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Schizophr Bull. 2014 Jan;40(1):78-87. doi: 10.1093/schbul/sbs138. Epub 2012 Dec 12.

Evaluating genetic counseling for individuals with schizophrenia in the molecular age.

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Recent advances in schizophrenia genetics are shedding new light on etiopathogenesis, but issues germane to translation of findings into clinical practice are relatively understudied. We assessed the need for, and efficacy of, a contemporary genetic counseling protocol for individuals with schizophrenia.


After characterizing rare copy number variation in a cohort of adults with schizophrenia, we recruited subjects from the majority of individuals who had no clinically relevant structural genetic variant. We used a pre-post study design with longitudinal follow-up to assess both the profile of need and the impact of general genetic counseling on key knowledge-based and psychological factors.


Thirty-nine (60.0%) of 65 patients approached actively expressed an interest in the study. At baseline, participants (n = 25) tended to overestimate the risk of familial recurrence of schizophrenia, express considerable concern related to this perceived risk, endorse myths about schizophrenia etiology, and blame themselves for their illness. Postcounseling, there was a significant improvement in understanding of the empiric recurrence risk (P = .0090), accompanied by a decrease in associated concern (P = .0020). There were also significant gains in subjective (P = .0007) and objective (P = .0103) knowledge, and reductions in internalized stigma (P = .0111) and self-blame (P = .0401). Satisfaction with genetic counseling, including endorsement of the need for such counseling (86.4%), was high.


These results provide initial evidence of need for, and efficacy of, genetic counseling for individuals with schizophrenia. The findings may help facilitate development of a contemporary genetic counseling process that could optimize outcomes in the nascent field of evidence-based psychiatric genetic counseling.


copy number variation; genetic counseling; genetic predisposition to disease; genetics; schizophrenia; stigma

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