Abstract
Preimplantation genetic testing (PGT) involves testing embryos created through in vitro fertilization for the presence of hereditary genetic disorders and chromosome abnormalities. PGT for monogenic conditions (PGT-M) is generally performed for childhood-onset, lethal disorders, but is increasingly accepted for certain adult-onset conditions, conditions with available treatment options or conditions with lower penetrance. Furthermore, the development of PGT for polygenic conditions (PGT-P) makes ethical questions regarding PGT indications imperative. A systematic review was therefore performed to gather and analyse studies on the perspectives of healthcare professionals on the appropriate scope of PGT, with the aim of getting insights into the concerns about the scope of PGT now and in the near future. PRISMA guidelines were followed. Twelve qualitative articles were included. The main themes extracted were the scope of PGT and decision-making about PGT. Defining ‘a serious genetic condition’ was seen as complex, but severity, high penetrance and absence of treatability and patients’ experience were seen as relevant indications to determine the appropriateness of PGT. In navigating the decision-making processes with patients, professionals experienced friction between setting limits and respecting patients’ autonomy. Such friction and ethical dilemmas around seriousness, informed decision-making and preventative medicine show that while expanding the list of possible PGT indications and the development of PGT-P could augment patients’ reproductive autonomy, it could also lead to an increased reproductive ‘burden’ for patients. These insights are crucial for establishing guidelines that help healthcare professionals navigate ethical tensions associated with PGT.
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The data underlying this article are available in Supplementary Table 2 in a summarized form.
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Qualitative data analysis program NVIVO was used for coding.
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Acknowledgements
We would like to thank Amine Kordjani for assisting with the systematic literature search. Additionally, we would like to thank Dr. Krizia Tuand, a biomedical reference librarian of the KU Leuven Libraries – 2Bergen – learning Centre Désiré Collen (Leuven, Belgium) for her help in conducting the systematic literature search.
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This project has received funding from the European Union’s Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement No 813707.
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MS was responsible for the analysis, methodology and writing of the original manuscript. ZC, LP and MS performed the quality appraisal. PB and OT were responsible for supervision. ZC, LP, TR, OT, JRV and PB provided important intellectual feedback on the original manuscript.
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Siermann, M., Claesen, Z., Pasquier, L. et al. A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing. J Community Genet 13, 1–11 (2022). https://doi.org/10.1007/s12687-021-00573-w
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DOI: https://doi.org/10.1007/s12687-021-00573-w