How the Danish National Genome Center Uses Patients’ Genomic Data
Astrid Pedersen explains why collaboration is key to the center’s success.
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Most rare diseases have genetic roots. However, because the maladies are so rare (fewer than 5 out of 10,000 people have such conditions), it can be difficult to pinpoint these roots in a person’s DNA. Even for conditions that run in families, multiple genetic samples from family members aren’t always enough to reach a diagnosis. Researchers need access to thousands of samples, and thanks to institutions like the Danish National Genome Center, they now do.
Decades after genomic sequencing first became standardized, organizations like the Danish National Genome Center have now amassed databases containing the genomic information of thousands of patients with rare diseases, from neurological disorders to malformation syndromes, neuromuscular diseases to hereditary cancer risk syndromes.
Principally, the data from these centers can help clinicians actually diagnose new patients with such rare diseases. Beyond that, much work is underway to use these resources to develop new treatments.
Catching up at the Nordic Precision Medicine Forum 2025 in Stockholm, Technology Networks spoke to Astrid Pedersen, special advisor at the Danish National Genome Center, to learn more about the initiative’s work.
Can you introduce yourself and tell us about your career so far?
Astrid Munk Pedersen (AMP):
My name is Astrid Pedersen. I'm a special advisor at the Danish National Genome Center in our research service. I'm a molecular biologist and I've been working with research services for many years. Before I came to the Danish National Genome Center, I was working with biobanks and helping researchers gain access to different biobank material that's also being collected in the clinics, because, in Denmark, we also have a strong tradition for collecting bio-samples from the patients.
LBM:
AMP:
It has been implemented in 17 patient groups, which started in 2022 when the first patient groups were onboarded. By mid-2024, all 17 patient groups were offering whole-genome sequencing (WGS) to the patients. There was a large evaluation of how this had benefited the patients, and it was found that in all 17 of the groups, the patients had either received a better diagnosis, or a diagnosis at all, or better treatment opportunities based on the WGS.
LBM:
You work closely with international partners. Have you worked with Genomic Medicine Sweden?
AMP:
LBM:
How important is cross-border collaboration and accelerating the adoption of genomic medicine? And what role does Denmark play in this global effort?
AMP:
I think collaboration is very important. Genomics is still a relatively new field, and we need to learn from each other. There's no reason for reinventing the wheel; we might as well learn from each other. It’s also very important to establish better data sharing because Denmark is a small country, so, especially within genetics and rare diseases, the databases is very small. So, for our patients and researchers, it is quite important that they can gain access to larger databases, and this is done by collaborating. It's not something that we've solved yet; it's very complicated, especially with this data being moved across the borders. But it's something we're working very hard towards.
LBM:
What steps are being taken to address ethical concerns around genomic data, particularly in relation to privacy, security and patient consent?
AMP:
We have a patient and ethical advisory board. This is very important to us, because we rely on the patients' trust; if the patients won't give us the data, then we can't exist. But, of course, a lot of the more ethical work is actually done at another center, the National Center for Ethics. They are involved in the approval of research projects and obtaining patient consent, for example.
LBM:
Looking ahead, what are some of the key milestones that you hope to see in genomic medicine within the next 5–10 years, both in Denmark and globally?
AMP:
We were funded by a large donation from the Novo Nordisk Foundation and with funding from the Danish regions and a post on the national annual budget. The milestone at that point was to reach 60,000 genomes in the national genome database. Right now, we are just above 44,000, so we hope to reach 60,000 at the beginning of next year. Another important milestone will be improved data sharing nationally. The Danish government has agreed on a vision for better use of health data, which is starting to be implemented right now, because we have a lot of data on all people in Denmark, but it's actually very complicated to get access to these data because they are located at different data sources and different data authorities. That's the vision. Then, internationally, we are part of several EU projects, such as the Genomic Data Infrastructure and also Genome of Europe. We look forward to seeing where they're going. I think they will be very important for the international availability of data in Europe, at least.
LBM:
How are you exploring new technologies in proteomics and multiomics?
AMP:
To my knowledge, there aren’t any national initiatives using these technologies yet – it’s still very research based. So, I don't think there's any national initiatives yet starting up in a clinical setting. But I think it will be something that we will look more into in the future.
LBM:
Some people say that the journey that genomics is taking is a journey that maybe we can expect in, let's say proteomics as well, but it will take time.
AMP:
I agree with that. It’s an important lesson learned from these genomic initiatives: everything takes time. We were established in 2019 and everyone thought these 60,000 genomes would be finished in 2024. It didn’t happen because everything just takes longer, especially because ours is a national initiative.
