Genetic Counseling Program

Untitled Document

Genetic Counselors’ Knowledge and Utilization of the Implications of the Cognitive and Behavioral Phenotype of Fragile X Syndrome.  By Asheley Supik

The behavioral and cognitive phenotypes of Fragile X syndrome have been well characterized. However, there is little information about genetic counselors’ knowledge of the details of these phenotypes, the implications that the phenotypes have for affected families, and if this information is addressed by genetic counselors with families of patients who receive a diagnosis of Fragile X syndrome. This study surveyed pediatric genetic counselors to assess their knowledge of the interventions implicated by the behavioral and cognitive phenotypes of Fragile X syndrome and the frequency with which they discuss this information with families receiving a diagnosis of Fragile X syndrome. This study also assessed genetic counselors perceptions of the relevance and utility of this information and barriers to addressing this information with families. Many of the participants indicated that they discussed the information about the interventions indicated by the cognitive and behavioral features of Fragile X syndrome with parents of affected children, and participants generally perceived this information to be relevant to the practice of genetic counseling. However, participants overall scored low on the knowledge assessment. These results indicate a need for educational resources for genetic counselors and patient education materials for parents and caregivers of children with Fragile X syndrome.

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  • "I chose to attend UNCG because of its shared learning environment and the access to some of the leading institutions in the country. "

  • "UNCG is a great fit for me. The program directors have extensive experience in the world of genetic counseling and provide you with opportunities to work with some of the best medical centers in the country. Our location allows us to have expert guest lecturers, many of whom you also get to work alongside or observe in your clinical rotations in your second year. We also have some really wonderful and unique opportunities as a part of this program: we observe in syndrome specific support groups and clinics, tour genetic laboratories, and are matched with a family with a genetic disease to learn what it is like to live with a genetic condition. Finally, our directors are genuinely invested in each of us, and care about our success and getting to know each of us personally."

  • "The director and assistant director do their best to ensure that our program provides a collaborative learning experience.  Both are active members of the Genetic Counseling community and strive to introduce you to all aspects of this field.  We also have renowned clinical sites and the beautiful state of North Carolina at our disposal.”