Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome
Capstone Project Committee: Nancy Callanan, MS, CGC, Kelly Schoch, MS, CGC, Vandana Shashi, MD, MB BS
Introduction: Individuals with 22q11.2 deletion syndrome (22q11.2DS) are estimated to have an increased chance of developing schizophrenia or a psychotic disorder. While parents of children affected by 22q11.2DS typically receive counseling about risk for non-psychiatric health concerns, genetic counselors may be reluctant to discuss psychiatric risk (Martin et al., 2012). Further education of genetic counselors may be necessary to encourage discussion of psychiatric risk with these families. Purpose: The goal of this project was to develop potential recommendations for genetic counselors to provide psychiatric risk information to families affected by 22q11.2DS. Methods: The recommendations were developed by synthesizing resources in the literature about risk communication. These recommendations were refined following an online focus group meeting with five health care professionals who were recruited for participation from 22q11.2DS clinics across the U.S.A. and had provided care in the past year for at least one individual with 22q11.2DS. The focus group included discussion of key questions related to recommendations for psychiatric risk communication in 22q11.2DS. The transcribed audio recording was analyzed qualitatively and categorized according to the topic being discussed. Results: The focus group data revealed three major themes related to discussion of psychiatric risk: 1) Stepwise approach, 2) Discussing treatment options and minimizing risks, 3) Addressing stigma. Participants endorsed disclosing some psychiatric risk information at diagnosis with more information presented at follow-up sessions. Participants also endorsed providing management recommendations and suggested strategies to reduce feelings of stigma toward mental illness. Conclusion: The final set of recommendations may be used as a foundation for a future clinical protocol to encourage discussion about the risk for mental illness at an earlier point in the diagnostic process for 22q11.2DS and to provide improved information, support and resources to affected families.
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