Participants

In total, ISQs were collected at 345 meetings. The number of responses varied between committees depending on meeting frequency (between weekly and quarterly).

From the 20 operational staff identified, 16 responded to the invitation and were interviewed. Participants were representative of all Australian jurisdictions and included five clinical or laboratory study/state leads “Lead” (31%); six state coordinators “Coordination” (37.5%); two study genetic counsellors “Study GC” (12.5%); two laboratory scientists “Laboratory” (12.5%); and one senior member of a participating organisation “Snr Member” (5%). For identification in this study, participants’ primary operational role was selected although many had secondary responsibilities (i.e., state coordinator and study genetic counsellor).

Findings by implementation phase and CFIR domains and constructs

Table 1 provides an overview of the CFIR domains identified (shaded) at the three implementation phases by dataset. Below, constructs of interest (in bold) are described within each CFIR domain and implementation phase. The integrated dataset is presented in Supplementary Table 4 and includes exemplar ISQs and interview quotes. CFIR constructs were not considered static and were able to evolve over the project timeline.

Table 1 Consolidated Framework Implementation Research (CFIR) constructs by dataset and implementation phase.Early implementation findingsIntervention characteristics

Present in the ISQs, was the complexity in scale and the intricacy of developing a clinically valid and useful gene list ‘Preparing a gene list is a huge and somewhat daunting task’ (Executive Committee). The need to trial and adapt components was acknowledged, especially to meet the needs of different contexts, improve accessibility, and respond to external factors such as the SARS-COV-2 pandemic. Whilst early efforts to design and package the program were considered successful, interview data indicated that in-house expertise was not fully recognised. As one participant put it:

‘…we could have taken more advantage of the expertise we had [within the team] … it’s actually the little things that make a big difference when implementing a program … what do your test kits need to be like? And how do you make it really simple or straightforward for your target population? Sometimes we think too much about the higher-level stuff and we don’t give enough attention to the details.’ (Coordination 03)

Outer setting

ISQs and interviews showed how early patient needs were identified, and resources developed (e.g., a protocol to follow-up with couples with an increased psychosocial risk). ISQs indicate how the project utilised cosmopolitanism (the degree to which organisations/teams are networked) with external bodies to progress the development of quality study materials, e.g., ‘The level of engagement in the Delphi group in designing the Decision Aid’ (Psychosocial and Epidemiology Committee).

Inner setting

The project’s structural characteristics included the benefit of housing the project within established organisations. Some workforce skills were lacking and hindered project development but, once acquired, progress improved ‘Now that [the] senior scientist [is] on board things are moving’ (Laboratory Committee). Networks and communication was a dominant construct with fluctuations in the perceived quality of communication between the numerous teams and locations, posing challenges to keeping relevant parties informed and unified ‘[it is] sometimes difficult to disseminate drafts and encourage collaboration’ (Education and Engagement Committee). The implementation climate within the study team indicated their prior experience and perceived tension for change, meant there was a clear readiness for implementation. Especially noted was the strong leadership engagement, and the adequate resources made available, although how the resources were allocated was debated, with funding to incentivise HCPs engagement considered less justified in comparison to the operational needs of the program. Whereas the implementation climate of the broader community centred on the supportiveness of the genetics’ community (laboratory and clinical) and the mixed receptivity of the HCPs whose role it was to offer RGCS to their patients. Whilst ISQs reported HCP enthusiasm, upon reflection, interview participants noted HCPs’ prior experience of and perceived compatibility towards incorporating RGCS into their practice affected HCP engagement and ease of implementation:

‘It was quite hard to get it started here … even though the project had been running elsewhere. There wasn’t a really good general knowledge out there, certainly not in General Practices, or obstetric practices … and the number of people already offering RGCS was extremely limited.’ (Lead 04)

Process

There was considerable overlap between planning, engaging, and executing. The ISQs focus on planning for the ‘soft launch’ whereas interviews reflected on areas of success (drawing on pilot studies) and improvement (e.g., greater involvement of Aboriginal and Torres Strait Islander communities at the outset). Interviews and ISQs noted the success of different HCP engagement strategies. ISQs tracked challenges and how well plans were being executed ‘challenging to meet deadlines—a lot of material that needs to be put together all happening in parallel’ (Education and Engagement Committee) and achievements ‘[Consumer] instruction sheet gone really well by increasing compliance rate substantially’ (Laboratory Committee).

Midpoint implementation findingsIntervention characteristics

Interview participants highly regarded the design, quality and packaging of the study materials. The streamlined approach was appealing to HCPs and couples, generating positive engagement with the program. Further, careful consideration during the design of sample collection instructions reduced laboratory and clinical workloads by delivering lower-than-expected re-collection rates. Program components that were adaptable to external factors (SARS-COV-2 pandemic) and project needs (e.g., GC workload) were welcomed, ‘COVID-19 has impacted the way we deliver education in some positive ways (flexibility, lower resource use, geographic spread, ‘catch-up’ sessions)’ (Education and Engagement Committee). In contrast, components that were not adaptable (e.g., collecting family history information) were considered burdensome throughout. ISQs and interviews indicated ongoing complexities associated with trialling implementation in a real-world setting. Noted were the difficulties of de-implementing or removing genes considering new evidence, and the required ‘flexibility [adaptability] in the gene panel and the value of road-testing [trialling] the panel thoroughly’ (Variant Review Committee). Clinical workloads were also impacted by the complex counselling required for ‘increased chance’ couples who already had children or where genes varied in phenotype.

Outer setting

ISQs tracked the progress of developing resources to address patient needs to increase the accessibility of screening, including re-designing the waiting-room poster in collaboration with Aboriginal health services. One committee was surprised at the challenges associated with addressing accessibility ‘The length of time it has taken Mackenzie’s Mission to address accessibility of the project in terms of languages other than English, and in format for sight impaired individuals.’ (Engagement Committee). Feedback and monitoring of resources were considered valuable to continuing development ‘The amount of time [it takes] to recruit a non-English speaking couple shows the benefit of having translated materials’ (Operational team).

Inner setting

Interview participants noted the importance of networks and communication to facilitate operating at a national scale. The program model fostered new relationships between genetics services and HCPs which interview participants felt would strengthen future service delivery. Formal (via recurrent meetings) and informal (via strong working relationships) communication between clinical and lab staff was considered by interview participants to provide access to knowledge and information. Effective communication was perceived to enable national collaboration, easy flow of information, and consensus on decisions to implement a consistent and high-quality national program. In particular, the weekly variant review committee was highly valued, as one participant put it.

‘The thing about the review committee for Mackenzie’s Mission is we have 1300 genes across all sorts of different diseases. Nobody has all that expertise … And we have 30 to 40 people every week from around the country. And so far, no matter what gene has come up, one of the clinical geneticists has seen a patient with that condition.’ (Lead 02)

Characteristics of individuals

ISQs reported increases in self or collective efficacy as the program scaled-up and attributes such as ‘innovation’ were celebrated in overcoming ‘curve balls’ (e.g., the SARS-COV-2 pandemic).

Process

Executing plans focused on striking the balance between opening screening to more people and laboratory capacity. Interviews and ISQs captured how despite being established as a couple-based screening program ‘1300 genes has been very ambitious…We thought that most couples would have no variants that need looking at and would be able to be whipped through but in fact that’s the exception rather than the rule and so that has meant that the lab side has been harder than we thought’ (Lead 01) and ‘low number of cases that have no variants to review (i.e., there is a lot of analysis)’ (State team) increased laboratory workloads. As such, longer turn-around times delayed opening the study to couples in early pregnancy and complicated clinical workloads as more couples became pregnant whilst waiting for results. ISQs tracked how plans to increase accessibility changed and one interview participant reflected upon the benefit of flexibility and adaptability to overcome the challenges of working in the real world:

‘It’s hard to anticipate what is actually going to happen… and we could come up with as many plans as we like while everything is in theory and then we got to the real world … But the good thing about Mackenzie’s Mission was that it was so flexible, and we could change things as we moved through.’ (Study GC 01)

Future implementation findingsIntervention characteristics

Interview participants considered a reproductive couple-based versus an individual approach delivered in primary care had relative advantage for future efforts as it reduces patient anxiety, program costs, and genetic service resources. Also discussed were the implications of funding models:

‘In an ideal world it would be a national program. Because a national program would be able to deliver consistency in terms of how it is delivered, what we are screening for, and address some of these equity of access issues. In reality, it is going to be a [publicly] funded test, which means you are purely funding the test and not the service that sits around it … [which] is probably 80% of the whole thing.’ (Coordination 03)

Complexity remained a dominant construct. Interview participants discussed simplifying the program by refinement of the gene list to ensure it aligns with screening principles, address concerns around informed consent, and deliver consistency in reporting of results, especially in the absence of a weekly variant review committee.

‘… it’s going to be a complex thing trying to make the process, if it was available to all, simple yet comprehensive and that is going to be a big challenge going forward.’ (Coordination 04)

Again, having quality consumer resources was perceived as key to future success and overcoming complexity.

‘… the front end is fantastic … we’ve got to minimise the genetic counsellor requirement at the front end by having fantastic resources for people to get the info.’ (Lead 01)

Further, reduced complexity was perceived as less resource intensive, allowing resources to be directed to addressing laboratory and clinical workforce capacity (e.g., robotics and well-designed and packaged consumer resources). One participant noted the success of the program model tested during the study and its use for future healthcare delivery.

‘The project was designed to be accidentally COVID proof. With everything happening online and with the postal kits, it’s really proved that model. And now with the way that healthcare has been influenced by COVID, it will be more and more acceptable for people to do something online and to not necessarily have face-to-face contact.’ (Coordination 01)

When thinking implementation at scale, cost became a salient theme, again a more complex program would increase costs.

‘The more grey you have, the more resources you have to put into sorting it out and the more expensive the program becomes. That’s why when you’re doing something at scale you have to keep it really simple.’ (Coordination 03)

Outer setting

Interview participants considered patient needs a future priority so that all individuals who wish to access screening are aware and able to access it, especially for Australia’s diverse cultural population including Aboriginal and Torres Strait Islander People. External policies that address financial barriers were perceived as a ‘top down’ approach to influence HCPs and consumer awareness and behaviour towards RGCS.

Inner setting

Resourcing for future RGCS was a concern raised in interviews with participants acknowledging the amount of human resourcing required, as one participant put it:

‘To run a national RGCS program you are going to need staff. You are going to need enough laboratory staff to be able to provide screening in an appropriate timeframe. You are going to need dedicated genetic counsellors … who are not just involved in recruiting but in all the aspect around people, putting family history on forms, all that sort of thing.’ (Lead 04)

Interview participants raised that future efforts should utilise the expertise of experienced individuals and professionals, such as bioinformaticians, who were considered invaluable during program development. ‘Get a really good bioinformatician, they are worth their weight in gold, and they really understand what you’re trying to achieve but also the technical side.’ (Coordination 01).

Process

Discussion around engagement shifted to reaching more HCPs, including finding a streamlined way to offer HCP education. Suggested were ‘webinars that are held every so often rather than ad hoc when someone is interested’ (Coordination 02) and building education into continuing professional development courses. Increased public awareness and a focus on cultural safety were discussed as key areas for future efforts, with school programs and engagement of Aboriginal health care workers suggested as avenues for RGCS education. Participants acknowledged the influence of external change agents such as government investment in RGCS as a critical factor to secure funding and sustainability.