Project

Genomics Research and Involving People

Goal: Exploring ways that people can be involved in shaping the future of genomics research

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Jack S Nunn
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Background and objective: There is currently no standardised way to share information across disciplines about initiatives, including fields such as health, environment, basic science, manufacturing, media and international development. All problems, including complex global problems such as air pollution and pandemics require reliable data sharing between disciplines in order to respond effectively. Current reporting methods also lack information about the ways in which different people and organisations are involved in initiatives, making it difficult to collate and appraise data about the most effective ways to involve different people. The objective of STARDIT (Standardised Data on Initiatives) is to address current limitations and inconsistencies in sharing data about initiatives. The STARDIT system features standardised data reporting about initiatives, including who has been involved, what tasks they did, and any impacts observed. STARDIT was created to help everyone in the world find and understand information about collective human actions, which are referred to as 'initiatives'. STARDIT enables multiple categories of data to be reported in a standardised way across disciplines, facilitating appraisal of initiatives and aiding synthesis of evidence for the most effective ways for people to be involved in initiatives. This article outlines progress to date on STARDIT; current usage; information about submitting reports; planned next steps and how anyone can become involved. Method: STARDIT development is guided by participatory action research paradigms, and has been co-created with people from multiple disciplines and countries. Co-authors include cancer patients, people affected by rare diseases, health researchers, environmental researchers, economists, librarians and academic publishers. The co-authors also worked with Indigenous peoples from multiple countries and in partnership with an organisation working with Indigenous Australians. Results and discussion: Over 100 people from multiple disciplines and countries have been involved in co-designing STARDIT since 2019. STARDIT is the first open access web-based data-sharing system which standardises the way that information about initiatives is reported across diverse fields and disciplines, including information about which tasks were done by which stakeholders. STARDIT is designed to work with existing data standards. STARDIT data will be released into the public domain (CC0) and integrated into Wikidata; it works across multiple languages and is both human and machine readable. Reports can be updated throughout the lifetime of an initiative, from planning to evaluation, allowing anyone to be involved in reporting impacts and outcomes. STARDIT is the first system that enables sharing of standardised data about initiatives across disciplines. A working Beta version was publicly released in February 2021 (ScienceforAll.World/STARDIT). Subsequently, STARDIT reports have been created for peer-reviewed research in multiple journals and multiple research projects, demonstrating the usability. In addition, organisations including Cochrane and Australian Genomics have created prospective reports outlining planned initiatives. Conclusions: STARDIT can help create high-quality standardised information on initiatives trying to solve complex multidisciplinary global problems.
Jack S Nunn
added 2 research items
Plain English summary Research which follows a population of people over time is a valuable way to learn about what contributes to both wellness and disease. Some studies of this kind look at multiple generations and such studies have had significant positive impacts on public health. However, such studies are challenging to establish and expensive to maintain. It has been proposed that the existing ASPirin in Reducing Events in the Elderly Extension study (ASPREE-XT) would be a good basis for a future multigenerational research study (MGRS). There is evidence that involving potential participants in co-designing research can improve the quality of the study design, recruitment and acceptability of the research. A team of people including a current ASPREE-XT participant were involved in planning how potential participants would be involved in the co-design process. An advert was sent to 14,268 participants of the ASPREE-XT observational cohort study to invite them to be involved in the process of planning a future multi-generational research study. Fifty-nine ASPREE-XT participants were interviewed by telephone and 18 attended a face-to-face workshop event. We used a newly developed standardised format to plan and report how participant involvement activities positively impacted the study design (Standardised Data on Initiatives - Alpha Version 0.1). Involving participants positively impacted the proposed study design by improving the research objectives, developing protocols, influencing funding decisions and improving ethics applications. This case study provides evidence that including participants in the design of a research study positively impacted the study design, participants and researchers.
(1) Background: Genomic precision medicine (PM) utilises people’s genomic data to inform the delivery of preventive and therapeutic health care. PM has not been well-established for use with people of Aboriginal and Torres Strait Islander ancestry due to the paucity of genomic data from these communities. We report the development of a new protocol using co-design methods to enhance the potential use of PM for Aboriginal Australians. (2) Methods: This iterative qualitative study consists of five main phases. Phase-I will ensure appropriate governance of the project and establishment of a Project Advisory Committee. Following an initial consultation with the Aboriginal community, Phase-II will invite community members to participate in co-design workshops. In Phase-III, the Chief Investigators will participate in co-design workshops and document generated ideas. The notes shall be analysed thematically in Phase-IV with Aboriginal community representatives, and the summary will be disseminated to the communities. In Phase-V, we will evaluate the co-design process and adapt our protocol for the use in partnership with other communities. (3) Discussion: This study protocol represents a crucial first step to ensure that PM research is relevant and acceptable to Aboriginal Australians. Without fair access to PM, the gap in health outcome between Aboriginal and non-Aboriginal Australians will continue to widen.
Jack S Nunn
added 4 research items
Background There is currently no standardised way to share information about initiatives across disciplines such as health, environment, basic science, manufacturing and international development. As we face increasingly complex problems, such as global air and water pollution, the distinctions between disciplines can limit our ability to respond effectively. When data about initiatives are not reported in a standardised way, essential information is lost, along with opportunities for collaboration and comparison. ‘Citizen science’ and participatory action research are increasingly recognised as crucial methods to use to solve problems, as these methods can help ensure that initiatives are aligned with the priorities of those affected, thus redefining what it means to be a ‘researcher’. However, current reporting methods lack data about the ways in which different people are involved in initiatives, making it difficult to collate and appraise data about the most effective ways to involve different people. The Standardised Data on Initiatives (STARDIT) reporting system provides a way to share this data. Standardised data can inform effective ways to share power during the design, implementation and evaluation stage of initiatives. For example, when designing a response to an epidemic, standardised data can inform which affected individuals or organisations could be involved in the design of the response and which outcomes are most important.ObjectiveSTARDIT will enable many kinds of data to be reported in a standardised way across disciplines, helping people appraise initiatives and synthesise evidence for the most effective ways to involve people. MethodSTARDIT has been co-created in a collaborative way, informed by a number of reviews and guidelines. STARDIT development is informed by the participatory action research paradigm, and is being co-designed by people from multiple disciplines and organisations around the world, using a combination of face to face events, online events and online discussion and decision tools. STARDIT data is hosted using Wikidata which works across multiple languages and is both human and machine readable.Results Since its inception in July 2019, over 100 people from multiple disciplines have been involved in the STARDIT co-design process, including through participation in multiple online discussions and three face-to-face events. People from across the world accepted the public invitation to be a part of shaping development of the system by giving feedback on multiple versions, including people from Cochrane, John Hopkins University and the Health Research Authority UK. Four Alpha Version STARDIT reports have been published for a number of research projects. A working demonstration of the Beta Version was publicly released in February 2021 (ScienceforAll.World/STARDIT). It is hosted by Wikimedia Foundation servers under a Creative Commons licence.
Background: Human genomics research is growing rapidly. More effective methods are required for co-design and involving people, especially those from vulnerable sub-populations of inherently high interest to medical research. This case study documents how we worked with a large group of donor-conceived siblings who share the same sperm donor father, to explore how they might want to engage with and influence any future genomic research. Method: A participatory action research process was used to explore the views of a group of 18 known donor-conceived siblings; who are part of a larger group of up to 1000 people who share the same biological father. The discussion explored views about how the group would like to be involved in future research. Five members participated in co-design; 12 completed a pre-discussion online survey; and six participated in an online discussion forum and evaluation survey. The online discussion was led by one facilitator, supported by the study team. Results: Co-design informed the research process. Participants reported enjoying the overall experience of the surveys and discussion forum, which were perceived as inclusive and flexible. Most participants’ views regarding the value of involvement in research changed during the process, and ‘widened’ about who should be involved. Participants were supportive of future research being done with the siblings group. All who completed the final survey requested to remain part of the co-design process. Other themes in the online discussion included concerns about conflicting interests and a desire for research participation to improve the situation for people affected by assisted conception. The process informed later discussions in the sibling group about participating in a self-managed biobank and informed decision making about participating in genomics research. Conclusion: Findings from this study help inform how people from certain sub-populations should be involved in planning and defining their participation in genomic research; particularly those from more vulnerable or high-interest populations. This process provides a replicable and practical method of involving potential participants in co-designing genomics research using online discussions, with reported positive outcomes. Reporting this study using ‘Standardised data on initiatives (STARDIT)’ to report the process allows comparison with other studies.
Background There is evidence that involving potential participants and the public in co-designing research can improve the quality of the study design, recruitment and acceptability of the research, but appropriate methodologies for doing this are not always clear. In this study we co-designed a way of involving people affected by a rare genomic disease in shaping future genomic research about the condition. The aim was to report the process, experiences and outcomes of involving people in genomic research in a standardised way, in order to inform future methods of involvement in research co-production. Method Participants were recruited from an online community hosted by an Australian-based rare disease charity and were over the age 18 years. Once people gave consent, we shared learning resources with participants and invited them to complete an online survey before joining a two-week facilitated online discussion, followed by a second online survey. We used the novel tool ‘Standardised Data on Initiatives - Alpha Version 0.1’ (STARDIT) to map preferences, plan involvement and report any outcomes from the process, with quantitative data analysed descriptively and qualitative data thematically analysed. Results Of the 26 people who gave consent and completed the initial survey, 15 participated in the online discussion and 12 completed the follow-up survey. STARDIT was used to report six outcomes from the process, including 60% of participants’ responses showing a change towards ‘widening’ their view of who should be involved in research to include more people. Outcomes also included an improved understanding of research and how to be involved. Participants enjoyed online discussions, found learning resources useful and asked to stay involved in the research process. The partner organisation reported that a similar online discussion will be used in future research prioritisation processes. Conclusion Involving people in co-designing the process improved the study design, ensuring it met the needs of participants. Whilst the study includes participants from only one disease group, using STARDIT allowed us to map people’s preferences and report the methods and outcomes from involving people, providing a way for learning from this case study to inform future research studies beyond the discipline of public health genomics.
Jack S Nunn
added a research item
Public involvement in research occurs when the public, patients, or research participants are actively contributing to the research process. Public involvement has been acknowledged as a key priority for prominent human genomics research initiatives in many different countries. However, to date, there has been no detailed analysis or review of the features, methods, and impacts of public involvement occurring in human genomics research projects worldwide. We reviewed the reported public involvement in 96 human genomics projects (initiatives), based on a database of initiatives hosted by the Global Alliance for Genomics and Health, according to information reported on public domain websites. To conduct the scoping review, we applied a structured categorization of criteria to all information extracted from the search. We found that only a third of all initiatives reported public involvement in any capacity (32/96, 33%). In those reporting public involvement, we found considerable variation in both the methods and tasks of involvement. Some noteworthy initiatives reported diverse and comprehensive ways of involving the public, occurring through different stages of the research project cycle. Our findings suggest there would be intrinsic value in having more public involvement occur in human genomics research worldwide. We also suggest that more systematic ways of reporting and evaluating involvement would be highly beneficial, to help develop best practices. We are now working to apply these findings to four prominent genomics research projects in Australia, to co-design their studies and explore people’s views about involvement. These projects include a large cohort study of >15,000 healthy, elderly research participants, the Australian Indigenous Precision Medicine project, a group of patients and families affected by a rare immunological disorder, and an extended family of donor-siblings who share the same sperm-donor father. We have assessed the impacts of involving people at various stages of each project, from study design, to recruitment to ethical oversight and governance. We have created a standardised reporting framework to evaluate impacts across these studies. Learn more at https://scienceforall.world/stardit/
Jack S Nunn
added 2 research items
Public involvement in research occurs when the public, patients, or research participants are actively contributing to the research process. Public involvement has been acknowledged as a key priority for prominent human genomics research initiatives in many different countries. However, to date, there has been no detailed analysis or review of the features, methods, and impacts of public involvement occurring in human genomics research projects worldwide. Here, we review the reported public involvement in 96 human genomics projects (initiatives), based on a database of initiatives hosted by the Global Alliance for Genomics and Health, according to information reported on public domain websites. To conduct the scoping review, we applied a structured categorization of criteria to all information extracted from the search. We found that only a third of all initiatives reported public involvement in any capacity (32/96, 33%). In those reporting public involvement, we found considerable variation in both the methods and tasks of involvement. Some noteworthy initiatives reported diverse and comprehensive ways of involving the public, occurring through different stages of the research project cycle. Three notable initiatives reported a total of eight distinct impacts as a result of involving people. Our findings suggest there would be intrinsic value in having more public involvement occur in human genomics research worldwide. We also suggest that more systematic ways of reporting and evaluating involvement would be highly beneficial, to help develop best practices.
In the near future the affordability of genomic sequencing will make it as routine as a blood test, offering people a new frontier in understanding their own identity in relation to genomics and treatment pathways. Around the world, genomics developments of profound potential are already occurring. These range from extending individuals’ knowledge of their own genetic features, to enabling them to have their genetic makeup available for research, to contacting others who may share certain genes or mutations. However, without a clear ethical framework to guide the prioritisation of research and treatments, there is a risk that profitability will be the stronger force in influencing the shape of the research agenda, and thus, treatments to diseases which are available to us all. We need to take a giant imaginative leap to ensure that the public remains involved in every stage of genomics research, invited to be active partners in shaping the future of research that can improve lives.
Jack S Nunn
added a research item
There is a growing need to involve the public more in genomics research. High-profile genomics research initiatives have made public statements about the importance of involving people, yet there has been no review of how people are being involved in human genomic research. This study reviewed the public-domain websites of 96 genomics initiatives affiliated with Global Alliance for Genomics and Health (GA4GH) to document the frequency, method, tasks and self-reported outcomes of involving people in genomics research.
Jack S Nunn
added a project goal
Exploring ways that people can be involved in shaping the future of genomics research