Anna Middleton, Sanger Institute
Ninety-eight per cent of us would want to be told if we’re found to be carrying a gene linked to a serious underlying health condition. That’s according to a study of 7000 people by Anna Middleton from the Sanger Institute. The results are important because, by 2017, 100,000 people in the UK will have had their genomes sequenced. And as researchers probe that genetic information, genes associated with other diseases are going to come to light, as Anna explained to Chris Smith...
Anna - Yes, absolutely and people around the world are taking part in genetic and genomic research. Labs in universities across the world have thousands of samples belonging to research participants. It’s only really relatively recently that we’ve been starting to think, “Well, should we be actually feeding back data to those people that gave the samples to start with?”
Chris - Is that really what motivated you to do the study? We’re generating a lot of data and there isn’t really a policy or any kind of precedent in place as to how to handle it?
Anna - Yes. I guess traditionally, there's been quite a disconnect between the research participant and the researcher. Maybe the research participant has given their sample, handed it over to research, and the researchers just get on with it. So recently, we started to think, “Well actually, there's an awful lot of health related data in there. Should we be more connected to the research participant and think about sharing some of that?”
Chris - I suppose, one of the big questions with anything genetic is that whilst I personally may want to know genetically what my risk profile is, I have two parents, I have brothers and sisters potentially. If they are who I think they are – in terms of their relationship to me – once I know something about me, I actually know something about them too and there's an ethical consideration there.
Anna - Yeah, absolutely. and so, any data that would be shared should be done in a clinical environment with suitably prepared and trained health professionals who can deliver that information and think about the impact on the individual but also their family, and their children, and their parents, and their siblings.
Chris - Do people realise that though when they go for a genetic test or when they answer things like your questionnaire? You surveyed 7,000 people - "Would you like to know if you have a risk of some kind of underlying disorder?" Were they conscious of that consideration, because I must admit, until I began to think about your work and the questions you're asking, I hadn’t really thought about it from that perspective.
Anna - Yeah. We were very aware of needing to explain this really carefully. And so, what I did was I worked with a filmmaker to create 10 short films that sit within our survey. The films described the ethical issues raised by genomics and they explain this data is relevant to lots of different people. Do you still want to know? What we found is that people just actually felt quite excited by genomic data. They felt that it could have some value for them in protecting their health. It could be useful to them and they want to be part of the research process.
Chris - We did a little sort of mini survey on a very small audience – it’s not the 7,000 you looked at – at a live event we ran in Cambridge. Actually, with David Spiegelhalter, who is professor of the public understanding of risk at Cambridge University. He asked the audience, “If you could be told how long you're going to live for, would you like to know?” Now, all the kids in the audience said, “Absolutely. I want to know when I'm going to die. Therefore, how long I've got.” All the adults in the audience said, “No.” And he said, “Isn’t it interesting that when you're little and things seem very far away, you want to know the absolute black and white scenario, but as you get older, you're much more comfortable embracing a bit of risk?”
Anna - Actually, we found something different. So, we did actually look at lots of different age profiles and we found that the young and the old were just as interested in data. But where we did find a socio-demographic difference was between men and women. We found that men, irrespective of where they live in the world, were more likely to want access to more data and it was actually the women who were more cautious and said, “Actually, I’d like to know some things, but not others." Like uncertain data, "No, I'm not interested in that.”
Chris - Would there be off the back of your study some kind of framework put in place then so that when we do research and we take a sample from somebody that we do have some kind of ethical obligation, or some kind of relationship, going forward with them where we can pass on information?
Anna - Yeah. I mean, the findings of our research hopefully will be adopted into policy. What we’ve actually found is that although people say they want data, they also put a value on that data. So, they don’t actually expect it to be delivered to them at all costs. So, we did say, that in the research setting, “If the research question and answering that was devalued or compromised in some way by having to provide data to you, would you still want to know?” And people said, “No. Focus on answering the research question. We’ll forego our data. So, focus on doing good quality research first.”
Chris - What about a situation which actually, I was involved in? I did a study a long time ago when I was in Australia and we were looking at say, breastmilk for the presence or absence of a virus that might pass in breastmilk, but it could be linked to breast cancer in later life. Now, I managed to obtain breastmilk samples that have been frozen in a tissue bank for a nutritional study for many, many years. There was a big ethical question when I got access to it, over whether or not I should be telling the people who I was using the milk from, what I was doing with it because if I did find traces of this virus in it, that might have an implication for them. I, on the other hand argued that actually, if it were my breastmilk, I probably wouldn’t want to know because there's nothing I could do, having discovered this association potentially. At the moment, there's no kind of treatment for it. So therefore, is it better to remain ignorant of the fact?
Anna - Well, I think really what you always should be doing is only sharing what the research participant has consented to be given, so you shouldn’t be altering consent forms and breaching those protocols. But what we’re looking at is moving forward for new research studies that are constructed now to actually think about the research participant at the end of the process and ask them right at the beginning, “How connected do you want to be to the research that we’re doing? Would you like to have individualised results? Would you not? Would you like to know certain things? Would you not?" But just to be more connected to it.
Chris - 98 per cent is a very high number, isn’t it? Were you surprised?
Anna - Very surprised, yeah. I was expecting far more people to say, “No, not interested in this.” It just shows that people had a perceived value of the importance of genomic data and whether that is real or not, is something else. But they thought there was something useful they could do with it.