Department of Biomedical Ethics and Public Policy, Graduate School of Medicine, Osaka University, Suita, Japan.
Graduate School of Human Sciences, Osaka University, Suita, Japan.
Hum Genomics. 2022 May 18;16(1):16. doi: 10.1186/s40246-022-00390-3.
A number of countries are leading the way in creating regulatory frameworks for preimplantation genetic testing (PGT). Among these countries, a point of consensus is that PGT may be used to avoid the birth of a child with a serious genetic disease. However, standards for evaluating disease severity in this context are not always clear. Considering the numerous medical and social implications of defining a standard for serious disease, our study sought out to better understand how disease severity for PGT is being defined by analyzing and comparing the regulatory landscapes for PGT in various countries.
We carried out a multi-case study analysis using policy documents from the UK, Western Australia, and Japan. Documentary analysis was used to analyze and compare these documents in terms of medical indications for PGT, evaluation methods of applications for PGT, and review frameworks used during the evaluation process, which includes the specific medical and social factors that are considered.
Within our three case studies, medical indications for PGT are based on an estimated risk of the woman giving birth to a child with a genetic abnormality with known clinical deficits. Evaluation methods for approving applications for PGT include reference to a pre-approved list of genetic conditions (the UK) and case-by-case reviews (all case studies). Review frameworks for case-by-case reviews include reference to a list of considered factors (the UK and Western Australia) and a definition statement of disease severity (Japan), which provide insight into interpretations of disease severity in each context.
The results of this study point to the possible medical and social impacts of PGT regulatory frameworks on multiple stakeholders. Furthermore, it suggests that impacts in this case are not only caused by whether PGT is permitted or not, but also by the circumstances under which it is allowed and how decisions regarding its approval are made. Our results may serve as valuable insights for countries that already have established policy for PGT but are considering revision, countries that are without policy, and for discussions on related genetic and reproductive technologies.
一些国家在制定胚胎植入前遗传学检测（PGT）的监管框架方面处于领先地位。在这些国家中，有一个共识是，PGT 可用于避免生育患有严重遗传疾病的孩子。然而，在这种情况下，评估疾病严重程度的标准并不总是明确的。考虑到定义严重疾病标准的众多医学和社会影响，我们的研究旨在通过分析和比较不同国家的 PGT 监管格局，更好地了解 PGT 疾病严重程度是如何定义的。
我们使用来自英国、西澳大利亚州和日本的政策文件进行了多案例研究分析。使用文献分析方法，从 PGT 的医学适应症、PGT 申请评估方法以及评估过程中使用的审查框架等方面对这些文件进行分析和比较，包括在评估过程中考虑的具体医学和社会因素。
在我们的三个案例研究中，PGT 的医学适应症是基于估计女性生育患有已知临床缺陷的遗传异常儿童的风险。PGT 申请批准的评估方法包括参考预先批准的遗传疾病清单（英国）和逐个病例审查（所有案例研究）。逐个病例审查的审查框架包括参考考虑因素清单（英国和西澳大利亚州）和疾病严重程度的定义声明（日本），这些为每个背景下的疾病严重程度解释提供了深入了解。
这项研究的结果表明，PGT 监管框架可能对多个利益相关者产生可能的医学和社会影响。此外，这表明这种情况下的影响不仅取决于是否允许 PGT，还取决于允许的情况以及如何做出批准决定。我们的研究结果可能为已经制定了 PGT 政策但正在考虑修订的国家、没有政策的国家以及与遗传和生殖技术相关的讨论提供有价值的见解。
