Hello and welcome to the xi research podcast. I am your host Diego Silva. Before introducing our guests, I wanted to acknowledge that we're recording on the unceded territory of the Gadigal people of the Eora nation. This is, and will continue to be Aboriginal land. I pay my respect to those who have and continue to care for country. Today I'm joined by Lisa Dive, Bel Holmes and Ainsley Newson to discuss their paper: "Is it just for screening programs to give people all the information they want?" I really enjoyed that title. It's very expressive. You can find this paper in the American Journal of bioethics. I'm very excited to have our three guests today. Very full podcast recording booth here, right here in University of Sydney. Welcome everyone. So just to begin, can you provide a summary of your paper?
Hi, it's Ainsley I'm going to first go with this. And then my co authors can correct everything I get wrong or fill in any necessary gaps. So this paper came about because Lisa and I were working in a research program that was trialing reproductive genetic carrier screening as a population screening offer, with research funding, with a view to potentially doing a program for anyone in the future. And the method that is used to obtain the genetic information that is analysed in this program involves generating a whole exome, at least in two out of the three sites where this was being done. And an exome is the whole Express genome, it basically is a copy of all of the things that kind of are highly utilised in the genome. So there was a lot more information generated in the program than was actually reported back to participants, because the goal of this program was to inform reproductive decision making. So giving people information about their own health, for example, or anything that wasn't going to be relevant to reproductive decision making about very serious conditions was beyond the scope of the program. But obviously, that information is sitting there. And so more than one person started to say, "Well, why aren't you returning all this other information?" And so we wanted to have a look at some of the high level ethical implications of actually well, why why aren't we returning this information? And we felt that not returning this information was, all things considered, appropriate for various reasons, which we go into in our paper. So our argument is, at least at this point in time, sticking to the goals of the stated program, especially when it comes to population or public health screening, using genomic information, which is at its very nascent stage globally, is the right thing to do for the moment.
So I was hoping that actually, you could expand a little bit about what are the main arguments in the paper,
I can jump in here and do this. Hi, It's Lisa. One of the main arguments that we make in this paper is based on a justice or an equity perspective. So in terms of deciding what information to return to people in the context of a screening program, we argue that there are strong justice based reasons for sticking as Ainslie said, to the goals of screening, because if you give people additional information that might be relevant to their, their own future health, or perhaps the health of other family members, it might have health implications for their family members, then that can generate a whole lot of knock on impacts in the healthcare system. One thing is that that can generate a whole lot of additional costs and burdens in the healthcare system more widely. Also, if you provide people with information, which isn't directly relevant to the goals of screening, which is to inform reproductive decision making, then they might take these other findings about say, a pre disposition towards heart problems, or different kinds of cancer syndromes and things like that. And then they can carry that around and not know what to do with that information. And it can be stressful and might also be worrisome for the rest of their family. So if we're looking at a publicly offered reproductive genetic carrier screening program, particularly as we are in Australia, they're very good. What we would say is that there are important justice based reasons for restricting the information provided to the goal of screening, which is to inform reproductive decisions and not give people all this other information that they then don't know what to do with.
I'm going to just build a tiny bit on what Lisa talked about. And then Bel can as well, if she would like to. I think there were a couple of other things. One is, towards the end of the paper, we use a technique that's quite common in bioethics Scholarship, which is to anticipate your critics. And so we go into some counter arguments to our position. And I think that allows us to reinforce this justice based approach around things like the current quality of the interpretation databases that are used in the sense that we, you know, we, these databases are still fairly nascent, they're improving all the time, but mostly they were formed from information taken from people who have the condition, there's less information reflective of healthy populations. They're also not particularly ethnically diverse, but that is changing rapidly. But we also, so we we didn't want to give people erroneous information or not we but we don't want programs to give people erroneous information. There's also quite a lot around challenges to the health system around health literacy. We want to be careful about upholding care that doesn't necessarily just leave individuals to be responsible entirely for their own health, we want to provide this information within the context of a supportive healthcare system that pays attention to structural factors impacting health, as well as just things that individuals can do. And we also know that sequence information generated now is not going to be as good quality as sequence information generated in the future. So while this is a really exciting opportunity to provide information to inform reproductive decision making, it's not necessarily the answer to everyone for their health for now and forever.
So one of the ideas I found really interesting in this paper that you guys avail yourself of is this idea of public health pluralism, I was hoping that you could give us a little bit about what that means, and why you've chosen to adopt that position, and what it means in the context of the argument that you just put forward.
Yeah, sure. So public health pluralism is something that Ainsley and I have written about in another context, where we borrow and expand on an idea from Steve Wilkinson, who introduced this concept of public health pluralism, which is the idea that in a public health screening program, like reproductive genetic carrier screening, we shouldn't have just a singular goal of something like promoting reproductive autonomy, which is often cited as the primary goal of reproductive genetic carrier screening. What Wilkinson argues is that a public health program, particularly one that is publicly funded, needs to commit explicitly to multiple goals. And so in the context of reproductive genetic carrier screening, that looks like holding a commitment to foster reproductive autonomy of participants as the primary goal of the program, but additionally committing explicitly to public health type of goals, which are things like improving the health of populations through a collective and collectively offered intervention.
In another paper where we develop this more we were really careful, though, to make that not sound like the obvious answer is to: A, have this screening in the first place and B, make a decision to end a pregnancy where a child might be born with a condition. I think, a really key thing here is making sure that people who have this, understand that it's a choice. And so the pluralistic aspect is to do with Yeah, as Lisa was explaining goals that can both be held at the same time. So we wanted to be really careful here to show that, because we often think about public health as something that's being done without people even knowing about it. Or it's being done by making a decision about what's best for someone without them having the opportunity to exercise autonomy or liberty. And so for programs like this, we feel that holding more than one value or goal is actually it's appropriate. It's okay in the context of this program. And therefore, you can choose whether or not you want to have this intervention.
Just one more thing to mention on public health pluralism, I think partly why it's really important for, as a way of thinking about the goals of programs like reproductive genetic carrier screening, is because public health tends to be associated with a prevention type of a paradigm where not all but many public health interventions are done collectively on populations, as Ainsley said, sometimes without them knowing, but that's not always the case. But then, public health often has a goal of preventing illness or preventing a health condition. So in the context of genetic carrier screening, that that strong focus on prevention can be associated with that type of eugenic way of thinking about these kinds of programs. So that's, in part the motivation for taking a public health pluralistic approach to reproductive genetic carrier screening. In terms of the paper, and the argument that we're making about the information to give people in the context of a program like this. It comes back to the goals of the program. So as a public health program, the commitment to public goals means that we have to not only seek to promote the reproductive autonomy of participants who accept an offer of reproductive genetic carrier screening, but we also have to think of the collective impact of the intervention across the population. So that means paying attention to things like unintended consequences of offering information that might not be relevant to the goal of the program itself.
So one of the things I find really interesting about an idea like pluralism in, (this is one of the perennial struggles that we have in the work that we do), is when we adopt the pluralist approach is exactly that balancing in between the different interests of people who hold potentially different values. So, without getting into too much detail, or however much detail you want to get into, what does that balancing look like precisely in the context of, of reproductive screening?
Yeah. So in the context of reproductive genetic carrier screening, as we keep on saying the primary goal is to promote the reproductive autonomy of participants who accept the offer of screening. But then we have these secondary, or additional plural goals about things like improving the health of populations, reducing the suffering that arises from when a child is born with a very severe, a condition that is associated with a lot of suffering a genetic condition, and also things like improving the health of mothers and babies and families and things like that. So we have all of these goals in mind. So when we offer reproductive genetic carrier screening widely, it's important that built into the program is, as Ainslie said, the freedom of choice whether to participate or not, and also what to do with a screening result, particularly a screen positive result that there should be support for different decisions that people might want to make following a screening result. But additionally, we need to have boundaries around what the program actually does, in order to safeguard the well being of program participants. So, as Ainsley said earlier, as well, one of the ideas that we were sort of trying to push back on in this paper is that idea of opportunistic provision of information that, well, we're looking at someone's genome anyway, why don't we give them all this extra information? But doing that causes the program to sort of spiral and generate a whole lot of additional knock-on effects that could be burdensome for the healthcare system, burdensome for individuals, and also for families and like wider family members. And so having those boundaries around what information is provided, in the context of a reproductive genetic carrier screening program, is part of what arises from that public health pluralistic approach.
Yeah, just to build on what Lisa's just said, I think it's really a key thing for us here is about health systems sustainability. It's about using this information to make health better for everyone. And we can't do that if we, we set up a system whereby we're providing information, but the ripple effects of providing that information can't be supported too. So it's really about wide Health System Readiness and sustainability, to ensure that people have access to the same level of care and can, yeah, so they can experience equitable care. And so, really, in this context, we're really keeping, we're arguing for keeping the program quite tightly focused on the stated goals of the program, even though the information the program can generate can go beyond that.
So, I'm actually going to turn to Bel now. One of the things in addition to the discussion of public health pluralism, which runs through the paper. The other idea that I think runs through the paper and does a lot of work is this idea of utility. And in the paper, you write about the distinction between clinical utility and personal utility on the one hand, and then within the category of personal utility, you draw this distinction between perceived and non perceived personal utility. So I was hoping you could let our audience know a little bit about what that distinction is, and why it matters in the context of reproductive genetic carrier screening.
Yeah, sure. Thanks, Diego. So clarifying utility of information, in a reproductive genetic carrier screening context, there are several ways of measuring utility, and these are still contested concepts outside of clinical utility. It's not all agreed upon exactly where the distinction lies between clinical, personal, and perhaps perceived utility. So a quick overview: clinical utility is the measure of risks and benefits specific to health outcomes as a result of using a test. So professionals may assess clinical utility by looking at how well it picks up genetic characteristics, or how accurately it identifies a health condition from these characteristics. Personal utility is the measure of risks and benefits which are not specific to health outcomes. And these include less clinically tangible benefits, like increased choice or control over one's health or self knowledge which helps you make decisions. And perceived utility is sort of the idea that some genetic tests are perceived to have utility. But actually, they're unlikely to prove useful for guiding decision making. And they may actually increase confusion, or actually hinder decision clear decision making or autonomous decision making. In terms of how these distinctions are relevant to reproductive genetic carrier screening, we just wanted to highlight that we live in a social context in which certain types of information are valued above others. And using measures of utility can be helpful in reflecting on genetic information and its actual value.
So I actually want to pull away a little bit from the actual paper, and situate the work that you guys are doing within the broader context of data generation in sort of this push in public health and in clinical medicine, to generate greater and greater amounts of data. There's the sort of the rarification of data itself. So I'm wondering what your thoughts are on the idea of: what are the limits of data collection for good medicine and for good public health? And how do we balance the desire to collect data? We know its power, but how do we sort of speak about also some of the limitations of unhindered or unbounded data collection?
Diego, that is just a fantastic question. I'm gonna 100% fail to answer it. Well, I'm gonna have a crack. I think it's a huge tension. And it's a big question in genomics. But it also goes beyond that to, you know, all of health really, and probably other areas too, like, you know, social care, welfare, everything. And the first thing I'm gonna say is just super recently, I've started to listen to some of the podcasts - I'm going to name check a different podcast here, the Center for Personalized Medicine at University of Oxford has a podcast series. And Gabby Samuel, Dr. Gabby Samuel is one of the hosts, she's at King's College, and she's starting to do some really interesting work on the carbon footprint of data. And firstly, I think it's basically impossible to count. But secondly, it is significant. And so I think a really big avenue, following Gabby's work, is to actually really think about the value of this information, not just for banking it all, and drawing upon it as and when we need to, but really stopping first and thinking, why are we banking? What are we banking? What is the intended value? What are the standards that we are using in order to do this? So, I think, you know, a big hallmark of the work I've done and in collaboration with folks like Lisa and Belle is to really think mindfully and prudently about the way we use technology. And to use this in a way that is first asking what the purpose is, now and in the imminent future. Longer term, I think, we have to recognize that what we have now will always be improved upon. And so we don't necessarily need to save and bank everything, because the quality of it just might not stand up to time. So for me, at least, all of this needs to be led by normative questions, you know, critical questions asking: why are we doing this? What are we hoping to gain? What are the drawbacks? What might- What might we do with this? How can we join it all together? Is that infrastructure there yet? What do we need for that to happen? And not just thinking about it only in terms of benefits to individuals, but actually, what are the firstly, I guess, broader public implications, but also global implications, not just for humans, like, and I think that's where this idea that Gabby's working on of carbon footprints of types of data like this is really important. So yeah, I think ultimately, there might be an argument for looking for less rather than more to start with, because then you can answer the question that's in front of you well, and then in the future, when you need more, you can go look for it, then, of course, the counterpoint to that is, you're not always going to have people sitting in front of you, holding out their arm or offering their mouth for a cheek swab or a blood draw, depending on your method. And there is that kind of idea of: "Let's capture people while they're in front of us" if we're talking about personalized medicine. And so I think we have to think not just about that, but we have to think about ways of engaging populations in this type of work as we go forward.
To I guess build on what Ainsley said from a slightly different angle, I think part of also what is relevant to your question, Diego, is this idea about the value of information. You know, in our society, we value information so highly and in many, many aspects of our lives. It's actually better the more information we have, in terms of what we are requiring the information for, the decisions we need to make, and so on. But in some in many parts of healthcare, but particularly genomics, I think this is a really clear example, where more information is not necessarily better. Because there is so much that we don't know about the genome, there are so many variants that can be reported. And we really don't know what the implications are for health now, or future health or family members and things like that. And so having more information can actually be more burdensome. And you know, that normative question about whether we ought to provide that information or not, it's probably sometimes "no", that we shouldn't give that extra information if it's not valuable in the context in which it's being offered or provided.
So we're conducting our work and data collection data generation, we're doing this in the context of greater tension. In terms of mistrust of public health, mistrust of clinical medicine, we saw it during COVID 19. I'm wondering if you could speak to, a little bit, this idea of trust in public data and data gathering. I know that you've done some work on this. Where does the public trust come into the sort of equation about data generation and what we do with data and the limits of data as well?
Yeah, I am at the start of my trust journey, I should say, I find the concept really interesting. I know that there are different ways of thinking about it. And I, you know, it's kind of next up on my deck, really, to start thinking about this, and how it relates to other conceptual questions, and how they play out with the empirical data. I think for me, I think two things I see. One is that we speak a lot about trust as a key to the door of success here. If we can gain trust, if we are trustworthy, and gain and maintain trust, then it's great, we can carry on. I feel like the way that we gain trust needs a lot of critical exploration. And one of my reasons for that is, I think, that epistemically, it can be really hard for populations to actually grapple some of the complexities of this data. We are all so primed to think that health data can only be a good thing. And that actually, the fact that it can generate uncertainty, the fact that it can be erroneous, is really hard for people to imagine, it's particularly hard for them to imagine it as something that might happen to them. So I feel that trust is really important, but actually not just gaining trust, and all those kinds of ways that we have around trustworthy institutions. And of course, you know, not least privacy and data security, but actually thinking about how we should gain trust, and the barriers to actually ensuring that what might look like trust, actually is.
Great. So, look, with an eye towards wrapping up, I just want to ask the three of you to give us a little bit about what you're working on now, and what we can expect from you in the in the near future in terms of what we're going to be reading soon.
Yeah sure, Diego. Well, as the most junior academic in the room, I'm actually working on my PhD thesis at the moment. So, I look at more specific tests in prenatal genomics, and the extent to which it affects autonomy of expectant parents. So yeah, that's what I'll be working on for the next six months.
I can go next. One of my main ideas I'm working on at the moment is this concept of severity in relation to genetic conditions, which has come out of the work I've done with Ainsley on Mackenzie's mission, and continues as we start to think about severity in relation to things like, other concepts like utility, as Belle was talking about, and actionability, things like that. I'm also really interested in this idea of trust and the relational context in which trust exists, and then the way that different kinds of intervention can influence the trust that exists in healthcare systems. So that's, like, very vague and not very well formed at the moment. But yeah.
As for me, Ainsley, have a few papers coming through in relation to actually something completely different, which is commercial influences on assisted reproduction. So we've got a paper impressed in the Hastings Center Report about hope, and a couple coming through around the role that the patient demand plays and its impact on the health professions. I'm also just getting some work going on ethics and the role of genomics in a different screening context, which is newborn screening. So I'm in a project where that is being actively considered with a nod to also equity and health economics analysis as well as ethics. And I'm leading a very big project, speaking of data, about governance, ethical governance of genomic data, and this is a five year project with 45 Chief investigators, nine associate investigators. So it's it's absolutely enormous. And I just try to think about that day by day, because otherwise I would be so stricken, I couldn't do anything else.
Well, it's good to know that you're all taking a very leisurely approach to academia. So, I want to thank you, the listener, for tuning into this episode of The SHE research podcast. I want to thank Lisa, Bel, and Ainsley for really fascinating, engaging discussion with the paper. We're going to link this paper at the end of the episodes notes, along with the transcript so you can find that as well. The SHE pod is produced by SHE network and edited by Regina Botros. You can find our other episodes on Spotify, Radio Public anchor, wherever you get your podcasts of quality. Thanks again for listening. Bye bye