Evaluating genetic counseling for family members of individuals with schizophrenia in the molecular age

Abstract

Background: Myths and concerns about the extent and meaning of genetic risk in schizophrenia may contribute to significant stigma and burden for families. Genetic counseling has long been proposed to be a potentially informative and therapeutic intervention for schizophrenia. Surprisingly, however, available data are limited. We evaluated a contemporary genetic counseling protocol for use in a community mental health-care setting by non-genetics professionals.

Methods: We used a pre-post study design with longitudinal follow-up to assess the impact of genetic counseling on family members of individuals with schizophrenia, where molecular testing had revealed no known clinically relevant genetic risk variant. We assessed the outcome using multiple measures, including standard items and scales used to evaluate genetic counseling for other complex diseases.

Results: Of the 122 family members approached, 78 (63.9%) actively expressed an interest in the study. Participants (n = 52) on average overestimated the risk of familial recurrence at baseline, and demonstrated a significant improvement in this estimate postintervention (P < .0001). This change was associated with an enduring decrease in concern about recurrence (P = .0003). Significant and lasting benefits were observed in other key areas, including increased knowledge (P < .0001) and a decreased sense of stigma (P = .0047). Endorsement of the need for genetic counseling was high (96.1%).

Conclusions: These results provide initial evidence of the efficacy of schizophrenia genetic counseling for families, even in the absence of individually relevant genetic test results or professional genetics services. The findings support the integration of contemporary genetic counseling for families into the general management of schizophrenia in the community.

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

Fig. 1.

Proposed workflow algorithm for genetic counseling for schizophrenia (c 2012). A “complex family history” would include, eg, multiple family members with schizophrenia and/or other psychotic disorders, known consanguinity, or other medical illnesses of concern. Standard genetic counseling involves (1) information giving (“education about inheritance, testing, management, prevention, resources and research”), (2) risk assessment (“interpretation of family and medical histories to assess the chance of disease occurrence or recurrence”); and (3) support (“counseling to promote informed choices and adaptation to the risk or condition”). See Hodgkinson et al. for empiric recurrence risk ranges and primary sources. Note that these crude risk estimates must be interpreted with caution, as they represent averages from diverse historical studies and can sometimes be modified based on an individual family’s circumstances (see text). ASD, autism spectrum disorder; MCA, multiple congenital anomalies; MR, mental retardation.

Fig. 2.

Interest in genetic counseling amongst family members of individuals with schizophrenia. The source patient population was recruited from two community mental health clinics.

Fig. 3.

Participants’ responses to selected items prior to genetic counseling. (a) Estimated risk of recurrence to a specific family member vs concern about familial recurrence. (b) Estimated risk of recurrence by qualitative description of risk. (c) Primary cause of probands’ schizophrenia, as perceived by participants. (d) All possible causes of probands’ schizophrenia, as perceived by participants. See Methods section for item details. Cause coding key: 1 = Stress of worry, 2 = Hereditary - it runs in my family, 3 = A germ or virus, 4 =Diet or eating habits, 5 = Chance or bad luck, 6 = Bad parenting, 7 = Pollution in the environment, 8 = Own behavior, 9 = Negative thinking, 10 = Family problems, 11 = Overwork, 12 = Alcohol, 13 = Genetics - genes and DNA, 14 = Drug use, 15 = Bad life choices, 16 = Childhood trauma, 17 = Head injury, 18 = Something that happened during pregnancy or at birth, 19 = Other.

Fig. 4.

Selected significant and lasting benefits of genetic counseling for schizophrenia. (a) Participants’ estimated risk of familial recurrence to a specific family member (dashed line indicates mean personalized recurrence risk assessment). (b) Participants’ concern related to familial recurrence. (c) Participants’ perceived knowledge about the illness. (d) Participants’ sense of stigma. See Methods section for item details. All summary data and test statistics are presented in supplementary table S4. Error bars represent upper 95% confidence intervals.