Who’s on Your Genomics Research Team? Consumer Experiences from Australia

Partnering with consumers (i.e., anyone who has used, currently uses, or will use healthcare services, including families and caregivers [10]), is critical to producing meaningful outcomes, e.g., [11‒14]. The “Statement on Consumer and Community Involvement in Health and Medical Research” foregrounds the responsibility of researchers and research institutions to involve and partner with consumers and community, as the beneficiaries of the research [15]. While this is known, it is critical that we consider context. Research does not occur in a vacuum, rather it happens within a complex system [16]. The context interdependent nature of healthcare implementation is well recognised as an influencing factor on implementation outcomes [17], as all implementation efforts aim to impact the context and are in turn impacted by features of the context including the external system [18]. Further layers of complexity are added as the diverse needs of consumers are considered, particularly those who have for many years been mis-labelled as “hard-to-reach” [19]. Consumers and community therefore have a dynamic and influential relationship within the context of genomics [20], and it is essential that consumers have a dedicated seat at the genomics implementation research table to achieve the significant system change needed to successfully integrate genomics into healthcare.

Research teams that bring together diverse and equally important component expertise are better equipped to address complex challenges and maximise opportunities [21]. To consider implementation research from the outset requires a “multi-perspective” team, by which we mean a genomics research team needs to have individuals representing the numerous stakeholders’ groups involved. Genomic research teams need to include content expertise – i.e., clinicians, health scientists, working alongside individuals with expertise in understanding the context and environment expertise – i.e., implementation scientists and other interdisciplinary researchers including economists and bioethicists as well as, policy makers. Consumers, fit in both the genomic content setting – as without them there is no content – and are also part of the genomic implementation context and environment. If a collaborative approach to implementation genomic research is considered a beneficial and evidence-based practice, then are challenges in realising successful partnering with consumer and community and example of implementation failure? This may especially ring true for marginalised groups who have historically and systematically not been involved in research which in Australia includes, people with disability and their families, people from the LGBTQIA+ community, Aboriginal and Torres Strait Islanders, and individuals from culturally, linguistically and/or ethnically diverse communities [22, 23]. It is imperative, to ensure a narrowing of the health equity gap, that the implementation of genomic medicine is inclusive and informed by partnering with these diverse communities whose voices are traditionally unheard [24]. Barriers to participation can range from the simple, i.e., lack of information to more complex barriers, i.e., historical mistrust [25, 26]. Community based participatory research [27] can help address these challenges. We are seeing some improvement and progress with some communities, e.g., with increasing inclusion of First Nations people partnering in research that impacts them and their community in Australia [28].

We have some understanding of when and how consumer involvement can be most influential in implementation research and in research more broadly [29‒31]. If we consider the research translation pipeline (Fig. 1), we can see there is a role for consumers: T0 to inform basic research trials – consumers can contribute to identifying relevant priorities; T1 to support the translation to first in human trials – consumers can ensure participants are supported appropriately and; T2 to inform studies that move research from the laboratory to patient bedsides with patients in clinical settings – consumers can contribute to generation of evidence. For implementation research, noted in brackets in Figure 1, we are more focused on T3 and T4 where the input of consumers can guide appropriate and acceptable translation of genomic research into routine clinical practice and precision public health including co-creation of outcome measures. At this point, implementation researchers and consumers ask common questions with a shared intended outcome, how can people, or I, receive the benefits of research driven innovation? This is where the partnership begins. Including consumer voices with implementation considerations in research agendas, means thinking beyond the lifecycle of a research project to situating it within the T0-T4 translation research continuum [32]. Likewise, partnering with consumers will mean incorporating the voices of people who too are thinking beyond the lifecycle of a research project. Identifying who are the right consumers and whether there is advantage to having consistent or different consumer partnership along the T0–T4 continuum would be an important future research area of inquiry.

Methodologies that promote collaborative approaches to research vary, e.g. [33, 34], and here we offer three examples of consumer-focused genomic research ranging from community research to implementation science. Box 1 outlines the development of Involve Australia, a group designed to optimise consumer engagement. Box 2 describes a co-designed and co-led consumer research study from the COVID-19 lockdowns. Finally, Box 3 summarises a consumer led prioritisation of implementation strategies.

Participatory research employs direct engagement with those impacted by the research topic to build on local priorities and perspectives [36, 37]. Involve Australia (Box 1), actively sought out those who are or could be impacted by genomic research to draw on their experience to develop guidelines for engaging with consumers, including diverse communities, in genomic research [38].

Community empowerment, a process that facilitates communities to increase control over their lives [39], can enable communities to define priorities, decision making, develop and implement strategies to improve health [40]. The COVID-19 journalling study (Box 2) focused on the first stage of community empowerment to define priorities and set an agenda to provide focused support for future events in a timely manner to meet community needs [41].

Participatory implementation research seeks to combine the benefits of community engagement from participatory research with structured and analytical approach of implementation science [42]. The Live Well study (Box 3) sought to harness the knowledge and experience of the Genetic, Undiagnosed and Rare Disease community to identify and prioritise practical strategies that could impact living well [43].

It takes a village to raise a child and should take a team to raise an idea or co-create a way to implement the answer to a research question. Successful implementation is the result of an idea that goes forth and contributes to society, challenges status quo, travels with community, creates change, and makes a difference. An idea that fuels the next idea is simply a stepping stone to the final culmination of the idea and must be recognised as that. It is not an end in itself. Knowledge is not power, implemented knowledge is power. To implement knowledge, requires a structured, conscious process of collection and co-creation. Priorities change, science evolves and therefore needs a multi-perspective team approach. Research questions that evolve through stages could be classified as iterations focussed on knowledge accumulation. What would happen if implementation was always the target, and the expectation of a research agenda was always to build on what we know towards achieving evidence that is implementable and meaningful. Underpinning all consumer engagement with implementation research in genomics, as in other fields, is trust. Along the T0–T4 research continuum, research agenda are developed for different purposes and when done based on the collective experiences of community have proven successful in creating practical areas of research that are meaningful [43, 44]. Once a research agenda has been co-created, research teams need to work collaboratively to maximise the outputs and outcome from the diverse expertise. Mayer et al's. [45] three pillars model of trust provides a useful framework to reflect on this activity: (1) Ability: the actual or perceived capability and competence to deliver what is promised – i.e., can we as implementation researchers deliver what we promise with consumers; (2) Benevolence: the motivation behind the action, i.e., what is driving implementation researchers to engage with consumers; and (3) Integrity: the perception that a person adheres to a set of principles considered acceptable by others and acts consistently accordingly – i.e., do we as implementation researchers abide by the principles, we project such as calls for equity. To build lasting and sustainable implementation research relationships with consumers and consumer organisations, we as researchers need to ensure adhere to these three pillars.

Implementation research seeks to improve “the quality and effectiveness of health services and care” [22] p, 1 and is tasked with understanding the context and external environment in which the outcomes of the research can be implemented and create or deliver value. Different stakeholders measure research success differently and probably all make assumptions about each other. If all stakeholders had the same success measures or perhaps understood each other’s, it would be easier to understand the value paradigms of each other and how they relate to the objective – for people to live longer and better lives. For example, traditionally, success in genomics has been framed as clinical utility and diagnostic rate [46] rather than the longer term implementation outcomes of, e.g., acceptability and feasibility. This limited viewpoint negates the additional valued features of genomics, and we now recognise the benefit of the prognostic information generated and the impact on the family [47]. A broadening of value takes in the UN resolution for people living with rare disease:

Consumers measure by impact – what changed that improved quality of life or trajectory [49]. There is a simplicity about that; at an individual, family, or community level. It is easy to assume that research teams measure success by the delivery of the funding requirements, the objectives which may or may not have any focus on implementation. This is understandable as it is how funders measure success too. Research institutes also have their measures of success that can be complex and focussed across many indicators. There is clearly a mismatch that has evolved here. And we all need to ask ourselves, if we adopted agreed impact measures and then measured success accordingly, would we create better research and better research outcomes? Would people live longer and better lives? Building on the work of Fehlberg and colleagues [47], further research on impact could start to address this stakeholder mismatch. Implementation science, as a research discipline measures the success of an implementation effort by several outcomes including health, service, and implementation outcomes such as acceptability, feasibility, reach, and sustainability [50]. Further work is required in this field to answer questions including: If focused on relevant implementation outcomes what effect would measuring the impact of genomic research be on consumers? What if we could track research impact over the life course of the genomic implementation research or the impact on a person or family across their life course? What could this teach us about implementation research and adding value for consumers and the health system?

In this perspective, we discuss that delivering genomic healthcare that has real world impact requires multi-perspective research teams that include consumers. To realise the aspiration for people to live longer and better lives requires consumer partnership with the wider research team throughout the continuum of implementation in genomics research, and more specifically with the implementation research team as we embark on studies through T3 and T4. If we want to change the current research trajectory, changing what we do and how we conduct our genomics implementation research is imperative. But how do we create the change…We all have a role and unless we all perform, we fail – ourselves, the community, and the future. It is not what we know or don’t know that holds us back it is what we do and do not do. It is how we behave that will create and drive change. Integrating genomics into healthcare is complex but the partnership doesn’t have to be. In this article, we have bought attention to a “multi-perspective” partnership approach that establishes genomic research teams that build in implementation at the beginning alongside community partnership.

The authors have no conflicts of interest to declare.

This study was not supported by any sponsor or funder.

M.F., Z.F., and S.B. equally conceived and contributed to the work. All authors approved the final version to be published and are jointly accountable for the work.