Kilarski Laura L, Claus Isabelle, Binder Elisabeth B, Degenhardt Franziska, Domschke Katharina, Forstner Andreas J, Grabe Hans J, Heilbronner Urs, Müller Daniel, Nöthen Markus M, Radtke Franziska, Rietschel Marcella, Schulze Thomas G, Streit Fabian, Tebartz van Elst Ludger, Tüscher Oliver, Deckert Jürgen, Schulte Eva C
Klinik und Poliklinik für Psychiatrie und Psychotherapie, Universitätsklinikum Bonn, Bonn, Deutschland.
Institut für Humangenetik, Universitätsklinikum Bonn, Bonn, Deutschland.
Nervenarzt. 2024 Sep 24. doi: 10.1007/s00115-024-01737-y.
This review article provides insights into the role of genetic diagnostics in adult mental health disorders. The importance of genetic factors in the development of mental illnesses, from rare genetic syndromes to common complex genetic disorders, is described. Current clinical characteristics that may warrant a genetic diagnostic work-up are highlighted, including intellectual disability, autism spectrum disorders and severe psychiatric conditions with specific comorbidities, such as organ malformations or epilepsy. The review discusses when genetic diagnostics are recommended according to current guidelines as well as situations where they might be considered even in the absence of explicit guideline recommendations. This is followed by an overview of the procedures and the currently used diagnostic methods. Current limitations and possible developments in the field of genetic diagnostics in psychiatry are discussed, including the fact that, for many mental health conditions, genetic testing is not yet part of standard clinical practice; however, in summary genetic causes should be considered more frequently in certain clinical constellations, and genetic diagnostics and counselling should be offered where appropriate.
这篇综述文章深入探讨了基因诊断在成人心理健康障碍中的作用。文中描述了遗传因素在精神疾病发生发展中的重要性，涵盖从罕见遗传综合征到常见复杂遗传疾病。强调了当前可能需要进行基因诊断检查的临床特征，包括智力残疾、自闭症谱系障碍以及伴有特定合并症（如器官畸形或癫痫）的严重精神疾病。该综述讨论了根据当前指南推荐进行基因诊断的时机，以及即使在没有明确指南建议的情况下也可能考虑进行基因诊断的情形。接下来是对相关程序和当前使用的诊断方法的概述。文中还讨论了精神病学领域基因诊断当前的局限性和可能的发展，包括对于许多心理健康状况而言，基因检测尚未成为标准临床实践的一部分；然而，总体而言，在某些临床情况中应更频繁地考虑遗传因素，并在适当情况下提供基因诊断和咨询服务。
