Robert J S
Department of Philosophy, McMaster University, Hamilton, Ontario, Canada.
Theor Med Bioeth. 2000;21(2):191-215. doi: 10.1023/a:1009913618140.
I begin by examining how genetics drives schizophrenia research, and raise both familiar and relatively novel criticisms of the evidence putatively supporting the genetic basis of schizophrenia. In particular, I call attention to a set of concerns about the effects of placentation on concordance rates of schizophrenia in monozygotic twins, which further weakens the case for schizophrenia's so-called strong genetic component. I then underscore two critical points. First, I emphasize the importance of taking seriously considerations about the complexity of both ontogenesis and the development of hereditary diseases. The recognition of developmental constraints and supports is crucial, for attention to development exposes the naivete of too many models of gene action in the aetiology of disease. Secondly, I attend to those schizophreniologists who ignore methodological criticisms and thus presume a genetic basis for schizophrenia, and then seek the 'schizophrenic genotype' lacking an adequate phenotype. In response I attempt to demonstrate the necessity of a sustained effort at characterizing the phenotype of schizophrenia as an enabling condition for the whole enterprise of psychiatric genetics--and for psychiatry itself. Without the organism-level phenotype, research at the level of genes will remain unproductive--assuming of course that research at the genetic level is appropriate at all.
我首先审视遗传学如何推动精神分裂症研究，并对据称支持精神分裂症遗传基础的证据提出一些常见和相对新颖的批评。特别是，我提请注意一系列关于胎盘形成对同卵双胞胎精神分裂症一致率影响的问题，这进一步削弱了精神分裂症所谓强大遗传成分的论据。然后我强调两个关键点。第一，我强调认真考虑个体发生和遗传性疾病发展复杂性的重要性。认识到发育限制和支持至关重要，因为关注发育揭示了许多疾病病因中基因作用模型的幼稚之处。其次，我关注那些忽视方法论批评、因而假定精神分裂症有遗传基础，然后去寻找缺乏适当表型的“精神分裂症基因型”的精神分裂症专家。作为回应，我试图证明持续努力刻画精神分裂症表型的必要性，这是整个精神病遗传学事业——以及精神病学本身的必要条件。没有机体层面的表型，基因层面的研究将仍然毫无成果——当然前提是基因层面的研究本身是合适的。
