Jonathan Roberts is a Registered Genetic Counsellor at Addenbrooke’s Hospital in Cambridge and a Researcher at the Society and Ethics Research Group at the Wellcome Genome Campus. Roberts’ research focusses on how developments in genomics are impacting society. He is particularly interested in the depiction of genomics in popular culture and how this relates to identity. Roberts is also a strong advocate for patient empowerment and evidence-based genetic counselling.
Please note the transcript has been edited for brevity and clarity.
FLG: Hello, everyone, and hi, John. Thank you so much for joining me today as we shine a spotlight on the social and ethical issues surrounding genomics. Today, we’re going to be looking at public engagement and science communication and the importance of that within genomics. But before we start, Jon, if you could introduce yourself and give us a little bit about your background as well.
Jon: I am a registered Genetic Counsellor working in the NHS at Addenbrooke’s Hospital. I am also a researcher at the Society and Ethics Research Group at the Wellcome Genome Campus, where we look into some of the social and ethical aspects of genomics. One of the things I’m interested in, from a research point of view, is why do people engage with genomics. And I have a particular interest in the value of genetics and genomics in broader culture, in particular, popular culture.
FLG: What made you want to pursue a career as a genetic counsellor?
Jon: I came across it in my undergraduate degree when I was studying at UCL and I thought it looked like a fascinating career and I thought, well, I’ll pursue this until I find something that I want to pursue more. And I sort of never did. I looked into what was needed to apply and it still is the case – you need a range of skills, including a background in social work or care work. So, I went away to get the relevant training that I needed to pursue to get into the master’s course and thought I’ll just keep doing this, as I said, until something else comes up.
FLG: Why are genetic counsellors so important in this genomics revolution?
Jon: I think one of the things that genetic counsellors do is they have these sort of twin skills of scientific knowledge and communication and counselling skills, and that’s reflected in the background that you need to get into the course. So, in order to become a genetic counsellor and get onto the master’s course, you need a background in both of those and then those are then reflected in the training you get and also the continual training you have as genetic counsellor. I think in order to maximise the benefits of genomic medicine, you’re going to need both of those two things. You are going to need a hard handle on the science of it, in terms things like complex variant interpretation and understanding the benefits of things like polygenic risk scores and how to apply those and all those sorts of things. But you also need a solid grasp of the human aspect, the fact that there’s always a patient at the end of this. Maximising the benefit often comes down to those interactions that you’re having with patients.
As an example, one of the key things in maximising the knowledge is being able to share that information widely within families. I think everybody knows families are complicated things! Let’s say that someone has a diagnostic test, and it finds a cancer predisposition gene and that then needs to be shared widely with the family to maximise the benefits. Genetic counsellors with their skill set are in a prime position to be able to do that. That’s nothing new in a sense, that is what genetic counsellors have been doing for many years now. But I think people are now going to be getting a genetic diagnosis when there’s no context for them. Because genetic testing is happening and genomics is becoming mainstream, a lot of the time people are going to be getting these tests and they’re going to have no familial context, no emotional context – it is going to be coming right out of the blue. And one of the things that I think is important to be able to do before you start sharing information with families is to process what exactly that means for you as well. So, I think you know genetic counsellors are in a really strong position to help people who are having genomic testing in the NHS, especially when they may be trying to make sense of a genetic diagnosis for the very first time.
FLG: How do you think the role of genetic counsellors will evolve over the next decade?
Jon: It’s a great question – I don’t know but I could take you guess. I think one of the interesting things about the profession is we don’t quite know. One of the key things I think going forward is going to be figuring out who needs genetic counselling. I think one of the things to consider is that, as genetic testing becomes more integrated, not everyone who has genetic testing will need genetic counselling. So, I think it’s worth separating genetic testing and genetic counselling because they are two different things. Obviously, a lot of people who have genetic counselling will have genetic testing, but not everyone who has genetic testing will need to have genetic counselling. For example, if someone is having genetic testing to determine suitability of certain chemotherapy options, there’s not necessarily a need for a genetic counsellor at that point. So, I think one challenge going forward is, as genomic testing enters mainstream healthcare, we need to figure out who needs genetic counselling and who’s going to benefit from that approach.
I think another role of genetic counsellors going forward is going to be working more within other specialties. At the minute, clinical genetics tends to be its own speciality and, obviously, there are integrated clinics to a point, but I think it’s something we are going to see a lot more of. We will see a lot more of genetic counsellors working within different sections – in oncology, cardiology, ophthalmology – both in terms of talking to patients in those settings but also supporting other clinicians, perhaps with complex results, variants of uncertain significance, variant interpretation and those sorts of things. I think there’s going to be a lot more multidisciplinary teamworking going forward and genetic counsellors moving away from clinical genetics and working within other specialties and supporting them as they implement genetic testing.
FLG: Communication is critical to your role as a genetic counsellor – what are some of the challenges you have faced or noticed when communicating with patients?
Jon: There’s a range of challenges that you might face. Within families, it is thinking about sharing information, and it’s pretty rare that people will ever refuse to share information, although it does happen. There’s the court case, that ABC versus St George’s court case, which is the famous example recently, where a family member refused to share their genetic information and the family member sued the NHS, arguing that the clinicians had a duty to disclose that. Those situations are reasonably rare, but you do often encounter complex family dynamics where people think it’s going to be hard to share information, or they don’t quite know how to start that conversation with other family members. I think another challenge is just thinking about the emotional impact of a diagnosis and allowing people the space and time to process that. That links to a point of, perhaps, when people may be coming to a genetic counselling clinic with their own beliefs, that may perhaps conflict with the explanations we are giving.
For example, people might be having genetic testing and they might think that they are not at an increased risk because the genetic condition is on their mum’s side and they take after their father’s side. So, you get these situations in clinics where you have lots of different beliefs – both in terms of broader cultural beliefs to more personal/familial beliefs that people have and are important to them and may conflict perhaps with a scientific explanation. One of the ways that you can help people in those situations is to deal with the emotional aspect of it because we know that if you allow people to express and articulate their emotions that a) we will just listen better because people are more likely to listen to you if you listen to them but also, b) people process factual information better if their emotions have been listened to and acknowledged.
FLG: The public is so diverse. For example, I have a genetics background so I would understand what you are saying, whereas others may not have heard of genetics or the word gene. How do you have to adapt your communication skills to deal with this?
Jon: That’s a really interesting question. I think that there’s a number of ways you can do that. I think one of the things is to appreciate that there’s only so much information you need. Essentially, what is the bottom line, what’s the absolute minimum information you need to make the decision. Genetic counselling back in late 90s, a genetic influential called Seymour Kessler identified these two models of genetic counselling that seemed to be in practise. These models were descriptive, rather than models that were specifically taught. He identified the counselling model and the teaching model. The counselling model deals with feelings and emotions and puts the counsellor-patient relationship at the heart of clinical practice. Whereas the teaching model focuses more with this didactic model, where you’re trying to impart as much information as you can to the patient to allow them to make their own decision. There’s a temptation sometimes when you’re operating from a teaching model to think that in order to make decisions, people need to have as much information as possible, and you kind of go into the teaching mode. But actually, if you listen to patients and really take the time to see where they’re coming from, often that gives you a much better idea of what’s the bottom line, what’s the minimum they need in this situation to make a decision that feels right for them. And you can just scale back the amount of information that you are giving. So, that’s one way of doing it – it is basically just reducing the amount of information you give and only giving the amount that’s really needed for the situation.
I think another thing you can do is to allow people’s knowledges and experiences to come into a clinical consultation. I think this goes as a point for genetic counselling but also as a point for science communication in general. You need to allow the communication to be two directional, and that’s really important. We often think of science communication as one directional – I have got the scientific information and I need to give it to you. And we’ll judge success by how successfully you managed to take on board all of this information. But actually, I think real engagement and clinical consultations are most successful when there’s learning happening on both sides of that. And I think when learning happens on both sides, when both sides have commitment to learn about the other, you actually get a sense of understanding, sort of meaning making. So, you know thinking about in consultations, instead of thinking about how can I get this person to understand it correctly, I’m thinking how is this person making sense of the information I am giving them and what does it mean to them.
For example, let’s take the example of somebody saying, ‘Oh, I’m not worried about this gene change because I take after my father’s side and it’s on my mother’s side’. There is a temptation in a clinical consultation to think, well, they need to know that this is Mendelian inheritance, and it does not matter which side you take after – the odds are still 50/50. But actually, what you can hear there is the emotion – what is it going to mean for them if they have inherited it, what is the emotional impact going to be, what is the relationship like with members of the family who they do or they don’t take after, what is the emotional context. Once you start to make sense of that, you start to make sense of what the results going to mean in that context. You understand how they’re making sense of the situation that they’re in. I think that is one way forward, to approach it not through I’ve got this information and I need to give it to you, but we need to make sense of this together and really see that dialogue as going both ways, rather than one way.
FLG: You also work part time with the Society and Ethics Research Group at the Wellcome Genome Campus – can you tell us a little more about what this research group does?
Jon: We are a small group of social scientists – some of us are genetic counsellors who also work as academic researchers and others are just social science researchers. We work at the Genome Campus, which as the name suggests, focuses on genomics and biodata. We look at the social and ethical implications of genomics. We have a diverse range of projects that look at different ethical issues that arise out of genomics.
FLG: One of your prominent studies – Your DNA, Your Say – looks at public attitudes towards genomic data sharing through films. What was the value of using film to communicate with the public? What were the challenges?
Jon: We’ve used films in a range of different survey research to just engage people. One of the things that we are committed to is going back to the point of trying to listen to people. So, when we’re thinking about the implications of genomics, we want to try and understand people’s point of view and what people think. I think, as you alluded to earlier, many people in a formal setting at least haven’t heard of something like genomics. It can be quite challenging because you know if you put up a survey about genomics, often all you’ll get is people responding who already have a high level of engagement or knowledge about genomics.
So, one of the challenges is then to try and put something out there that’s engaging and has a wider reach. And one of the ways that we’ve approached this is to create videos that are both informative but also engaging and present the subject matter in ways that you know is quite accessible. So that anybody who is watching those, whether they have no background in genomics or they haven’t heard about it or don’t care, can pick up those videos and watch it. The aim has always been that the videos can stand on their own right – they are interesting, engaging videos that just happened to be part of a survey. This is reflected in the fact that they have won some awards at film festivals. That’s reflective of the approach that they should be interesting in their own right and engaging in their own right, and then you just happen to tag a survey on the end of them and then you can start to get people’s views. In terms of the challenges, the one thing is that it is time consuming. There is an investment in terms of resources, they are time consuming to make and put together – worth it – but you know there’s a resource element. I guess as well, those videos will also be framing how then people are approaching the subject matter, so you can think about that as a methodology. But the primary goal has always been to use them to increase the accessibility of the research and get a wider perspective on these important issues.
FLG: The surveys have been translated into several different languages – what is the importance of ensuring genomic research and education is as accessible as possible? Why was this something that was important to the group?
Jon: There’s a couple of reasons why it’s really important. I think there’s both the practical and an ethical aspect to it. The aim of the research is to allow for the public’s voices to be heard as much as possible, particularly in terms of thinking about policy. So, the Your DNA, Your Say study was looking at data sharing in genomics and obviously this is something that’s going to be affecting lots of people who are increasingly using genomic testing in a research, clinical or direct-to-consumer setting. So, it is really important that if you are going to be arguing that these are representative opinions of people, and therefore should be influential in policy and engagement, then you should actually make sure that it is accessible to lots of different people. Otherwise, it is just a small group of people having their say. So, there’s an ethical imperative there in terms of widely impacting participation. There is also an issue in genomics where we know that many of the datasets that we are using have an ethnic bias, which then gets translated into the results of genetic testing having a higher predictive value for people with different ethnicities, which is an issue.
For example, if you’re using something like polygenic risk score to predict cancer screening programmes, it’s a challenge if those polygenic scores have been developed using genomic datasets that have limited pool size in terms of the ethnicities it involves. So, I think there is also an issue in terms of the wider engagement in genomics. I think a challenge going forward for genomics is building trust in particular and making sure that the benefits of genomics are for everybody and not just for a small group of people depending on your background. So, it feeds into that wider point as well in terms of making sure that we maximise the benefits of genomics for everybody in terms of trying to understand what people think and feel about DNA and particularly, in terms of the survey, what they think about data sharing and how they want their genomic data used. It is really important that that is translated and that we get a wide range of views from many different people from many different countries and cultures.
FLG: A lot of public ideas about science and genetics comes from popular culture. What role do you think popular culture has in shaping public understanding of genetics?
Jon: I mean it’s one of the things I’m really interested in so I could talk for ages on it, but I’ll try and keep it concise. I think one of the ways that popular culture has shaped our opinions is that it gives people a way of expressing their feelings about science. I think this is particularly true for genetics and genomics, but I think this is true in general. I think there’s often anxiety amongst some people when they’re approaching popular culture in science, in that it is sensationalist and leads to unrealistic or false fears about science. And I’m not saying that science in film is always necessarily true, but I think one thing that, actually, we can think about popular culture is that it is not necessarily causing public fears, but it is perhaps reflecting them. So, these anxieties are there anyway, especially about new sciences. We often see science being portrayed in film as something to be scared of when it’s new or experimental science, like AI or genomics or something that’s new or perhaps unregulated and pushing the boundaries. It often then finds its way into popular culture, in particular into these narratives where it’s presented as something that’s quite scary. I think that it’s a reflection of feelings about science that are not going to go away if we just pretend that they are not there. These are real feelings that people have.
So, I think one of the values of popular culture is that it allows us to engage with people, engage with how their feeling about science and to take those feelings and emotions seriously and to not dismiss them. It is quite hard, I think, to engage with science, perhaps, where there’s an asymmetry of knowledge – when you have got scientists who know so much and others who don’t know quite so much. And then one of the values of popular culture is that it can kind of even it out and it can facilitate conversation, where you can have a talk about science in a way where everyone’s got a reference point, and everyone has got something they feel they can contribute. I think, in particular, popular culture can facilitate us talking about our feelings and emotions about science, which is one of the ways that we reason and think about them, and you have to take those seriously, even if you feel that those might be unwarranted. You don’t get rid of someone’s fears about something. It’s very hard to rationalise somebody out of a fear – you have to deal with the emotion itself. And I think that’s one of the ways popular culture can really help us in broader science communication.
FLG: How do you think popular culture can be harnessed to improve science communication?
Jon: I think it is a really challenging question – I don’t necessarily have a complete answer because it’s something I’m still working on. I’ve got some ideas, but then they are just ideas. One of the things that we feel strongly about, I think all of us who work at the Society and Ethics group, is that we need a strong evidence base for anything that we’re doing, particularly in science engagement. So, it’s something that we are looking into and thinking about different ways of researching. But one of the values of popular culture, and again this is going to sound like a broken record, but I think it is the genetic counselling training coming out, I think it helps you listen to different people with different perspectives. I think real, meaningful engagement is quite time-consuming and takes quite a lot of commitment to really establish those relationships and establish the trust. And I think one of the ways to establish relationships and trust with people is that you take seriously what they’ve got to say, even if you disagree with it. Even if you think, ‘Oh, this person doesn’t understand the science, or they’ve overblown this fear or that fear. It’s just from the films, it’s not really true.’ You have to take seriously what people are saying, take what they’re feeling about science seriously – if they are scared about it, engage with that. I think one of the ways that popular culture can be used is that it has potential to help people create environments where they feel they can express themselves. They can talk about what they think and what they feel and that they’re not going to be judged for that and that they’re going to be listened to. I think if you do that, then you start to create space for really meaningful engagement, and I think once you have properly listened to people, you are in a better position to explain your point of view and reasonably expect that to be listened to.
Let’s say that you are perhaps trying to allay someone’s fears about the use of genomics – you are in a position as a scientist trying to persuade people about the need and safety of genetically modified foods, for example. I think for some, there’s an instinctual anxiety about GM foods. And I think if you are in that position, and you want to talk to people and say look, actually, these foods are not only safe, but there’s environmental reasons, or whatever we actually need these technologies for. I think if you want people to engage and build trust and accept what you’re trying to say, then you need to have listened to them and accepted what they have to say too. And I think popular culture has a potential value there in allowing people to talk and express their emotions. I would argue that we try and switch it around, from being not how does popular culture help us communicate, but how does it help us listen, would be my underlying point.
FLG: I think we have seen, with the pandemic and vaccine roll out, that trust is important, but also how we communicate information is also critical. How can ineffective communication cause a further divide?
Jon: I think that’s a really important point. I think the whole coronavirus pandemic has highlighted that effective science communication is a key strategy in terms of maximising the benefits of our scientific knowledge. Because we can do all the studies to prove that social distancing, mask wearing and lockdowns are effective and necessary, but if you get that messaging wrong and people don’t believe it, the scientific knowledge is not actually operational – it’s not benefiting anybody. I think in terms of how to maintain trust, I think we’ve seen in the pandemic some examples particularly how not to do that. One of the challenges with trust is that once it’s gone, it’s very hard to build back up. And I think one of the ways that we do that in genomics, one of the things that’s really important, is setting expectations and being realistic and honest about expectations. Because that’s a really important thing when we’re talking about the value of genetic tests and being reasonable about what the test can and can’t tell you and just managing those expectations. And this is something that’s really important in terms of maintaining that trust, and in maintaining that credibility and honesty.
I think sometimes we may have seen in the coronavirus pandemic where people have wanted to, perhaps, overplay the benefits of certain technologies or, perhaps, underplay the risks. Then when the truth comes out, then that trust is undermined. Whereas, perhaps, if those realistic expectations were set up in the beginning, so let’s say if it was set up in the beginning with the vaccines that there would be an unintended risk as with any medical technology, perhaps then when it comes out that there are some small risks associated with the vaccines, there then is that expectation that has been raised and people are aware of it. I think that facilitates trust. I think it’s harder to do that on a global scale. I think when you are in a one-to-one relationship in a genetic counselling consultation, it is a very different situation than trying to do public engagement on a global scale around something so difficult as vaccines. But yeah, I think the idea of setting expectations is really important.
FLG: Social media plays a big part within communication. How can we ensure that we reach different populations and those communities who don’t necessarily typically engage with genetics and genomics to ensure that everyone is a part of the conversation?
Jon: That’s such a good question and again I’m not going to have a complete answer because it’s such an important point, and I think you know being able to reach diverse populations and engage them and start building trust is a really important aspect of engagement in genomics, and also a really challenging thing. I think one of the things I would say to that is that building trust and building those relationships is very challenging to do with one-off events. I think it requires a deep commitment and long-term engagement. If I can relate it back to genetic counselling, there’s this idea that comes out from genetic counselling, born of its roots in the psychotherapeutic thinking of Carl Rogers, who was a psychotherapist and was very influential in early genetic counselling and still is. And Carl Rogers had this idea of putting what he called the therapeutic alliance at the centre of genetic counselling. The idea is that the counsellor and the patient or client have this alliance and have this relationship, and it is about building rapport and building trust.
And from a counsellor point of view, it is about having this unconditional positive regard and empathy, and through that you build trust. While that is perhaps a resource heavy way of approaching it, if you are able to do that, you are in a position where you can affect the most amount of positive change. I think the same probably holds true for public engagement. There needs to be empathy. There needs to be an unconditional positive regard where you’re not going to dismiss people’s feelings or beliefs, even if you think they are unscientific. You need to have an understanding of where they’re coming from and if you are able to build those trusting relationships you are then in a much stronger position to actually start to affect change in a way that you would want. You can start to build that trust back up where trust maybe has been lost or hasn’t existed within genetics or genomics or science as a whole. And start to then be in a much better position to build those relationships.
FLG: How does your work as a genetic counsellor and at the Wellcome Genome Campus complement each other?
Jon: I mean, I hope that there’s a symbiosis between genetic counselling and the research work. I think the research work has kind of broadened my perspectives of what you can let into a clinical consultation in terms of trying to understand where a patient is coming from. Before I did my research work, I was a clinical genetic counsellor and then I went away and did my PhD and then I’ve come back, and I do a bit of both now. And I think before I did my research, I had a perhaps narrower conception, especially of what that counselling aspect of genetic counselling would be. And I think that the research has given me the confidence to have a more varied view of what that counselling aspect of the role would be, in particular the experiences and knowledge and the views that I would bring into a clinical consultation to see where a patient is coming from.
FLG: Communication in general is so important and it’s also very important in your role. I think going forward, genetic counsellors are going to be so important as genomics becomes more integrated into society. Thank you so much for talking to me today, it’s been great!
Jon: Thanks for having me!
