Our paper shares experiences from the field of a national reproductive genetic carrier screening study through application of two qualitative research methods. 

1. The first was a longitudinal approach that allowed us to track how programme priorities shifted overtime and identify important factors influencing implementation. Longitudinal qualitative data is especially useful in complex health service research¹ as it provides a rich way of capturing the ‘here and now’ and understanding change.² For three years, members of ten study committees were asked to reflect as a group on the following prompts that were set as the final agenda item “what has gone well/not so well?” “what has surprised you? or what have you learnt?” and “what has changed?” We termed these Implementation Science Questions (ISQs).
2. Semi-structured interviews with key operational staff were used to gather in-depth reflections on how the programme functioned and perspectives on the future sustainability of reproductive genetic carrier screening programmes.

Figure 1 represents the two qualitative methods along the programme timeline and shows conceptually how they were integrated during analysis.

Overall, ISQs were collected at 345 meetings which generated a large dataset of short text qualitative data. At around the one-year mark, the ISQs recorded that the Executive Committee were, “Surprised we’re still doing these questions!” however, by the study end the ISQs were fondly thought as an “old married couple - can’t live with them, can’t live without them!’’ The ISQs gave the opportunity for those involved to record and reflect on experiences, as one meeting coordinator commented, “It’s always very interesting to look back over the past few months and see what we have learnt.”

During analysis the ISQs were integrated with the 16 conducted interviews using the Consolidated Framework for Implementation Research (CFIR). The CIFR was used to identify constructs of interest within early, mid-point, and future implementation phases. Importantly, our findings showed the value of the two methods as they captured different constructs within the CFIR which if reliant on one source of data would have otherwise been missed.

What did we learn?

Resources that are well-designed and streamline processes improve consumer and health care professional engagement and supports informed decision making (e.g., online portal housing education material and a decision aid)

Engaging non-genetic health care professionals requires a nuanced and context driven approach to accommodate varying skill and knowledge levels, confidence, and motivation

Screening approach, simultaneous couple-based reporting maximises clinical utility and minimises program complexity, saving laboratory and genetic counselling resources

National variant review committee enables access to specialist expertise across a wide range of rare conditions

Funding to include the cost of testing and quality pre- and post- test genetic counselling supports

Adaptability of programme components considered from the outset

Gene list iteration, laboratories need a mechanism to evolve the gene list over time

Communication between laboratory and clinical staff enables smooth operationalisation

Governance, future authorities involved in the implementation of programmes build on previous research and expertise

By applying an implementation framework, findings from this study may be useful for future effort towards building and/or sustaining reproductive genetic carrier screening programmes.

References

1. Calman, L., Brunton, L., Molassiotis, A. Developing longitudinal qualitative designs: lessons learned and recommendations for health services research. BMC Med Res Methodol. 13, 14 (2013).
2. Saldaña, J. Longitudinal qualitative research: Analyzing change through time. (Rowman Altamira, 2003)