Medical research is about people, and research studies often rely heavily on the involvement of people or patients. In many studies, in order to advance our understanding of health or disease, participants have their DNA sequenced, yielding large amounts of information; but what about individual genetic findings that indicate increased risk of cancer or other conditions? Should patients have access to their own research results – and what might the implications of that be?
In a world-first study of its kind in cancer, researchers from the Garvan Institute of Medical Research have analysed the complexities involved in returning genome-scale research results to study participants, and assessed the impact on their clinical care and health outcomes.
The study concludes that the benefit of returning results can be substantial and valuable, even though it is labour-intensive and the rates of finding clinically applicable information are likely to be low in large-scale genomic studies. The findings were published earlier this year in the journal Genome Medicine.
The study was performed by the Australian Pancreatic Cancer Genome Initiative (APGI), a global research enterprise based at Garvan that aims to accelerate the translation of scientific discoveries to improve outcomes for pancreatic cancer patients.
Amber Johns, Project Manager of the APGI, and one of the lead researchers on the study, says, “When individuals donate their samples to research, they might not think very much about what the findings could mean for their relatives; however, this could be really important - after all, our DNA is inherited material, we get it from our parents and we pass it on to our children. So research could uncover, for example, clues in an individual’s DNA that point to familial risk of undiagnosed medical conditions.”
As genomic technologies advance, and the cost of genome sequencing decreases, increasing numbers of studies are mapping the genomes of larger and larger cohorts of cancer patients. Studies such as those at the APGI and Garvan are providing valuable insights into prevention, early detection and treatment of cancer.
Ms Johns explains, however, that there is ongoing debate in the global genomics research community about when returning individual results to study participants is appropriate, feasible, or worthwhile.
“It has been shown that returning individual research results from genomics studies is a complex endeavour that needs to be well-thought out. Missing from the discussion are detailed reports on the experience of doing so, and importantly, on the clinical impact it can have over a protracted period of time,” she says.
“In Australia, we have recognised that this is something to be approached carefully. The Australian National Statement on Ethical Conduct in Human Research (2007) directs researchers, where any information is discovered that has potential importance to the future health of participants or their relatives, to have an ethically defensible plan to disclose or withhold that information.
“Perhaps more importantly, at the APGI we know that cancer patients who participate in research want to know about important results that may impact their health – or the health of their loved ones. In fact, 98% of people in our study requested this information, and we believe they have the right to receive it.
“Sharing the benefits of research with the broad community has always been ingrained into our work at APGI and is our responsibility as researchers. We make all of our genetic data sets publically available to the research community, but we also now recognise the importance of sharing individual information with study participants.”
Ms Johns and the APGI previously developed a framework that details a process to guide the communication of “clinically actionable” results to individuals.
In the new study, they applied the framework to 392 individuals from Australia and overseas who provided clinical samples for the APGI’s genomic research. The researchers assessed the presence of mutations in 130 genes with known association with risk of pancreatic cancer or other cancers. Any gene variant classed as pathogenic or likely pathogenic was assessed by a multidisciplinary team that included clinicians, pathologists and genetic counsellors, and results that were deemed clinically actionable were communicated to the participants.
In all, results were returned to 20 people (approx. 5%), and of these, a clinical difference was seen for seven: five had consultation and have ongoing management within a clinical genetics service, and two individuals with identified BRCA2 mutations had their clinical treatment changed due to the discovery.
“The information was hugely valuable to these seven people,” explains Ms Johns.
“For two of them, it changed the course of their cancer treatment, meaning a more personalised approach could be taken to treating their cancer.
“Although the numbers might seem small, we know from the study that more than half of the participants who received information acted on it. So the process stands to be of significant value if we can steadily work to remove the procedural and institutional barriers to returning individual results.
“By returning such genetic information, we are equipping individuals with potential ability to prevent cancer developing in them or their families in the future.”
Ms Johns hopes that studies such as this will encourage the Australian and other governments to support researchers and invest in returning research results to individuals.
“We owe study participants a great debt. Without their willing involvement in research, we would not be able to carry out the work we do. So, I see it as crucial that we strive to inform them, as far as is practicable, of information that could impact on their or their family’s health, now and in the future.”
However, Ms Johns points out that the process of assessing and returning the information is by no means trivial.
“Returning results takes the expertise and time of many clinicians and scientists, which is costly, and this in turn impacts on feasibility. I hope that in the future, the financial cost of returning research results will be recognised and funded by government funding agencies,” she says.
Ms Johns was invited to present and discuss the findings with international experts at the International Society for Biological and Environmental Repositories annual meeting in Toronto, Canada in May this year.
Ms Johns discusses the findings further in an APGI news post.