Roos J L
Department of Psychiatry, University of Pretoria, Pretoria, South Africa.
Afr J Psychiatry (Johannesbg). 2011 May;14(2):105-11. doi: 10.4314/ajpsy.v14i2.1.
The expected identification of susceptibility genes for psychiatric disorders may bring new opportunities and expectations from patients and families for the clinical translation of research findings in psychiatric genetics. In this article information is provided about familial risk of schizophrenia with the theory behind individualizing risk of recurrence highlighted. Recent new findings regarding the new genetic frontier, Copy Number Variations (CNV), are summarized and the genetic architecture of familial and sporadic schizophrenia applicable to the clinical situation is reviewed. A scenario in which genetic testing could be applied in velocardiofacial syndrome (VCFS) type schizophrenia is debated. Referring to genetic discrimination in mental disorders, reference is made to the implementation of the Federal Genetic Information non-discrimination Act (GINA) of 2008 in the USA and the Mental Health Care Act of 2002 in SA.
对精神疾病易感性基因的预期鉴定可能会给患者及其家庭带来新的机遇,并使他们对精神疾病遗传学研究成果的临床转化抱有新的期待。本文提供了有关精神分裂症家族风险的信息,并着重强调了个体化复发风险背后的理论。总结了关于新的基因前沿领域——拷贝数变异(CNV)的最新研究发现,并回顾了适用于临床情况的家族性和散发性精神分裂症的遗传结构。文中还讨论了基因检测应用于 velocardiofacial 综合征(VCFS)型精神分裂症的一种设想。关于精神障碍中的基因歧视,文中提到了美国 2008 年的《联邦基因信息非歧视法案》(GINA)以及南非 2002 年的《精神卫生保健法案》的实施情况。