Perspectives on Genetics Research and Cures for Sickle Cell Disease in Jamaica

Abstract

Background: Sickle cell disease (SCD) is the most common genetic disorder of the blood. Jamaica has the highest recorded SCD prevalence in the Caribbean (0.65%). SCD treatment options are limited though new genetics research technologies such as gene editing and gene therapy show great promise as SCD cures. An ethical framework based on social and cultural contexts must inform the conduct of genetics research and the introduction of these technologies to the Jamaican SCD population. Methods: This qualitative cross-sectional study used semi-structured in-depth interviews to investigate perspectives on genetics research and cures for SCD and the social, cultural and ethical factors related to these perspectives among 10 SCD healthcare providers, 10 SCD patients and 9 parents affiliated with the Sickle Cell Unit (SCU) in Kingston Jamaica. Results: Though they expressed some skepticism, participants were optimistic about genetics research. They believed it would lead to improved SCD treatment and advance SCD knowledge. Attitudes towards genetics research also pointed to potential ethical issues regarding autonomy, confidentiality and benefit sharing. Participants also viewed SCD cures positively, though 4 patients revealed they had no interest in receiving a SCD cure. Participants also described a number of social and cultural factors such as socioeconomic issues, stigma and information seeking behavior that contextualized these perspectives. Conclusions: We propose a framework that integrates these perspectives, and the social and cultural contexts to guide SCD genetics research and the introduction of gene-based SCD cures in Jamaica. Researchers in genetics must work closely with the SCU to ensure that participants fully understand study aims and methods, and develop benefit-sharing models that will ensure that participants and the wider Jamaican SCD community benefit from research to which they contribute. As SCD gene-based technologies become more readily available in Jamaica in the long term, the local health system must prioritize related professional and public education and programming, as well as social and counselling services to adequately prepare patients and parents to receive these technologies.