SHAPING A DIALOGUE: INSIGHTS FROM THE SICKLE CELL COMMUNITY ON GENETICS HEALTHCARE

Objective: Studies and professional organizations have promoted genetic counseling for individuals with sickle cell disease (SCD) and SCD carrier status. Because genetic testing within the sickle cell context has historically been tensioned by racial discrimination and stigma in the U.S., this study explored current opinions and experiences from stakeholders to inform ways to enhance the benefits and mitigate perceived harms of genetic counseling in the sickle cell context. We also queried perspectives on racialized versus ancestral views of SCD in the medical and broader communities. Methods: Five focus group discussions were conducted with 21 adults who have SCD. Open-ended questions and probes covered topics including experiences living with SCD, experiences with and perceptions of genetic counseling, perspectives on racialized views and ancestral framing of SCD. Transcribed discussions were coded and interpreted through inductive thematic analysis within a critical realism methodological paradigm. Results: Fifteen themes from the data were organized under four sections: Section (A) “Experiences in the Personal, Social, and Healthcare Contexts' highlights common experiences of individuals with SCD. In the healthcare context, participants expressed seeking partnership with healthcare professionals, stressing that effective communication as a key factor to collaboration. Barriers were explained to interfere with interactions and partnership goals. Individuals also described a low awareness of SCD in both the medical and greater communities, which can be consequential for those who live with the disorder. Section (B) “Dimensions of Decision Making” illustrates various psychological and social challenges men and women with sickle cell experience when making reproductive decisions. Section (C) “Perspectives on Genetic Counseling” reflect the majority’s belief that genetic counseling is beneficial for individuals to gain knowledge and learn about available options. However, discussions also illuminated concerns about its access and exposure. Responses also suggested that reproductive risk information delivered in genetic counseling can feel impersonal and/or threatening to patients, providing implications for clinical practice. Section (D) Perspectives on Racialized Views of sickle cell disease and on an Ancestral Framing. Participants perceived negative implications of racialized views of SCD, in the clinical, research, and public contexts. The ancestral framing of sickle cell disease received mixed responses