Insights Into The Danish National Genome Center

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

FLG: Hello and welcome to our latest interview. Today we’re joined by Bettina Lundgren, CEO of the Danish National Genome Center, and she’s going to talk us through the incredible work they’re doing and how they’re aiming to deliver better patient outcomes. So, without further ado, Bettina, could you introduce yourself and give us an overview of your work? 

Bettina: Yes, thank you for the invitation. I was driven in my professional career to change patient outcomes, and the healthcare system, for the benefit of patients today, but also for the future. I’ve been working on implementing new technology into patient healthcare.

My background is as a medical doctor and a microbiologist. I’ve been doing research using genes all my career and implementing IT systems supporting the healthcare system. For the last three years, I’ve been CEO of the Danish National Genome Center, trying to implement whole genome sequencing and new technology, and a new way of working in the Danish healthcare system. 

FLG: Amazing. Thank you. So, you mentioned the Danish National Genome Center, of course. What are the main goals of the work that you do there?  

Bettina: The Danish National Genome Center was established in 2019, based on a strategy to deliver more personalized medicines for patients. In the strategy, all stakeholders – both the state and the hospital regions that run the hospital system in Denmark, as well as universities and other stakeholders – had a joint suggestion of building up infrastructure, which we are doing – technical infrastructure and implementing genomes directly into healthcare for the benefit of patients today. But also benefiting future patients by using the genomes so they could develop more personalized medicine for future patients. 

FLG: Amazing. And what could the development of personalized medicine mean for patients? What could the direct benefits be for patients? 

Bettina: So, the initiative in Denmark is supported by a law – a law about establishing the Danish National Genome Center, and a law stating that whole genomes, or advanced genomes, made in a hospital setting should be reported into a centralized database. And in that database, the patient’s genomes can be viewed all over Denmark.

So, if a patient is transferred, for example, from one place in Denmark to another place, the data can be reused and the data can be used for future patients. So that was the whole initiative and setup. It was benefiting the patient directly, by giving the patient feedback in the form of a diagnosis, or better treatment using the genomes, or maybe prevention if a patient had a hereditary disease, so they could use it for future pregnancies or other things.

It’s all about patients and it’s about giving patients a better diagnosis. That’s what the whole setup is all about. And this is also what my goal is – giving a better outcome for patients. Giving patients a better way of living their life. 

FLG: So, it’s not just helping the individual patient, it will help future generations and a whole network of patients. 

Bettina: Yes. So that’s the initiative and the whole goal about setting up the infrastructure and implementing it directly into healthcare. 

FLG: The Danish population is obviously relatively small. Is there much diversity in the Danish genome? Or have you found anything particularly interesting about the Danish genome since this work started? 

Bettina: We have only been running the whole set up for three years. So, of course, there are interesting findings in the research area, but we are only building the database at the moment, so we are not that far along. But I can give you a concrete example.

We are implementing the setup in patients with immune deficiencies. And we have a very good example of a patient who is 40 years old, and she could not use real shoes. She could not go to work because she had swollen feet, with infections and things. She had tried different treatments. And then having a whole genome sequence done, she found out that she had a severe immune deficiency, and that she was exposed to having infections. These infections are now treated with antibiotics and other treatments. And now she can use real shoes.

What we learned was making a difference for the individual patient. So they could have a better life. She’s only 40 years old, and wouldn’t it be nice to buy a normal pair of shoes instead of having them handmade because you have sore feet every day? This is what we’re here for. Of course, not every patient is getting results like that at the moment, but that’s what makes you happy… trying to implement this whole setup. 

FLG: Wow, it’s really impactful work then, it must be amazing to see a real-life difference. Do you think one day it will be possible to potentially carry out whole genome sequencing on the entire Danish population? Is that a goal of your work? 

Bettina: At the moment, it’s not a goal to do it on every Danish patient. The goal is more about introducing new technology and new diagnostic methods into the setting, and doing it in a way where we will benefit the patients directly.

But of course, there could be benefits to doing this. Like they do in Britain, for example, with newborns. They do it in many places, so that you have your genome, and you can use it later in life. You can use it for preventing disease and all these things. So, I think the technology is developing and is cheaper and easier to perform.

We don’t have a plan for sequencing the whole populationat the moment.Right now we have selected patients, and we will take all genomes that are gathered from the healthcare setting after 2019, but also research genomes. If there’s a research project that was initially created after 2019, in a clinical setting, the data needs to be reported to the Danish National Genome Center. So, we’re making a genome archive that can be used for the patients themselves in the future, but also for research purposes. 

FLG: You mentioned a genome archive – what’s the actual journey between collecting patient information to getting real meaningful results that can impact personalized medicine? 

Bettina: I think we’re impacting personalized medicine already, since we’re implementing the findings  directly into healthcare. We have a different setup than, for example, Genomics England, where one first builds the infrastructure and then has a cohort of rare diseases. We’ve been building the thing for quite some years, and now we are at the same level as they are in Britain where they are connected directly with the health care system, and that benefits patients directly in their treatment. So that is one thing that we are doing. 

FLG: Okay, so really it is an integration with the healthcare system. 

Bettina:  It’s a close integration with the healthcare system. At the moment you can answer some questions using genes or the whole genomes, but there are some questions where you need other healthcare data. Currently, the interpretation and the discussion with patients, it takes place in the healthcare system, where they have all the other data. But we, of course, are working in Denmark towards a larger innovation, where one can use the data from the healthcare system directly with the genomes, and try to use them together both for patient health care, but also for researchers.

We’re not there at the moment, but that’s the ambition. And we have a long tradition in Denmark of having registries and biobanks and other things that can help to get more out of the gene data, but also develop more precision medicine for future patients. That’s actually the ambition. 

FLG: When the Danish National Genome Center first set out, what were attitudes like towards genetic analysis, particularly amongst patients? And in the last few years do you think these attitudes have changed? 

Bettina: In Denmark, we have a population that is very trustworthy towards the authorities and towards healthcare. But of course, when we started doing this, we did some investigations among citizens. And I think some were scared that the data could be used in a way it should not be used. That’s why in Denmark we have quite strict legislation about the way that genomes need to be kept in a safe infrastructure, and they cannot be used for purposes other than in healthcare and in research that has the goal of developing personalized medicine. We have quite strong legislation around the data and that is pretty much because the population were scared of the data being misused.  

I think what we’re finding at the moment, is that if you ask citizens, they don’t know that much about what a whole genome or genome analysis is. But if you explain to them, they will know more. And for the regular citizen, we have 65% or something that support having it done. But if you ask the patients if they will participate, most of them will say yes.

So, I think we are on a journey, where the citizens and the patients are getting used to having their whole genomes done in a setting of having  better health care. We also have a population that supports research, so if you ask them if their data can be used for research, the majority of the patients say yes. We have a system where you can opt out if you don’t want to have your data used for research. That’s the kind of setup that we have.

So, I think the area is moving. But I think it’s very important in the work that you do, that you engage patients so that they participate, and we have them also participating in our different networks where we discuss “How should we do that?” So, they are interacting, and they know how the fields are developing. I think it’s very, very important to engage patients about the work and how you proceed. 

FLG: Just for general citizens, as well as patients, it’s very important to understand what this work entails. And maybe once they understand the benefits for themselves or future generations, then of course they’ll be willing to participate. And speaking of data, obviously, you’re dealing with a huge amount of patient data. What is that like? Because infrastructurally it must be a challenge. 

Bettina: Infrastructure wise, and the whole journey we’ve been through – with the population worrying about data leaks and all these things – of course, you need to be very humble, and you need to be curious that you have the highest security, and all staff working within NGC know the security rules about how to work with the data.

There’s a whole security setup around the infrastructure, due to legislation and the political awareness of this data being very strong, both for the patients and the nation. The data cannot leave Denmark; they need to be on a safe infrastructure. And if you want to work with the data, you need to come into the secure environment. And you can look at the data there, but you cannot take the data out. That’s the setup we have at the moment.

FLG: So, you have those barriers in place to make sure everyone’s data is safe. And you mentioned how the Danish culture has eased your ability to carry out this work. Have there been any legislative barriers to collecting this data?

Bettina: After the legislation was made, there are some things that you’ll be aware of while you are on your journey. For example, at the moment, we cannot do whole genome sequences on patients who don’t give their permission. So that means if you, for example, die, you cannot have a whole genome sequence done. And so that is part of the legislation, that only living people that sign off can have a whole genome done. And that’s something that we are trying to change.

We also have some legislation about how the can data be used together with other data. We are working together with lawmakers, in order to figure out how we can do that in a safe and secure way, and not misuse the data. But still making it safe for patients and then also being able to use the data for both the patient themselves, but also for other future patients. 

FLG: You mentioned that it’s the patients who get whole genome sequencing. Is there sufficient infrastructure for every patient who needs sequencing to have that? Or are there any kind of accessibility problems? 

Bettina: At the moment, we have funding in order to build up the infrastructure and to introduce whole genomes in the healthcare setting. But whole genomes are a huge stack of data, if you were printing them out on paper. And also, keeping them in a computer or supercomputer facility is also very expensive – to build these huge things to store all the data.

I think we are on a journey together, figuring out how should we actually do that in a proper way, in order to do it efficiently. At the moment, we have funding for the data that our start-up project is part of, but we are figuring out how should we  do that for future patients, so we can actually do it in an affordable way, together with the stakeholders that need to use this data. 

FLG: It’s great to see that it’s something you’re working towards – to make it more accessible to everyone. And in terms of personalized medicine as a whole. Are there any recent developments that you’re particularly excited about that you want to share? 

Bettina: I think our Danish setup has been a system of changing the healthcare system. Because if you introduce a new thing into healthcare, into patient treatment, it’s not only building infrastructure and introducing diagnostics. It’s also about, how will you actually interpret data? How will you organize yourself out in the healthcare setting between departments and hospitals and regions, and different workforces in the healthcare setting? Because you need more technology. You need different people coming in into the healthcare system to work with you in order to do so.

At the moment, we focus very much on implementation and the change of the workflow. And what is great to see is how people all across Denmark and our experts are working together. This is pushed into the healthcare system in an equal way, all across Denmark. So, patients with the same disease are getting the benefits of these advances. I think it’s great that we can help to do that.

And then, of course, all the good stories. Not long ago, we had another great story about a cancer patient. The treatment he had did not work anymore, and then he had his whole genome sequenced, and you could see there was an experimental treatment available. And he was elected and transferred into that. It could not save his life, but it could extend his life, so he could have more happy years with his family. And that also makes you happy.

These stories come all the time. It’s very important that we gather evidence to figure out exactly how to use these genomes in patient care, and how to use these genes in order to develop more and more precise medicine. I think that the whole healthcare system, you know… we are getting older, so how should we actually use these resources in the healthcare setting?

Maybe these things can also help us organize the healthcare system in a different way for the future, because some people will have the right treatment. They don’t want to have a one-size-fits-all treatment. They will have treatment that fits directly. For example, if I need to have blood pressure medicine one day, I don’t have to try it out. I can figure out exactly which one will fit my body.

FLG: It’s amazing hearing your patient stories. Thank you for sharing us with them. They’re really amazing to hear. And I know earlier, you mentioned as a security measure, patient information from Denmark doesn’t leave Denmark. I know you’re in partnership with different organizations like Genomics Medicine Sweden. What are these partnerships based on if there’s no sharing of patient data? 

Bettina: What we, and many of the national initiatives, work on is ‘how can we actually share information on data’, instead of transferring data out of the country. Because the diseases are rare diseases in a country, and we need to work together and learn from each other about treatment. We are working at a European and international level to figure out standards and legislation or how can we actually make a platform where we can exchange these things. We do it together with Sweden. We have collaborations with many countries, but in particular with Sweden, England and France, because they are implementing findings directly into healthcare. 

They do it a little differently to us in Sweden, but we learn from each other by. For example, how do we communicate to a citizen and a patient, or how do we communicate to the healthcare professionals, because those are the people who need to introduce these new technologies for the patient. We try to learn from each other.

In Denmark, we have a saying: “You don’t have to invent the wheel all the time”. You can also learn from others and help each other. And I think that’s what we are trying to do, in terms of those close collaborations. In Denmark, we had a lot of problems developing agreements between hospital regions in order to transfer the data into the National Genome Center. And we have heard other countries do that as well. We have also discussed with Britain about how we are implementing interpretation into healthcare.  How much time does it take, and how do we actually do it? How much time should you spend on looking at the data in order to feed the findings back to the patient? Can we exchange experiences on that? I think it’s very, very important that our national initiatives work together and we exchange ideas on how we do that. 

FLG: These collaborations are definitely important to the future of personalized medicine. 

Bettina: Yes, they’re very, very important. I think different countries work on different initiatives, and we share what we find. Of course, there are researchers doing things and they publish their work. And I think that’s very important that we all are aware of how this will move forwards. And how we will do it in a safe and also an ethical way. Because there are also some ethical issues, in terms of how much should you know, how much should you feedback to the patient about their future health? For example, do I know that I will get Alzheimer’s? Do I want to know? And if I knew, what should I know? And is there any way that I, for example, could prevent it?

FLG: I’s a very difficult question. I think, even myself, my opinion on the matter can change day to day. It’s hard to know what to think about that topic. 

Bettina: And the area is moving so fast. They’re gathering so much more data. And also the research areas – what genes, what variants in your genes are actually showing that you are exposed to a certain disease? And what are your chances of getting that disease? Or should you actively do something to try to prevent you getting the disease?

So there are a lot of different areas. And that’s also why I think that you can do so much on data, and you can do so much on artificial intelligence. But I think it’s still important that you have the patient-doctor, patient-healthcare professional relationship, in order to discuss these things, because we are all different in terms of what we want to know and how we want to know it, and what we can actually do about a result. 

FLG: The goal is to benefit the patient, so it’s important to get their opinion on the matter. And looking to the future, what do you hope are some recent or some future developments that will happen in personalized medicine? 

Bettina: I really hope that, together with our efforts across borders, we’ll be able to figure out how we can actually do this in a safe manner. So patients and citizens can still trust us that their data is not being misused, so that we can work across borders and so that we can also get legislation that will make sure that we can use research data for patient treatment, because you’re not allowed to do that in Denmark. And that we can also use, or get, legislation and related things so we can use other data, and we can use it directly to benefit patients now and also in the future.

So, I hope that we can learn from each other and that we can move legislation across borders, and have technology help us with how we can use this data in a safe and wise way in the context of providing a better life for all of us, and – of course – better treatment for the patient. 

FLG: Absolutely. And just to wrap things up, you’ll be joining us at the Festival of Genomics and Biodata in January, which I’m very much looking forward to. I was just wondering if you could let our audience know why you’re excited about attending the Festival. 

Bettina: I’m looking very much forward to coming to the Festival. I think it’s important to share, like I just said, the knowledge and the barriers that we have, in order to advance the area; to build relationships with other researchers and national initiatives that do the same; and to share the experience that we have in Denmark with our set up and invite others to learn more about it. 

FLG: Absolutely. Thank you so much. And thank you for your answers today. They were really insightful and it was great to learn a little more about your work.

Bettina: Thank you very much. I’m looking forward to seeing you soon in January.