A Spotlight On: The social and ethical implications of reproductive genetic technologies – Felicity Boardman

Please note the transcript has been edited for brevity and clarity.

FLG: Hello and welcome to the latest “A Spotlight On” interview. Today I am joined by Felicity Boardman, Professor of Social Science in Genomics at Warwick Medical School. She is going to talk us through her research into the social and ethical implications of reproductive genetic technologies. So, without further ado, Felicity, could you introduce yourself and give us an overview of your work?

Felicity Boardman: Hi, my name is Felicity Boardman. I am a Professor of Social Science and Genomics, and a person with a genetic condition myself. I have generalized dystonia, I am a wheelchair user and I have children myself. That is partly where my interest in reproductive genomic medicine stemmed from, as I had to face some of the decisions around the use of genetic technologies in reproduction myself.  I’ve come across some of the debates and social and ethical concerns about how these [genomics] technologies should be used. My research has really tried to highlight the perspectives of people who have this lived experience – trying to understand that lived experience and how it can be useful in helping us untangle some of the social and ethical difficulties around the use of these technologies.

FLG: That’s amazing, thank you. I think in science, it is often quite easy to overlook the patient’s perspective. You have quite a unique position in having that lived experience, but then also being in the position to research that as well.

Felicity Boardman: Yes, absolutely and it really helps having that insight. It has really shaped the types of questions that I have asked people and it gives you that sense of empathy with some of the perspectives of families affected by genetic diseases. These perspectives were very varied – there were all kinds of different experiences and I really tried to keep the types of conditions that I included in my research quite broad, so they affected people in very different ways. Although I was speaking with people who may have a condition that presents very differently from the one I live with, there were some common themes and some of the things they said did resonate with me. It has also given me a chance to reflect on the role of the researcher and how we connect with our own experiences within research as well.

FLG: Before we discuss your research further, could you give our viewers a bit of a background on the current regulations surrounding genetic screening in the UK?

Felicity Boardman: At the moment, all screening programs are looked at by the UK National Screening Committee. This is an advisory group that makes recommendations to the government on which screening programs ought to be introduced. They do this through a process of evidence review, with a set number of criteria that the conditions are measured against. It is very much a condition-by-condition approach to screening.

I think in some ways, genomics is challenging that way of looking at screening programs. This idea of being able to get a lot out of data all at once through one test is very different than the way in which the current approach to assessing screening programs has been set up. It has been set up on a case-by-case basis and there are very strict criteria that a condition has to meet before it can be approved or recommended as a screening program. Importantly, within those criteria is the need for treatment. This is something that is also changing with genomics, we are seeing the introduction of gene therapies. So, in many ways, I feel like recent advancements in genomics are challenging the way that we approach screening, as well as treatment.

FLG: It is a massive dilemma determining when screening and intervention are appropriate – and at the moment it really is a case-by-case decision.

Felicity Boardman: Absolutely. In many ways, you have to think very carefully about the information that will come out of screening. Screening is notoriously difficult from the point of view that, when you are making a diagnosis of a condition, you are looking to help someone resolve an issue that they have, because usually they are symptomatic in some way. With screening, you are plucking someone out of the population and potentially telling them about a problem they did not even know they had. So, we must think carefully about the ethics of screening and the potential harm that can occur when you do that in a different way to the way to diagnosis.

FLG: What are the ethical concerns of genetic screening? Can you give some examples?

Felicity Boardman: Well, the ethical concerns are very different depending on the type of screening. In the context of reproductive genetic screening, ethical concerns can vary depending on when the screening is done. If it is done pre-conception, before a couple of has conceived the child, there are concerns about which conditions should be included the screening program. Moreover, when you are screening a couple before conception, it has the potential to influence the way in which people approach relationships. There is this potential for people to want to check out each other’s genetic profile before deciding whether or not they would want to have children with that person. In some of the interviews that I have done, where couples have had children affected by genetic conditions, that sort of question about, “Are we compatible?” came up. So, I do not think it is a leap to say that in the future, if we all know about the conditions that we are carriers for, could that start to affect who we enter into long term relationships with and who we end up having children with? This is something that we need to consider because there are there are arguments that genomics, particularly in this context, can be used in a eugenic way.

There is that history there, that I think needs to be considered when thinking about the use of pre-conception genetic screening and prenatal genetic screening. So, screening in pregnancy has a very unique set of ethical and social issues around it, because it’s associated with pregnancy termination. It’s about identifying a potential condition in that foetus and then making a decision about whether or not to discontinue or continue that pregnancy. It is also challenging, because at that moment when screening is being performed, there is no phenotypic information. It is based solely on the genotype and there might not necessarily be a good correlation between the two. It is hard to predict, particularly for conditions where there is a high degree of variability, what that child’s life is actually going to be like based on their genotype. I think from the research that I have done; I could really see the ways in which different social factors were important especially when considering how some of these families live their lives as well as the clinical factors.

I think some of the ethics around prenatal genetic screening focus on ensuring that there is balanced information about life with the condition identified, but also making sure that screening does not become too routinized to the point that it jeopardizes consent. There is no argument that pregnant women often go through scans and screening because it’s something that you just do in pregnancy. It’s kind of the expectation that you will go to your 20-week scan and have a nice opportunity to see the baby, but not necessarily thinking about that as a foetal anomaly scan. There are also ethical concerns around making sure that people really understand what could come back from some of these tests.

Finally, there is newborn screening, with the newborn genomes program. Which is something that’s very much at the forefront of many people’s minds – how genetic screening could work for newborns. Again, the question about what you look for is important. There is a question about whether parents will want to know about late-onset conditions or conditions for which there are not treatments – and even defining what we mean by “treatment,” is it surveillance or intervention? Is that enough grounds to want to tell a family about a potential future condition? How much uncertainty might there be? Even with examples like cystic fibrosis newborn screening, there can be uncertain results from newborn screening. For cystic fibrosis, we have these designations – positive, inconclusive diagnosis, or CF speed – which means the children usually remain healthy, but could develop cystic fibrosis at some point in the future.

Another concern around genomic screening at birth, is that as it becomes more routine, there could be more and more of these uncertain results coming up and we need to consider the potential harm that could cause families. So, that is something that needs to be thought about, what the reality of living with a designation like that from newborn screening could look like. This is the same for conditions that are early onset but not immediate – there is a concern that parents can lose that “golden time” with their child, where they do not realize there is anything wrong with their child. In the interviews that I did with families who had children with fragile X syndrome, some of them were saying they wish they had known earlier. They felt like they were not being believed when they were telling doctors that something was going on with their child and that they kept being sent away. Others were saying how they got those few years of “golden time” before realizing that something was happening and if they had had newborn screening and realized early that time would have been taken away.

There is an argument about protecting that latent period before the condition, as screening can be seen as almost extending the illness. With the condition being identifying earlier, that baby suddenly becomes a child with a condition. So, we need to consider those kinds of factors. Another concern with newborn screening is, if it is done through genomic sequencing, there is the issue of what is done with the data afterwards. Whether that data is stored, whether it is linked, whether it is dipped into over time – all of this comes with ethical concerns about consent, about who has access, when recontacting is okay or not. Ringing someone up as knowledge of variance changes over time. Is it okay to for someone to get a phone call out of the blue to say “Oh, by the way, we now understand what one of your variants means and this is what it’s going to mean for your life”? Is it possible for people to give advanced consent for that and how often would you have to take consent from someone for that [recontacting] to be a valid thing to do? That is kind of just skimming the surface of some of the ethical and social concerns about genetic screening – there is a lot to think about.

FLG: It is a minefield really. It is difficult when you are dealing with so many different people’s opinions as well, because even one specific patient or family of a patient, their opinion can change. Could you tell us a bit about how you are how you are exploring attitudes towards pre-conception carrier screening and the Imagining Futures Project?

Felicity Boardman: I did a series of surveys and interviews – quantitative surveys and in-depth interviews. The families involved were living with one or five genetic conditions: thalassemia, hemophilia, fragile X syndrome, spinal muscular atrophy or cystic fibrosis. As I mentioned earlier, they are very different conditions and they present very differently. I picked these genetic conditions because I wanted to look at a range of different experiences –  but even within each condition, there is a high degree of variability.

What I found from my research was that families were broadly very supportive of introducing pre-conception genetic screening. There was a lot more concern about a prenatal genetic screening program being introduced, but newborn screening and pre-conception screening were much less controversial. What I found interesting was how people’s attitudes towards genetic screening were linked to their lived experiences. Those who had much more negative experiences dealing with these conditions were the people who were much more likely to be supportive of genetic screening in all its forms. Those who had more positive experiences were more likely to be skeptical about the value of genetic screening programs.

Interestingly, I also found that having a negative experience with your condition had very little to do with the severity of the condition. There are a range of factors that make living with a genetic condition either a negative or positive experience, not just clinical severity. I think that is something really important to think about when considering which conditions we should be screening for –  I don’t think you can “read out” what someone’s lived experience is going to be based on the projected clinical severity of that condition.

Those who had early onset and clinically speaking, more severe conditions, were much more likely to be positive about their lives and to be ambivalent about genetic screening than those who had milder presentations of the condition that were later onset. I think it has a lot to do with the fact that when you have a late-onset condition you’ve lived your life a certain way. Then there’s this period where you have to sort of renegotiate your identity, your role, your lifestyle – people reporting things like losing their jobs or their marriages breaking down, because they’re having to adjust to big changes in their abilities. That process of deterioration was almost viewed more negatively than the resulting level of disability. So, I think this kind of uncoupling between severity and the patient’s lived experience is a key thing that has come out of my research and how that contributes to some of the debates around which conditions should or should not be screened for.

FLG: Do you think in the future these attitudes may change? Perhaps if there is a better understanding of these conditions or better ways of teaching patients how to live with them?

Felicity Boardman: We are going to see people become much more familiar and comfortable with the idea of genomics. It is increasingly being integrated within the NHS, not just in terms of screening, but in terms of diagnostics and treatments as well. However, we are seeing a rise in people wanting to talk about the realities of their conditions and to challenge screening programs if they feel that they do not value or don’t recognize their lived experience. We have seen that recently in relation to Down Syndrome as expressed by Heidi Crowter. Heidi Crowter is a person with Down syndrome and she spoke out about the existence of screening programs and how they were devaluing her life and the lives of other people with Down syndrome.

But you are also going to see people who very much advocate for genetic screening and celebrate the increased accessibility of genomic medicine to more and more people through genetic screening. It is opening it up at population level – even people who do not have a history of genetic conditions, could have access to these technologies. There is also a huge potential there as well because I think that many of the families are supportive of the idea of choice. However, they are concerned that any choice that comes with technology needs to be an informed choice, and this is why they would focus on balanced information, while at the same time supporting genomic technologies.

FLG: In the future, when these kinds of genomic technologies do become more common, people will have a better understanding of the implications involved and therefore be able to make more of an informed choice.

Felicity Boardman: It is really important that we have access to that lived experience. That is one of the things I have tried to do through the Imagining Futures research program –  to bring some of that lived experience into the debate. We are not just talking about whether the general population wants to be screened, but also we’re looking at what these conditions mean for the people who live with them. Alongside the Imagining Futures research program, I also collaborated with a company called STAMP, and we developed an art installation that was built directly out of the research findings. There was a double helix centerpiece, surrounding it was a word soundscape and videos played as well. It took the words directly from people involved in my research and projected them into this space. You could go in and you would see this denaturing double helix and also hear the stories of people living the different types of genetic conditions and their experiences. We toured this exhibition in different venues over a couple of years and got some really interesting feedback. Many people spoke about how they had never heard of some of these conditions, never met anyone with them. They found it really enlightening to have those stories brought to them in a creative way. So, we need more of these types of projects, which make the lived experience of people living with genetic conditions accessible to the general population.

FLG: That’s an amazing way to show the work you have been doing and really spread awareness about these kinds of conditions. Do you also think it is really important to have both quantitative and qualitative data in these kinds of research projects?

Felicity Boardman: Absolutely. I think that, if I just stuck with one data type, I would not have this kind of three-dimensional view of what is going on. For example, if I just taken the survey data, which kind of forces people to make black and white judgments about a topic such as genetic screening on its own, I think you would get a view that the vast majority of families and patients are supportive of genetic screening. However, what you get from the interviews, and this is the nature of qualitative research, you give people the opportunity to kind of to and fro, not force them to give a clear-cut answer. The interviews really get to the heart of some of that ambivalence and you get to see that nuance. Whilst these families may say they broadly support these genetic technologies, some people expressed that in some ways, they were glad that these technologies were not available when they had their own families, because their families would not be what they are today. I do not think I could have those insights just through surveys alone, so the combination of the two data types was very useful and important.

FLG: It is definitely very interesting and valuable to hear people’s lived experiences and then see how that impacts their decisions or their viewpoints on genomics.

Felicity Boardman: I think their lived experience is so intimately connected in the way in which people live with their condition, on therapies and on genetic screening. Genetic screening touches on issues around what it means to have a worthwhile life and who are we permitting to come into society. Those are questions that fundamentally need the input of people who live with these conditions that could be genetically screened for and I do not think those decisions can be approached without that the insights that they have to bring.

FLG: For those who do want to access genetic screening in any kind of form, are there any major barriers to accessibility?

Felicity Boardman: I think at the moment, it is a matter of which conditions people are able to access genetic screening for. Now, in the UK, aside from the newborn Genomes Project and the newborn bloodspot, which are already in place and screen for a set number of genetic conditions in newborns, there are other ways to access genetic screening and people sometimes go down the route of private genetic testing companies. One of the concerns around these private genetic testing companies is the interpretation of the testing that is done. We are seeing more tests being made available by that route.

For genetic screening through the NHS, the condition in question would need to be looked at by the UK National Screening Committee. We are at a point where we need to think about what challenges are involved in genomics and how it impacts the way that these conditions are looked at, as well as what we can learn. We also need to consider how the process may adapt as genomics becomes implemented and the potential of genomics within the structure that we currently have. In some ways, genomic data is very different to other types of data that you can get from screening. The results are not transitory – it is a permanent piece of information that has relevance across a person’s life course. It is very different to, for example, getting a blood test and genetics is also very, very personalized. People have that sense of identity within it. Those are some of the ways in which genomics can be considered a special kind of data. It may be that the way in which we think about genetic screening and how we assess conditions for genetic screening may change over time.

FLG: As we get more and more patient information, particularly genetic information, there’s a big concern about how that data is going to be protected. We also need to consider the longevity of that data, because although you might want someone to have access to it one day, in the future, you might want that data and privacy back.

Felicity Boardman: Absolutely, one of the concerns with the newborn genomes program is about what is done with that data afterwards. It might be that a newborn who is screened may grow up into an adult who does not want to have any further information about their health that could be contained within their genome. I think people will approach it in very different ways. There will be some who just will not want to have predictive information that could potentially come out of the genome because some of it could be very challenging to live with.

FLG: One could also suppose that a child’s perspective may be completely different to their parents’ perspectives as well. So, if they consent to their child’s newborn genome sequencing, there is quite a high chance I suppose that the child may not want to know that information in the future.

Felicity Boardman: One thing we should consider with newborn screening is who should be the custodian or the guardian of that information. Is it for the parents to have and then drip feed to their child as they are growing up? Or is it that the child’s information, that is held for them and when they are of an age where they can give informed consent themselves, they are then able to access that information? Because there are certain things that could come out of the genome, such as carrier status or propensity to late-onset conditions that will not be of immediate relevance to the newborn or that will not have treatments or interventions that can make any difference? So, there is that debate of when should you wait to reveal that information. Do you wait until that child is able to decide about whether they want it or not in the first place? Or is this something that parents will want from the get-go, to have some control over. So we need to think about who owns that genetic information, especially when we consider the familial nature of this information and the impact it has in various ways, particularly on biological kin. It is something that must be thought about because of the various responsibilities and issues about disclosure that can come with genomic information.

FLG: I suppose even the age at which someone might want to know that information – the lines could become blurred. You do not know if an 18-year-old is able or capable of making that decision, and I am sure there are some adults that would not even feel capable of making that kind of decision.

Felicity Boardman: It is hard to imagine how you are going to react to that information until it happens. It is hard for people to anticipate what it could do to them living with the knowledge of a potential future condition. As well as that, knowing about carrier status could potentially change the way in which people approach relationships if that information is given to young people. So, there is that side of it as well. I think that over time, we might start to get a better understanding of what support people need to make decisions about wanting or not wanting this type of information. Especially because once you’ve got it, you can’t stuff it back into the box. Once you know it, you know it and then you have to live with it. I think that can be quite hard to get across to people in the context of trying to get informed consent.

FLG: So just to wrap things up, you will be joining us at the Festival of Genomics and Biodata in January, which I am very excited about. Could you just give us a few words to tell us why you are excited to join us?

Felicity Boardman: Well, the size of the Festival and the potential for networking, meeting people who are working in genomics, but coming at it from very different disciplinary backgrounds, is exciting. I am a social scientist; I work on social and ethical issues. So being able to meet a wide range of people working in this area, but in very different ways, is what I’m most looking forward to.

FLG: Thank you so much for all your information today. I look forward to seeing what the future of genetic screening holds because it is definitely an interesting topic. Thank you so much for joining us today.

Felicity Boardman: Thank you.