Investigating the Potential Impact of Gene Therapy on Identity in Individuals with Hemophilia
Capstone Project Committee: Kristy Lee, MS, CGC, Randi Stewart, MS, CGC, Kristin Paulyson Nuñez, MS, CGC, Haimeng Zhang, PhD
Hemophilia is a genetic condition that significantly impacts an individual’s daily life. Individuals need frequent treatments causing significant financial burdens and can experience life-threatening bleeding episodes and spontaneous bleeds in the joints causing degenerative joint disease. Several treatments are available for hemophilia including factor replacement and most recently, gene therapy clinical trials. While gene therapy has projected medical benefit, little research has investigated how it may impact one’s psychological well-being. The study aimed to investigate current perspectives of hemophilia, its impacts an individual’s identity, and current perspectives regarding gene therapy in order to determine the perceived psychological impact of gene therapy treatment. Twenty-three individuals with hemophilia A or B responded to an online quantitative survey that was created to measure sources of identity and perceptions surrounding gene therapy. Recruitment occurred via Hemophilia of North Carolina, a non-profit Chapter of the National Hemophilia Foundation (NHF). Respondents reported that their hemophilia was one of many aspects of their identity. Individuals reported significant impact of hemophilia in their daily lives, suggesting incorporation into life choices. Participants expressed reservations regarding the efficacy of gene therapy and experienced a range of emotions such as happiness, feelings of relief, and nervousness related to the concept of gene therapy treatment suggesting uncertainty. Results suggest that successful gene therapy may impact significant life choices which has the potential to impact future identity formation. Addressing psychosocial concerns and exploring the impact upon one’s identity may be beneficial prior to gene therapy for hemophilia. Psychosocial or genetic counseling may be beneficial to address realistic expectations from gene therapy and to orient patients pursuing gene therapy for hemophilia to the adjustment process of life without some of their previous complications of hemophilia. Future studies should explore the direct impact of gene therapy for hemophilia upon identity rather than perceived impact.