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局限性、关注点和潜力:医疗保健专业人员对使用多基因风险评分进行胚胎植入前遗传学检测的态度。

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

机构信息

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

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

出版信息

Eur J Hum Genet. 2023 Oct;31(10):1133-1138. doi: 10.1038/s41431-023-01333-9. Epub 2023 Mar 20.

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.

摘要

使用多基因风险评分(PGT-P)进行胚胎植入前遗传学检测最近已经推出。然而,PGT-P 引起了许多伦理关注。因此,了解利益相关者对 PGT-P 的看法非常重要。我们对医疗保健专业人员对 PGT-P 的看法进行了定性访谈研究。我们对 31 名从事胚胎植入前遗传学检测领域的医疗保健专业人员进行了深入的半结构化访谈。这些访谈探讨了医疗保健专业人员对 PGT-P 技术的态度,例如 PGT-P 的有效性、实用性、局限性和潜在益处。我们发现,大多数医疗保健专业人员对将 PGT-P 过早引入临床实践表示担忧。他们有各种伦理考虑,例如对 PGT-P 的有效性和实用性、有限的胚胎和选择、以及准父母在理解和知情决策方面的困难的关注。也确定了积极的方面,例如生殖自主权和潜在的健康益处。总体而言,大多数医疗保健专业人员认为 PGT-P 的临床实施还不成熟。首先需要进行更全面、更具前瞻性和包容性的研究,尽管这些研究可能无法使 PGT-P 得到足够改善以负责任地实施。医疗保健专业人员还担心 PGT-P 可能会给准父母带来焦虑并造成困难的选择。这些观点和伦理考虑对于未来关于 PGT-P 的指南和建议至关重要。

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