Department of Sociology, University of California, La Jolla, CA, USA.
Dev Med Child Neurol. 2022 Dec;64(12):1462-1469. doi: 10.1111/dmcn.15376. Epub 2022 Aug 13.
When it comes to neurodevelopmental differences, a genetic test result can provide compelling answers. However, it is not always clear what the relevant question is. If we want to understand the impact of a genetic diagnosis such as NGLY1 deficiency or the fragile X, trisomy X, or 22q11.2 deletion syndromes on people with neurodevelopmental differences, we must be mindful about what exactly a genetic test is supposed to tell us, where and for whom it matters, and which avenues for action it opens or forecloses. These are all moving targets. Specifically, I discuss the shifting ways a genetic test result can answer the following questions. What is this person's diagnosis? What symptoms and developmental differences are they likely to experience? What is the best way to approach their development, treatment, and care? Will they have a life worth living? When you unpack the sociological nuances of each question, the history behind them, and the uneven ways they are asked, the meanings of the answers change quite radically. I discuss the implications for social inequalities and urge experts and stakeholders to exercise agency when they interpret a genetic diagnosis. WHAT THIS PAPER ADDS: The questions a genetic test can answer depend on a range of social factors. Whether and how a genetic test result affects diagnosis, identity, prognosis, and treatment is a moving target. Genetics creates questions about a life worth living that it cannot answer alone. Stakeholders must choose the questions about neurodevelopmental differences that genetics should answer.
当涉及到神经发育差异时，基因测试结果可以提供有说服力的答案。然而，并不总是清楚相关的问题是什么。如果我们想了解神经发育差异患者的 NGLY1 缺乏症或脆性 X、X 三体、22q11.2 缺失综合征等遗传诊断对他们的影响，我们必须注意基因测试应该告诉我们什么，它在何处以及对谁重要，以及它开辟或排除了哪些行动途径。这些都是不断变化的目标。具体来说，我讨论了基因测试结果可以回答以下问题的方式的变化。这个人的诊断是什么？他们可能会经历哪些症状和发育差异？他们的发育、治疗和护理最好采用什么方法？他们会有值得过的生活吗？当你深入研究每个问题的社会学细微差别、它们背后的历史以及它们被提出的不平衡方式时，答案的含义会发生相当大的变化。我讨论了这对社会不平等的影响，并敦促专家和利益相关者在解释遗传诊断时发挥作用。本文的新增内容：基因测试可以回答的问题取决于一系列社会因素。基因测试结果是否以及如何影响诊断、身份、预后和治疗是一个不断变化的目标。遗传学提出了关于值得过的生活的问题，但它无法独自回答这些问题。利益相关者必须选择遗传学应该回答的关于神经发育差异的问题。
