0202208040307
State completed
Start 2016-10-01
End 2022-08-04
Form updated 2022-08-04
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
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.