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Bruno Schulz's 1936 book “Methodology of medical genetic research particularly with regard to psychiatry”
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2023-11-06 , DOI: 10.1002/ajmg.b.32963
Kenneth S Kendler 1 , Astrid Klee 2
Affiliation  

In 1936, Bruno Schulz published the first detailed, book-length review of the methodology of psychiatric genetic research, based on his experiences at the German Research Institute of Psychiatry. Emphasis is placed on proper selection of relatives and the ascertainment corrections required for Mendelian transmission models. Twin studies are considered as is the impact of reduced fertility on patterns of risk. For the field work, Schulz emphasizes the importance of trust-building, confidentiality, collateral informants, and the use of medical and other administrative records, all ideally stored in personal files. Several methods of age-correction are reviewed. Schulz provides detailed algebraic treatments of these and other problems, including tests for etiologic homogeneity, with worked examples. He emphasizes two fundamental concerns in psychiatric genetics research: (i) its inter-dependency with the optimal diagnostic boundaries, which are rarely known and (ii) the genetic homogeneity of clinical samples. Given these problems, he is pessimistic about finding Mendelian transmission patterns. He assesses the predominant 19th-century method of psychiatric genetic investigation—“hereditary burden”—to be crude and biased by family size. Although written at a time of consolidation of Nazi power in Germany, this book nowhere endorses their racial/eugenic policies and can be seen as subtly questioning them.

中文翻译:

布鲁诺·舒尔茨 (Bruno Schulz) 1936 年出版的著作《医学遗传学研究方法论,特别是精神病学》

1936 年,布鲁诺·舒尔茨 (Bruno Schulz) 根据他在德国精神病学研究所的经历,发表了第一篇详细的、长达一本书的精神病学遗传学研究方法论评论。重点放在亲属的正确选择和孟德尔传播模型所需的确定校正上。双胞胎研究被认为是生育率降低对风险模式的影响。对于现场工作,舒尔茨强调了建立信任、保密、附带线人以及使用医疗和其他行政记录的重要性,所有这些都最好存储在个人档案中。回顾了几种年龄校正方法。舒尔茨提供了这些问题和其他问题的详细代数处理,包括病因同质性检验和实例。他强调了精神科遗传学研究中的两个基本问题:(i) 其与最佳诊断边界的相互依赖性,而最佳诊断边界很少为人所知;(ii) 临床样本的遗传同质性。考虑到这些问题,他对寻找孟德尔传播模式持悲观态度。他认为 19 世纪精神病学基因研究的主流方法——“遗传负担”——是粗糙的,并且会因家庭规模而产生偏差。尽管本书是在德国纳粹权力巩固时期写成的,但本书没有任何地方认可他们的种族/优生政策,并且可以被视为巧妙地质疑它们。
更新日期:2023-11-06
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