“If you know it, I’d like to know it too” – involving participants in genomics research

By Anna Middleton

We need to continue to ask people, in a multitude of ways, how they want to engage with the issues highlighted.

This blog post is based on the talk I gave at the launch of the Nuffield Council of Bioethic’s report The collection, linking and use of data in biomedical research and health care: ethical issues on Tuesday 3 February 2015 in London. I was asked to offer a response to their report, drawing on my findings from the GenomEthics project.
“If you know it, I’d like to know it too” – involving participants in genomics research
Big Data and Genomics

My career has explored, from multiple different perspectives, the impact of genomics on people. Genomics refers to the study of a person’s 20,000 or so genes. Given the almost infinite ways that people can be genetically different to each other, genomic research often needs to be done on a very large scale in order to be able to interpret the significance of findings, particularly a rare genetic change. So, Big Data and Genomics go hand in hand.

To give you an example, I’m currently part of the Deciphering Developmental Disorders (DDD) project at the Sanger Institute which seeks to offer cutting edge genomic testing to 12,000 children from the NHS with severe, complex, physical and/or intellectual disability. These children have exceptionally rare conditions that their doctors may never have seen before. Using an online database that contains large sets of health and biological data, the DDD project has managed to match specific genetic results with children at opposite ends of the UK, and has found a new diagnosis in more than 30% of the children tested so far.  This would not have been possible, at the scale and rate we have seen so far, if there hadn’t been the prior collection, linking and storing of biomedical data from similarly affected children.

My current research has gathered the views of just under 7,000 people on how they think genomic research studies could be conducted. The participants in our study were members of the public, health professionals and genomic researchers. Some knew absolutely nothing about genomics; others were experts in the field. We asked them to imagine that they were a research participant in a genome sequencing study. We explained what this was, and what sort of data a genome study looks at. Did they expect to receive personal results? If so, what sort of data were they interested in? What would they do with it? Did they expect researchers to keep analysing their data long after the study was finished? Did they want a flexible or dynamic consent process that enabled them to update the information they received or didn’t receive over time?

Whilst all social sciences data should be reproduced in multiple populations before drawing any broad conclusions, our survey offers a first attempt, on a large scale, to explore attitudes to genomic research.

We have participants from 75 different countries, including Russia, the UK, US, France, Australia, India, China and South Africa. But, irrespective of where people lived in the world, the overwhelming message was that participants were excited by the prospect of genomic research. They wanted to participate, they wanted to contribute to the global understanding of human health and they welcomed the opportunity to learn new information about themselves.

98% of participants said that if it were possible to receive genetic information linked to serious or life-threatening conditions that could be prevented – they would want to know. They were interested in data for personal use to protect their health. 94% were interested in knowing information about how they respond to medications or drugs, 43% were even interested in uncertain information that cannot be interpreted at the moment. There was a sense that ‘if you know it, I’d like to know it too’.

Even if participants didn’t understand what it meant or how it would be useful, they wanted to be given the opportunity to learn and be connected to the research outcomes. We explained clearly the limitations of genomic data and yet still given this caveat, participants cared that genomics research happened. Clearly this has relevance for future management of expectations.

When asked to explore their reasoning, participants were hopeful that genomics would make a difference to health. However, many also said that they were concerned about the potential for insurance companies to use genomic data to discriminate, but this was not enough to stop them wanting genomic research to proceed.

Despite such concerns there was still a strong indication that participants hoped to be involved in research design. They didn’t want to be a detached partner – simply providing a sample and then forgotten about. They wanted to be a respected associate in the process, part of the conversation. This reflects well with sentiments provided in the Nuffield Council on Bioethics’ report.

In particular, I’d like to highlight a quote about the role of ‘participation’ in research from the Reflections and Conclusions section which chimes with our study results. It reads:

“Participation demonstrates respect for persons by involving them in the design of data initiatives (it enables them to engage in forming the conditions of a future in which they have a direct interest rather than merely responding to it) and is more likely to produce outcomes that secure their commitment and build trust.”

The common themes throughout our data, irrespective of geography, age or demographic background was that participants were supportive of genomic research and they wanted to be part of the journey to inform human health.

Another quote, again from the Reflections and Conclusions section, really speaks to the data that I have collected:

“The key to acting ethically with personal health information in a world of Big Data will be to maintain the engagement of, and oversight by, patients and other affected people not just as a new initiative is being developed, but as it evolves over time..”

I would like to conclude by offering my wholehearted support to the Council’s recommendation that social sciences research on both the benefits and harms of research for individuals, groups and society are conducted, to further inform this debate. Ethical and moral reasoning cannot exist in a vacuum; it has to be connected to the practical reality of what is feasible and the social reality of what this means to people.

We need to continue to ask people, in a multitude of ways, how they want to engage with the issues highlighted in the report.

Thank you to the Nuffield Council for giving me permission to re-post the blog written for them.