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Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project

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Journal of Genetic Counseling

Abstract

Individuals with 22q11.2 deletion syndrome (22q11.2DS) have an increased chance of developing a psychiatric 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. Further education of genetic counselors may be necessary to encourage discussion of psychiatric risk with these families. The goal of this project was to develop recommendations for genetic counselors to provide psychiatric risk information to families affected by 22q11.2DS. 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. The focus group data revealed three themes related to discussion of psychiatric risk: 1) Stepwise approach, 2) Discussing treatment options and reducing risks, and 3) Addressing stigma. These recommendations may be used as a foundation for a future clinical protocol to encourage discussion about the risk for psychiatric 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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Acknowledgments

This project was completed as a capstone experience report at the University of North Carolina at Greensboro. We thank the participants of the focus group, including Anne Bassett, Mindy Dodge, Bettsy Leech, and Elise Sannar, for their insightful and helpful comments on psychiatric risk communication in 22q11.2 deletion syndrome.

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Authors and Affiliations

  1. Genetic Counseling Program, University of North Carolina at Greensboro, Greensboro, NC, USA

    Sarah J. Hart & Nancy Callanan

  2. Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, 905 S. LaSalle St., GSRB I, Box 103857, Durham, NC, 27710, USA

    Sarah J. Hart, Kelly Schoch & Vandana Shashi

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  1. Sarah J. Hart
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  2. Kelly Schoch
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  3. Vandana Shashi
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Correspondence to Sarah J. Hart.

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Conflict of Interest

Authors Sarah J. Hart, Kelly Schoch, Vandana Shashi, and Nancy Callanan declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all participants for being included in the study. Additional informed consent was obtained from all participants for which identifying information is included in the acknowledgement section of this article.

Animal Studies

No animal studies were carried out by the authors for this article.

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Hart, S.J., Schoch, K., Shashi, V. et al. Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project. J Genet Counsel 25, 6–17 (2016). https://doi.org/10.1007/s10897-015-9910-0

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  • DOI: https://doi.org/10.1007/s10897-015-9910-0

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