Rebecca Crimian
Capstone Project Committee: Sonja Eubanks, MS, CGC, Micki Gartzke, Sat Gupta, PhD (Statistical Consultant), Jennifer Sullivan, MS, CGC
Introduction: Treatment options for Krabbe disease have often been limited to supportive care of symptoms. Hematopoietic stem cell transplantation for the treatment of Krabbe disease, first reported in the medical literature in 1998, has been considered a successful treatment option if performed before the onset of symptoms in infantile cases. It has been hypothesized that genetic counselors, prenatal counselors specifically, may not have the information or resources necessary to discuss the option with patients.
Methods: A survey was designed to assess genetic counselors knowledge and practice regarding hematopoietic stem cell transplantation for the treatment of Krabbe disease and an application for an Educational Breakout Session at the NSGC Annual Education Conference in October 2007 was submitted.
Results: One hundred and forty one responses were available for final analysis. Of the respondents 89% were aware that stem cell transplantation was available for treatment of certain genetic conditions while only 31% were aware of Krabbe disease specifically, thus supporting the hypothesis. The EBS application was accepted for presentation at the NSGC Annual Education Conference.
Conclusion: Based on the results of the survey, education in the area of stem cell transplantation for the treatment of Krabbe disease is warranted. Education will be provided in the means of an EBS session at NSGC Annual Education Conference.