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Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P)

European Journal of Human Genetics volume 31, pages 1099–1100 (2023)Cite this article

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The article by Siermann et al. [1] in this issue presents the findings of a questionnaire-based survey of 31 health care professionals (HCPs) involved in Preimplantation Genetic Testing (PGT), representing one of the main groups of stakeholders potentially involved in the routine application of PGT-P. The questionnaires took the form of interviews performed over a 6-month period, and the results reported in this article cover the HCPs’ views relating to the potential validity of the PGT-P technology, the clinical utility, the limitations and consequences of using PGT-P, as well as potential benefits.

The introduction of a new indication for PGT has often created a lively debate amongst HCPs, other professional groups and the wider public. The reasons principally stem from concerns of the safety of procedures, their clinical validity and utility, and the overall ethical implications for society. Several such applications have initially been received with resistance from HCPs, although the trend is subsequent acceptance (e.g. PGT to exclude a variety of monogenic diseases or chromosome aneuploidy, PGT-M or PGT-A, respectively) while others, for example sex-selection for social rather than medical reasons, have been legally banned in many countries. The potential of introducing new PGT applications into clinical practice is primarily technology-driven, and often involves only limited studies towards an evidenced-based clinical practice. In this issue the article by Siermann et al. [1], presents an empirical study of the views of healthcare professionals towards investigating ethical aspects of applying preimplantation genetic testing for complex traits, through Polygenic Risk Score (PRS) calculation, otherwise referred to by the acronym PGT-P.

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References

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Authors and Affiliations

  1. Laboratory of Medical Genetics, National and Kapodistrian Univeristy of Athens, St. Sophia’s Children’s Hospital, Athens, Greece

    Periklis Makrythanasis, Georgia Kakourou, Thalia Mamas, Christina Vrettou & Jan Traeger-Synodinos

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  1. Periklis Makrythanasis
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  2. Georgia Kakourou
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  3. Thalia Mamas
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  4. Christina Vrettou
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  5. Jan Traeger-Synodinos
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PM, GK and JTS wrote the manuscript; TM and CV provided feedback and editing.

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Correspondence to Jan Traeger-Synodinos.

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Makrythanasis, P., Kakourou, G., Mamas, T. et al. Contributing to the on-going debate around the clinical application of preimplantation embryo selection based on polygenic risk scores (PGT-P). Eur J Hum Genet 31, 1099–1100 (2023). https://doi.org/10.1038/s41431-023-01372-2

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