SARAH HART

CAPSTONE

Capstone Project Committee:  Nancy Callanan, M.S., CGC; Kelly Schoch, M.S., CGC; Vandana Shashi, M.D., 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.

Since Graduation

Sarah has been a member of the Duke Pediatrics team since 2014, working in both clinical and research roles. She has helped to coordinate the Duke Down syndrome research program and has worked on multiple studies focused on improving health care in Down syndrome and improving understanding of a rare condition, Down syndrome disintegrative disorder. She has also served on the research review board for DS-Connect®, a registry through the National Institutes for Health for individuals with Down syndrome and their caregivers.

Recently, she has transitioned into a fully clinical GC role and is excited to be working in a greater number of different clinical settings. While she continues to work with the Down syndrome community through the clinics, she is also working in general genetics, neuromuscular, and 22q11.2 deletion syndrome clinics. She has served as a committee member for several capstone projects and continues to work with the UNCG program as a rotation supervisor.

She lives in Durham, NC with her husband Brian, two daughters (Elle, age 9 and Audrey, age 6) and their dog Rocky.