0202208040307
STARDIT ID:
0202208040307State completed
Start 2016-10-01
End 2022-08-04
Form updated 2024-10-13
Inputs
Jack Nunn (link)
ID: 0000-0003-0316-3254
Task: Conducted research, wrote thesis
Compensation: other(La Trobe University Postgraduate Research Scholarship)
Vijaya Sundararajan (link)
ID: 0000-0001-9387-1865
Task: Principal supervisor
Compensation: paid
La Trobe University Postgraduate Research Scholarship
Outputs and impacts
Impact: Disseminated knowledge and contributed to public discussion
Disseminated knowledge and contributed to public discussion Description single-sentence summary
Thesis (link)
Impact: Published open access thesis read by over 700 people (as of 2022.10.26)
Thesis (link)
Impact: Accessible on Internet Archive and downloadable in multiple formats
Guardian article (link)
Impact: Contributed to public debate and discussion on issues raised in the thesis, including rights of donor conceived people
Guardian article relating to the research and area of discussion, with reference to donor conceived people
Plain English Summary
All life is made from code, from DNA. Human genomics research is the study of all the DNA in humans (the genome), together with the technologies that allow it to be analysed. When learning from genomics research is applied to human health, it is called genomic medicine, and it can improve lives.
In the next five years, it is estimated that nearly two billion people worldwide will have had their DNA sequenced. How can we ensure that future genomic research benefits everyone? How can we avoid a future where only those who can afford it are able to access those benefits? How can we involve people in genomic research, to maximise public health benefit?
Involving people in genomics research means sharing power, giving the public, patients and health technology consumers more control around decision making. Involving people is the best way to ensure genomics initiatives reflect the diversity of priorities in populations. It has been widely demonstrated that involving people in research improves the relevance and equity of research. Involving people increases public trust, acceptability and participation in genomics. It can also improve recruitment, ethical oversight and ultimately the quality of research outcomes. If genomics initiatives do not align with people’s values, there is a risk that entire populations (in particular those people who are at greater risk of exploitation or under-represented, such as Indigenous peoples) will not participate in future initiatives, affecting the potential positive impact of genomics for decades. While funding bodies are increasingly requesting evidence of how people have been involved, data for evidence-informed ways of involving people in genomics research is lacking.
I am a public health researcher looking at genomic research and involving people in it. My PhD thesis explores how we can strengthen the principles of human rights in genomics, including using participatory action research. I have explored how can we do that practically, and what evidence is there about the best ways to involve people in other types of research, which can be applied to human genomics? For example, more people are discovering that a variation in their DNA might contribute to their risk of a disease, or that they or a loved one might pass on that risk to their children. Some people are told that the disease they are at risk of is so rare that it has not been well-researched, that there’s no treatment or that treatment is too expensive. Some people with very rare DNA variations feel that finding a community of other people with the same variation is their only hope of surviving the disease, by working together to improve research and treatments. However, the best way for people to get involved in shaping the future of genomics research is not always clear.
As part of this doctoral research, I have published a global review of more than 100 current international genomics research projects and discovered that only one-third of them report involving people. Applying learning from this, I co-designed research with four different groups to explore and evaluate practical ways of involving people. This represented a program of research across four different projects and domains of human genomics, each of which had different implications and challenges with regard to involving people the research cycle.
I worked with participants in one of the largest clinical trials in Australia, to co-design a multi-generational study that explored the preferences of multiple stakeholders, including how they’d like to be involved in the trial. I also worked with a group of people affected by a rare disease, helping explore how they would like to be involved in future genomics research using online discussions. After starting my PhD, I decided to have my own DNA tested and discovered that my biological grandfather was a prolific sperm donor who fathered up to 1,000 people. After consultation with ethical experts and a co-design process with the siblings, I worked with 20 biological relatives from this group to co-design online discussions about future genomic research. Finally, I also worked with remote Aboriginal communities to co-design genomics research protocols.
Learning from this doctoral research has shown that people want to be involved and want to make decisions about their own data, but they need support to get involved. It’s also demonstrated that researchers need to involve people in designing involvement plans, using evidence-informed methods to do this.
While I’ve learned that involving people has positive impacts, evidence about the best methods remains limited. For that reason, I created a standardised way to report involvement and I’m now leading an international team of more than 40 people to develop ‘Standardised Data on Initiatives’ (STARDIT). The working Beta version of STARDIT can report on research initiatives around the world in multiple languages. It has already been used by Australian Genomics to report planned work exploring how to involve people in genomics research. STARDIT can help us answer the question, ‘What is the best way of involving everyone in shaping future research?’ Once we can answer this question, we can all be involved in making sure the benefits of genomics research are for everyone.
Executive summary
Background
Human genomics research is the study of all the DNA in humans (the genome), together with the technologies that allow it to be analysed. When learning from genomics research is applied to human health, it is called genomic medicine, and it can improve lives. Public involvement in research occurs when the public, patients, people affected by genomic variations of known or significance or research participants (hereafter ‘people’) actively contribute to the research process.
There is evidence that involving people in research assists with recruitment, improves its quality, relevance and acceptability, and promotes equity of research. Involving people in genomics research means sharing power by giving the public, patients and participants control of aspects of the research – such as data access. In many countries, public involvement in human genomics research initiatives has been acknowledged as a key priority. However, to date, there has been no detailed analysis of the features, methods and impacts of public involvement in human genomics research, and no examination of practical, evidence-informed ways to involve people.
Involving people in genomics research (and in population-wide genomic initiatives) is essential for public trust, support, funding, acceptability and participation. Involving people is also the best way to ensure that genomics initiatives reflect the diverse priorities of populations. In many parts of the world including Australia, demonstrating evidence of how people will be involved in genomics initiatives is now part of the requirements for funding applications. If genomics initiatives do not align with people’s values, there is a risk that entire populations will not participate in future genomic research. This would undermine the potential positive impacts of genomics for improving human health for decades to come, especially in the case of under-represented populations, or populations at greater risk of exploitation, such as Indigenous peoples. Although people are involved in genomics to a variable extent around the world, there is currently no standardised way to plan, report or evaluate how they are involved. To ensure that power is shared in culturally appropriate, culturally safe, transparent and cost-effective ways, those planning and funding future initiatives require new evidence-informed methodologies.
Research aims
The research aims for this doctoral research are to:
1: understand when and how people have been involved in human genomics research to date, and identify gaps that need to be addressed with new approaches and methods for involvement
2: apply a participatory action research method to human genomic research, using four case studies, in order to learn more about the process of involving people in genomic research
3: develop a standardised way of planning, reporting and evaluating involvement in order to improve future genomics research.
Research methods
This doctoral study was conducted in a public health research setting, as distinct from an ethical, social or psychological research setting. The work is intended to be pragmatic, while also developing and applying theoretical frameworks. Several reviews were undertaken, including a systematic scoping review of public involvement in genomics research. These reviews have informed the case study methodology used on the subsequent four case studies. The case studies used participatory action research methods to explore the views and perspectives of four different groups of people associated with different human genomics research studies. The thesis describes the participatory action research process used during the involvement activities, and the subsequent co-design and implementation of the studies, as well as their associated impacts.
The case studies used different methods to involve people in every stage of the research cycle, supported by learning and development resources shared in different formats. Two used an online text-based discussion platform, two used face to face meetings, and one also used telephone interviews. The different methods used, and any associated impacts were reported in a standardised way.
Case studies
1. Involving research participants from Australia's largest clinical trial and cohort study of more than 15,000 healthy, elderly research participants, to co-design a future multi-generational research study (ASPirin in Reducing Events in the Elderly study – ASPREE) 2. Involving people affected by a rare condition in shaping future genomic research through working in partnership with a rare disease charity (ausEE study) 3. Co-designing genomics research with one of the largest known groups of donor-conceived siblings in the world (Shared Ancestry study) 4. Involving Australian Indigenous peoples in co-designing a research protocol for a precision medicine project (Indigenous Precision Medicine project) Standardised Data on Initiatives (STARDIT) This thesis also describes the co-creation of Standardised Data on Initiatives (STARDIT), a standardised way of reporting on the planning, execution and evaluation of involving people in human genomics research and other initiatives. I conceived STARDIT and led an international co-design process to co-create this new framework. During the co-creation process I applied it to the four case studies. I used the STARDIT framework for reporting on the participatory action research process used in the four case studies from different prominent genomics research projects in Australia. The framework was also used to create standardised data for a cross-case analysis of preferences for involvement, methods of involvement, and the impacts of involvement across the four case studies.
Results
This thesis has developed and used a standardised way of planning, reporting on and evaluating stakeholder involvement in genomics research and other related initiatives. Learning from this research will help advance the field of involving people in genomics research.
Results from reviews
The narrative review demonstrated there is not currently enough data to complete a meta-analysis of quantitative or qualitative data about involvement in genomics research. It informed the decision that a systematic scoping review was the most appropriate method to search for relevant data. Findings from this review also suggested that methods of involving people guided by the paradigm of participatory action research were most likely to have impacts.
The systematic scoping review provided a useful ‘snapshot’ of current international genomics research projects, by using a database provided by the Global Alliance for Genomics and Health (GA4GH). While a third of initiatives reported involving people, only 10% of initiatives reported impacts. The limited reporting of involvement suggested there would be intrinsic value in developing a more systematic method of both reporting and evaluating how people are involved in human genomics research, as data from such reporting could provide the evidence required to inform future policy around involvement of the public in genomics research. The recommendations from this review informed the co-creation of STARDIT.
Results from Standardised Data on Initiatives (STARDIT)
STARDIT provides a standardised ways of planning, reporting and evaluating genomics research, including involvement. During this doctoral research, I co-created Standardised Data on Initiatives (STARDIT), a standardised way of reporting on involvement in genomic research and initiatives. The STARDIT system enables reporting in multiple languages and is applicable beyond public health genomics. It has already been used by projects beyond those described here, including by the Australian Genomics working group ‘Involving Australia’, and has been recommended for use in describing involvement in biobanks.
Results from case studies
As part of this doctoral research, STARDIT was also successfully used to map preferences (using the preference mapping tool STARDIT-PM), plan involvement and report the impacts of involving stakeholders across the four case studies (both research participants and study team members). In each case study, the process of involving people in the research led to positive impacts and outcomes, with no negative impacts or outcomes reported. Using STARDIT allowed these to be reported in a standardised way, while using STARDIT for the analysis made it possible to combine all the public domain data from the case studies and to categorise the data. This allowed comparison of STARDIT-PM data from 83 stakeholders in the three case studies in which preferences were mapped (by the facilitators of the online discussions in the ausEE and Shared Ancestry case studies, and by study team members from the ASPREE case study). By combining data about preferences for who should be involved in research from the Shared Ancestry and ausEE case studies, it was possible to show that 45 per cent of participants’ responses ‘widened’ to include a preference for more people to be involved in the research (N=43/95). For 43 per cent, preferences stayed the same (N=41/95), and in 12 per cent they ‘narrowed’ (N=11/95).
Overall, my results suggest there is inherent value in planning and reporting involvement in a standardised way, which allows the creation of data from which to make evidence informed decisions about effective ways of involving people. In this thesis, I have led the co-creation process to build a way of doing this that anyone can use, and demonstrated how it can be applied in multiple research settings as case studies. By reporting different case studies in a standardised way, I have shown how it is possible to combine the data in order to better understand data from multiple sources. In this thesis, I used this data to show that through the process of involving people in the genomic research, most participants’ preferences for who should be involved in genomics research ‘widened’ to include more people.
Discussion
Learning from these case studies can be applied to various research settings, but is particularly valuable for research involving populations at greater risk of exploitation– such as people affected by rare diseases or Indigenous populations, where stakeholder involvement is critical. The published outputs from this thesis have collectively received more than 43 citations, demonstrating the interest in the issues explored in this thesis. During this thesis STARDIT has been used by projects outside the scope of this doctoral research, including by a working group led by Australian Genomics, to report prospectively on how people will be involved.
In order to ensure that planning, reporting and evaluation of involvement in research increases equity in public health genomics and other fields, further ongoing co-development of the methods described here (including STARDIT) is required.
Conclusion
Greater involvement of stakeholders in global human genomics research has intrinsic value worldwide. In this thesis, I reviewed contemporary practice and applied theoretical constructs in the context of real-world genomic research to develop novel ways of reporting impacts, described in peer-reviewed case studies. My thesis has demonstrated that STARDIT can be used as a standardised way of planning, reporting and evaluating involvement in genomics research, which works across multiple human languages. STARDIT has been demonstrated as a systematic, practical and effective way to co-design, report on and evaluate public involvement in genomics research. The data created by STARDIT has potential to inform best practice in future genomics research, and other disciplines. Further work to co-develop more systematic ways of reporting and evaluating such involvement, and supporting ways of embedding this practice into research would be highly beneficial.