Patient, parent and provider perspectives on sickle cell disease genetics research in Jamaica.

Abstract

Advances in genetics and genomics research are revolutionizing the way we understand sickle cell disease (SCD) and approach its treatment and management. Much of this research has been conducted in high-income countries and so much of the available data is skewed towards these populations. Efforts are now being made to facilitate this research in low-and-middle-income countries (LMICs) through capacity building and strengthening. These efforts must also include understanding context specific SCD stakeholder perspectives and attitudes to guide genetics and genomics research in these populations. This qualitative study used semi-structured in-depth interviews to investigate perspectives on SCD genetics research among 10 SCD healthcare providers, 10 individuals living with SCD and 9 parents affiliated with the Sickle Cell Unit (SCU) in Kingston, Jamaica. Most participants showed support for or a willingness to participate in SCD genetics research as they believed it would lead to improved SCD treatment options and greater knowledge about the disease. Some patients and parents, however, seemed to conflate genetics research participation with receiving SCD treatment or health screenings, pointing to therapeutic and diagnostic misconceptions. Skepticism about genetics research also emerged among some participants due to concerns about loss of privacy, mistrust and fears of misuse, the potential time commitment and inconvenience, and fear of the unknown. Overall, Jamaican SCD stakeholders conveyed an openness towards SCD genetics research participation. However, researchers in genetics must be mindful of the power imbalances that exist between researchers and research participants in LMICs. Steps must be taken to ensure that communities in LMICs are not only able to make contributions to genetic studies, but also that they understand the research goals and the implications of their participation. Working alongside local researchers, providers, patients, and other interested parties will be a key element of facilitating trustworthy and impactful research and establishing trust within these communities.