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Inconsistent embryo selection across polygenic score methods

Nature Human Behaviour volume 8, pages 2264–2267 (2024)Cite this article

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Private enterprises offer preimplantation genetic testing with polygenic scores to select embryos with ‘desirable’ potential. In silico simulations using biobank resources show that the selected embryo would rely substantially on the choice of polygenic score method and randomness in score construction, which raises ethical concerns.

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Fig. 1: Prominent inconsistency of embryo selection rank across PRS methods.

Data availability

The genotype data of Biobank Japan are available at NBDC Human Database, accession IDs JGAS000114 and JGAS000412.

Code availability

We constructed PRS using the following publicly available tools: LDpred2, PRScs, SBayesC, SBayesRC and MegaPRS.

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Acknowledgements

S.N. was supported by AMED (JP24tm0424228), Takeda Science Foundation, and Japan Foundation for Applied Enzymology. A.T. was supported by AMED (JP22km0405214). Y.O. was supported by JSPS KAKENHI (22H00476), AMED (JP21gm4010006, JP22km0405211, JP22ek0410075, JP22km0405217, JP22ek0109594, JP223fa627002, JP223fa627010, JP233fa627011, JP23zf0127008, JP23tm0524002, JP23ek0410113 and JP23kk0305022), JST Moonshot R&D (JPMJMS2021 and JPMJMS2024), Takeda Science Foundation, Bioinformatics Initiative of Osaka University Graduate School of Medicine, Institute for Open and Transdisciplinary Research Initiatives and Center for Infectious Disease Education and Research (CiDER), and Center for Advanced Modality and DDS (CAMaD), Osaka University. N.O. was supported by AMED (JP22dk0307113).

Author information

Author notes

  1. A full list of members and their affiliations appears in the Supplementary Information.

Authors and Affiliations

  1. Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

    Shinichi Namba, Kyuto Sonehara, Yukinori Okada & Yukinori Okada

  2. Department of Statistical Genetics, Graduate School of Medicine, Osaka University, Suita, Japan

    Shinichi Namba, Kyuto Sonehara, Ken Suzuki, Kenichi Yamamoto, Yukinori Okada & Yukinori Okada

  3. Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan

    Shinichi Namba, Kyuto Sonehara, Yukinori Okada & Yukinori Okada

  4. Department of Ocular Pathology and Imaging Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

    Masato Akiyama

  5. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan

    Haruka Hamanoue

  6. Department of Biomedical Ethics and Public Policy, Graduate School of Medicine, Osaka University, Suita, Japan

    Kazuto Kato & Natsuko Yamamoto

  7. Database Center for Life Science, ROIS-DS, Kashiwa, Japan

    Minae Kawashima

  8. Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Japan

    Itaru Kushima

  9. Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan

    Itaru Kushima

  10. Laboratory of Genome Technology, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan

    Koichi Matsuda

  11. Laboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan

    Koichi Matsuda

  12. Public Health Informatics Unit, Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Nagoya, Japan

    Masahiro Nakatochi

  13. INGEM, Tohoku University, Sendai, Japan

    Soichi Ogishima

  14. Department of Informatics for Genomic Medicine, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan

    Soichi Ogishima

  15. Laboratory for Molecular Pathology of Psychiatric Disorders, RIKEN Center for Brain Science, Wako, Japan

    Atsushi Takata

  16. Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan

    Gen Tamiya

  17. Department of Statistical Genetics and Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan

    Gen Tamiya

  18. Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan

    Gen Tamiya

  19. Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan

    Chizu Tanikawa

  20. Laboratory of Children’s health and Genetics, Division of Health Sciences, Graduate School of Medicine, Osaka University, Suita, Japan

    Kenichi Yamamoto

  21. Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Japan

    Kenichi Yamamoto

  22. Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, Suita, Japan

    Kenichi Yamamoto, Yukinori Okada & Yukinori Okada

  23. Ethical, Legal, and Social Issues Core, Institute for Datability Science, Osaka University, Suita, Japan

    Natsuko Yamamoto

  24. Osaka University Research Center on Ethical, Legal, and Social Issues (ELSI Center), Suita, Japan

    Natsuko Yamamoto

  25. Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya, Japan

    Norio Ozaki

  26. Premium Research Institute for Human Metaverse Medicine (WPI-PRIMe), Osaka University, Suita, Japan

    Yukinori Okada & Yukinori Okada

Authors
  1. Shinichi Namba
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  2. Masato Akiyama
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  3. Haruka Hamanoue
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  4. Kazuto Kato
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  5. Minae Kawashima
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  6. Itaru Kushima
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  7. Koichi Matsuda
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  8. Masahiro Nakatochi
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  9. Soichi Ogishima
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  10. Kyuto Sonehara
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  11. Ken Suzuki
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  12. Atsushi Takata
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  13. Gen Tamiya
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  14. Chizu Tanikawa
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  15. Kenichi Yamamoto
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  16. Natsuko Yamamoto
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  17. Norio Ozaki
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  18. Yukinori Okada
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Consortia

The BioBank Japan Project

  • Koichi Matsuda
  •  & Yukinori Okada

Corresponding authors

Correspondence to Shinichi Namba or Yukinori Okada.

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Competing interests

The authors declare no competing interests.

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Namba, S., Akiyama, M., Hamanoue, H. et al. Inconsistent embryo selection across polygenic score methods. Nat Hum Behav 8, 2264–2267 (2024). https://doi.org/10.1038/s41562-024-02019-y

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  • DOI: https://doi.org/10.1038/s41562-024-02019-y

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