Development of an Online Scenario-Based Tool to Enable Research Participation and Public Engagement in Cystic Fibrosis Newborn Screening: Mixed Methods Study

Abstract

Background: Newborn screening aims to identify babies affected by rare but serious genetic conditions. As technology advances, there is the potential to expand the newborn screening program following evaluation of the likely benefits and drawbacks. To inform these decisions, it is important to consider the family experience of screening and the views of the public. Engaging in public dialogue can be difficult. The conditions, screening processes, and associated moral and ethical considerations are complex.

Objective: This study aims to develop a stand-alone online resource to enable a range of stakeholders to understand whether and how next-generation sequencing should be incorporated into the CF screening algorithm.

Methods: Around 4 development workshops with policymakers, parents, and other stakeholders informed the design of an interactive activity, including the structure, content, and questions posed. Stakeholders were recruited to take part in the development workshops via purposeful and snowball sampling methods to achieve a diversity of views across roles and organizations, with email invitations sent to representative individuals with lived, clinical, and academic experience related to CF and screening. Ten stakeholders informed the development process including those with lived experience of CF (2/10, 20%), clinicians (2/10, 20%), and representatives from relevant government, charity, and research organizations (6/10, 60%). Vignettes constructed using interview data and translated into scripts were recorded to provide short films to represent and provoke consideration of families' experiences. Participants were recruited (n=6, adults older than 18 years) to test the resulting resource. Study advertisements were circulated via physical posters and digital newsletters to recruit participants who self-identified as having a reading difficulty or having English as a second language.

Results: An open access online resource, "Cystic Fibrosis Newborn Screening: You Decide," was developed and usability and acceptability tested to provide the "user" (eg, a parent, the general public, or a health care professional) with an interactive scenario-based presentation of the potential outcomes of extended genetic testing, allowing them to visualize the impact on families. This included a learning workbook that explains key concepts and processes. The resulting tool facilitates public engagement with and understanding of complex genetic and screening concepts.

Conclusions: Online resources such as the one developed during this work have the potential to help people form considered views and facilitate access to the perspectives of parents and the wider public on genetic testing. These may be otherwise difficult to obtain but are of importance to health care professionals and policymakers.

Trial registration: ClinicalTrials.gov NCT06299566; https://clinicaltrials.gov/study/NCT06299566.

Keywords: cystic fibrosis; decision-making; engagement; extended genetic testing; next-generation sequencing.

Figure 1

Cystic fibrosis newborn screening: you decide site structure.

Figure 2

Example of a question to encourage user engagement with the workbook content.

Figure 3

Example of a question to prompt immediate reflections after watching a filmed scenario. CFSPID: cystic fibrosis screen positive, inconclusive diagnosis.

Figure 4

Question to gather a final view of the user on the question: “How should extended genetic testing be used when screening newborn babies for cystic fibrosis?” CFSPID: cystic fibrosis screen positive, inconclusive diagnosis.

Figure 5

Thematic style.