Medical geneticists’ discussion of psychiatric risks during diagnosis of 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22qDS) affects 1/4,000 newborns. People with this condition can have various medical problems, and approximately 30% develop psychiatric illness such as bipolar disorder or schizophrenia. A recent study explored parents’ experience of receiving a diagnosis of 22qDS for their child. Families identified an unmet need for information from their healthcare providers about the psychiatric features of 22qDS, and indicated that risk for psychiatric illness was a major source of anxiety for them, compared to the other features of the syndrome. No studies have ever asked medical geneticists (doctors who are often involved in telling families about a diagnosis of 22qDS) about how they approach telling families about the various features of 22qDS. The purpose of our study is to find out if and when medical geneticists discuss with families different features of 22qDS, especially psychiatric risks. This project falls directly under several aspects of the mandate of BCMHAS. It explores the practices of physicians related to psychiatric disorders and helps inform the development of interventions to “enhance understanding and skills among service providers”.

Faculty Supervisor:

Dr. Jan Friedman


Emily Morris


BC Mental Health & Addictions Services




Life sciences


University of British Columbia



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