Demkow U, Wolańczyk T
Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, Warsaw, Poland.
Department of Child Psychiatry, Medical University of Warsaw, Warsaw, Poland.
Transl Psychiatry. 2017 Jun 13;7(6):e1151. doi: 10.1038/tp.2017.106.
With the advent of post-genomic era, new technologies create extraordinary possibilities for diagnostics and personalized therapy, transforming todays' medicine. Rooted in both medical genetics and clinical psychiatry, the paper is designed as an integrated source of information of the current and potential future application of emerging genomic technologies as diagnostic tools in psychiatry, moving beyond the classical concept of patient approach. Selected approaches are presented, starting from currently used technologies (next-generation sequencing (NGS) and microarrays), followed by newer options (reverse phenotyping). Next, we describe an old concept in a new light (endophenotypes), subsequently coming up with a sophisticated and complex approach (gene networks) ending by a nascent field (computational psychiatry). The challenges and barriers that exist to translate genomic research to real-world patient assessment are further discussed. We emphasize the view that only a paradigm shift can bring a fundamental change in psychiatric practice, allowing to disentangle the intricacies of mental diseases. All the diagnostic methods, as described, are directed at uncovering the integrity of the system including many types of relations within a complex structure. The integrative system approach offers new opportunity to connect genetic background with specific diseases entities, or concurrently, with symptoms regardless of a diagnosis. To advance the field, we propose concerted cross-disciplinary effort to provide a diagnostic platform operating at the general level of genetic pathogenesis of complex-trait psychiatric disorders rather than at the individual level of a specific disease.
随着后基因组时代的到来,新技术为诊断和个性化治疗创造了非凡的可能性,正在改变当今的医学。本文植根于医学遗传学和临床精神病学,旨在成为新兴基因组技术作为精神病学诊断工具当前及未来潜在应用的综合信息来源,超越了传统的患者诊疗概念。文中介绍了多种选定的方法,从目前使用的技术(新一代测序(NGS)和微阵列)开始,接着是更新的选项(反向表型分析)。接下来,我们以新的视角描述一个古老的概念(内表型),随后提出一种复杂精致的方法(基因网络),最后以一个新兴领域(计算精神病学)收尾。文中还进一步讨论了将基因组研究转化为现实世界患者评估所存在的挑战和障碍。我们强调,只有范式转变才能给精神病学实践带来根本性变革,从而理清精神疾病的复杂性。如文中所述,所有诊断方法的目的都是揭示系统的完整性,包括复杂结构内的多种关系类型。综合系统方法为将遗传背景与特定疾病实体或同时与症状(无论诊断结果如何)建立联系提供了新机会。为推动该领域发展,我们提议开展跨学科协同努力,以提供一个在复杂性状精神疾病遗传发病机制的总体层面而非特定疾病的个体层面运行的诊断平台。