Article  Google Scholar 

  9. Mostafavi, H. et al. eLife 9, e48376 (2020).

    CAS  Article  Google Scholar 

  10. Sirugo, G., Williams, S. M. & Tishkoff, S. A. Cell 177, 26–31 (2019).

    CAS  Article  Google Scholar 

  11. Lázaro-Muñoz, G. et al. Genet. Med. 23, 432–434 (2021).

    Article  Google Scholar 

  12. Suter, S. M. Am. J. Law Med. 28, 233–270 (2002).

    Article  Google Scholar 

Download references

Acknowledgements

This research was supported in part by the National Human Genome Research Institute of the National Institutes of Health under awards RM1HG007257-07 and K01HG011683. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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Authors and Affiliations

  1. The Hastings Center, Garrison, NY, USA

    Josephine Johnston & Lucas J. Matthews

  2. University of Otago, Dunedin, New Zealand

    Josephine Johnston

  3. Columbia University, New York, NY, USA

    Lucas J. Matthews

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  1. Josephine Johnston
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  2. Lucas J. Matthews
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Correspondence to Josephine Johnston.

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Johnston, J., Matthews, L.J. Polygenic embryo testing: understated ethics, unclear utility. Nat Med 28, 446–448 (2022). https://doi.org/10.1038/s41591-022-01743-0

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  • DOI: https://doi.org/10.1038/s41591-022-01743-0

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