Genetics of schizophrenia: communicating scientific findings in the clinical setting

Abstract

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.

Keywords: Schizophrenia; Copy number variations; Familial risk; Individual risk; Velocardiofacial syndrome