Decisions about gene therapy do not occur in isolation: Co-development of a website about treatment options for sickle cell disease Free

Background:

Gene therapy (GT) and hematopoietic stem cell transplantation (HSCT) are two potentially transformative options for patients with sickle cell disease (SCD). Both treatments are medically and psychologically demanding, as well as logistically complex and time intensive. To support shared decision-making and ensure patients are adequately prepared to make well-informed choices, clinical teams must communicate a substantial amount of complex medical information about each treatment, including their associated risks, benefits, and logistical requirements (such as timelines, supportive care, etc.).

A strong body of empirical evidence on informed consent indicates that these conversations are often sub-optimal, frequently leaving patients with an inadequate understanding of key aspects of the proposed treatment. Our prior work has shown that very few patients with SCD feel highly knowledgeable about GT or HSCT (PMID: 36975201).

Given the limited health literacy about these transformative treatments, and the challenges listed above, there is a need to develop high-quality, patient-centered educational resources about these therapies. Engaging patients in the development of these resources may help ensure they are accessible, relevant, and responsive to patient needs.

Methods:

Using user-centric design and a community partnership research approach, we recruited a regionally diverse panel of parents of children with SCD and adult patients with SCD through purposive sampling to capture a range of disease phenotypes and treatment experiences. An interdisciplinary stakeholder advisory group provided iterative input throughout the project.

We conducted eight virtual focus groups to foster community engagement and identify content priorities for our educational materials (Step 1: Needs Assessment). This process was followed by an on-site 2.5-day meeting (Step 2: Platform Development) with our community panel, advisory group members, and health communication experts. During the meeting, we solicited preferences for the design and functionality of a web-based educational tool and discussed best practices for building online trust within the SCD community. Participants from the community were then presented with 24 questions related to transformative treatments and asked to rank their top 10 in order of importance. These rankings were used to prioritize educational content.

Website development proceeded with iterative feedback from all stakeholders, focusing on readability, visual appeal, and usability. The initial website was subsequently evaluated by a broader group of community stakeholders (Step 3: Usability Testing and Refinement). Participants completed predefined tasks and provided feedback via surveys and focus groups, guiding further refinement of the tool.

Results:

Step 1: Focus group discussions underscored the complexity of decision-making, especially regarding conditioning toxicity, potential impacts on future fertility, and the unknown long-term risks of gene therapy (GT). Participants emphasized that transformative treatments be considered alongside disease-modifying therapies such as hydroxyurea and chronic transfusion, rather than in isolation.

Step 2: Participants expressed a strong preference for a web-based tool encompassing all SCD treatment options, enabling users to easily compare the risks, benefits, and long-term trajectories of each approach. They recommended that the site provide clear definitions of medical terms, present both lay and scientific information, and offer links to additional patient resources.

Through this community partnership we created mySCDstory.org, an educational website about SCD treatment options. The tool uses graphic storytelling to follow a patient through four possible treatment pathways—GT, HSCT, disease modifying medication, and chronic transfusion therapy—from age 13 to 34. Parallel narratives in an interactive format allow users to explore and compare each treatment option at their own pace.

Conclusion:

MySCDstory.org is a patient-centered, co-developed resource for exploring SCD treatment options, with a particular emphasis on transformative therapies. Optimized for both mobile and web platforms, the site is continuously evolving, with additional content and implementation research underway. MySCDstory.org serves as a valuable tool for clinicians and patients to support informed discussions about treatment choices.