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Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores

European Journal of Human Genetics (2023)Cite this article

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Abstract

Preimplantation genetic testing using polygenic risk scores (PGT-P) has recently been introduced. However, PGT-P has been met with many ethical concerns. It is therefore important to get insights into the perspectives of stakeholders regarding PGT-P. We performed a qualitative interview study on the views of healthcare professionals toward PGT-P. We conducted in-depth semi-structured interviews with 31 healthcare professionals working in the field of preimplantation genetic testing. The interviews explored the attitudes of healthcare professionals toward the technology of PGT-P, e.g., the validity, utility, limitations and potential benefits of PGT-P. We found that most healthcare professionals were concerned about the prematurity of introducing PGT-P into clinical practice. They had various ethical considerations, such as concerns related to validity and utility of PGT-P, limited embryos and options, and difficulties for prospective parents regarding comprehension and informed decision-making. Positive aspects were also identified, e.g., regarding reproductive autonomy and potential health benefits. Overall, most healthcare professionals considered that clinical implementation of PGT-P is premature. More comprehensive, longitudinal and inclusive studies are needed first, though these might not improve PGT-P enough to responsibly implement it. Healthcare professionals were also concerned that PGT-P could cause anxiety and create difficult choices for prospective parents. These perspectives and ethical considerations are crucial to consider for future guidelines and recommendations regarding PGT-P.

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Data availability

The data underlying this paper cannot be shared publicly, in order to protect the privacy of individuals that participated in the study. The data can be shared on reasonable request to the corresponding author.

Notes

  1. Quotes in Dutch were translated to English by M.S.

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Acknowledgements

We thank the healthcare professionals that took part in this study for their valuable contribution. Furthermore, we would like to thank Amicia Phillips (KU Leuven) for checking the paper for linguistic accuracy.

Funding

This project has received funding from the European Union’s Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant agreement No 813707. Pascal Borry is also funded through A PeRsOnalized Prevention roadmap for the future HEalThcare (PROPHET, grant number 101057721).

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Authors and Affiliations

  1. Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium

    Maria Siermann, Ophelia Valcke & Pascal Borry

  2. Department of Physiology, Faculty of Medicine, University of Helsinki, Helsinki, Finland

    Maria Siermann & Taneli Raivio

  3. Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven, Belgium

    Joris Robert Vermeesch & Olga Tšuiko

  4. Reproductive Genetics Unit, Center for Human Genetics, UZ Leuven, Leuven, Belgium

    Olga Tšuiko

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  1. Maria Siermann
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  5. Olga Tšuiko
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Contributions

Conceptualization: MS, OT, PB. Analysis: MS, OV. Investigation and methodology: MS, OV. Project administration: MS. Supervision: PB, OT. Writing original paper: MS; Critical review of paper: MS, OV, TR, JRV, OT, PB.

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Correspondence to Maria Siermann.

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The study received ethical approval from the Research Ethics Committee UZ/KU Leuven (S65501). All participants signed an informed consent form to participate in this study.

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Siermann, M., Valcke, O., Vermeesch, J.R. et al. Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores. Eur J Hum Genet (2023). https://doi.org/10.1038/s41431-023-01333-9

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