Dive Lisa, Archibald Alison D, Freeman Lucinda, Newson Ainsley J
Sydney Health Ethics, The University of Sydney, Sydney, New South Wales, Australia.
Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Bioethics. 2023 May;37(4):359-366. doi: 10.1111/bioe.13136. Epub 2023 Feb 6.
Reproductive genetic carrier screening provides information about people's chance of having children with certain genetic conditions. Severity of genetic conditions is an important criterion for their inclusion in carrier screening programmes. However, the concept of severity is conceptually complex and underspecified. We analyse why severity is an important concept in carrier screening and for reproductive decision-making and show that assessments of severity can also have normative societal implications. While some genetic conditions are unambiguously associated with a high degree of suffering, there are many factors that contribute to how severe a condition is perceived to be, and perspectives will vary. Attempts to classify genetic conditions according to their severity tend to prioritise biomedical information at the expense of incorporating qualitative aspects of the impact of genetic conditions on people's lives. Further complexity arises because some genotypes can present with variable phenotypes and because some conditions are not always experienced in the same way by all people who have them. To acknowledge this complexity, we argue that an understanding of severity needs to distinguish between the severity of a genetic condition-requiring a generalised approach for purposes of policy development and programme design-and the severity of an instance of a genetic condition in a particular person. Families making reproductive decisions also require access to diverse experiences of the qualitative aspects of living with genetic conditions. As a result, reproductive carrier screening programmes must recognise and respond to the complexity inherent in determining the severity of genetic conditions.
生殖遗传携带者筛查提供了有关人们生育患有某些遗传疾病孩子的几率的信息。遗传疾病的严重程度是将其纳入携带者筛查项目的一个重要标准。然而，严重程度这一概念在概念上较为复杂且定义不明确。我们分析了为何严重程度在携带者筛查和生殖决策中是一个重要概念，并表明对严重程度的评估也可能具有规范性的社会影响。虽然一些遗传疾病无疑与高度的痛苦相关，但有许多因素会影响人们对一种疾病严重程度的认知，而且观点会因人而异。根据严重程度对遗传疾病进行分类的尝试往往优先考虑生物医学信息，而忽视了纳入遗传疾病对人们生活影响的定性方面。进一步的复杂性在于，一些基因型可能表现出可变的表型，并且一些疾病在所有患有该疾病的人身上的体验并不总是相同的。为了认识到这种复杂性，我们认为对严重程度的理解需要区分遗传疾病的严重程度（为了政策制定和项目设计需要一种通用方法）和特定个体中遗传疾病实例的严重程度。做出生殖决策的家庭也需要了解患有遗传疾病生活的定性方面的各种经历。因此，生殖携带者筛查项目必须认识到并应对确定遗传疾病严重程度所固有的复杂性。
