Precision Medicine Forum Editor Mark Glover spoke to Birgitte ahead of her presentation at the Nordic Precision Medicine Forum in Copenhagen in March.
How long have you been in the field of precision medicine?
I would say twenty years. It was back in 1998 when precision medicine wasn’t really called precision medicine, when we were racing between the US and Europe trying to sequence the human genome.
How have people’s expectations changed?
It has proven to be more difficult than originally anticipated and I think we have over-interpreted the opportunities, perhaps if we had a more modest perspective we could achieve more. I think there are many immediate opportunities, but it feels like people get unhappy if we don’t get them all in the first few steps.
What has been the impact of technology?
It was not until recently that computer power enabled us to take full advantage of being able to sequence the genome, so we now have data-sets that just a few years ago, we were not able to handle. We now have huge amounts of data and this is where we could start to get the breakthrough.
Single gene diseases with a high penetrance are easily identified but identifying diseases with moderate risk factors and having to combine a number of these risk factors makes for a more complicated process that will require even more computer power.
I do think people are appreciating this data paradigm and collaboration is improving, but we have approached this problem in a too simplistic way so far.
What are the attitudes towards data-sharing in Denmark?
It is actually still quite complicated. There are also issues of data protection that are not getting any easier. When it comes to health data we are extraordinarily cautious but when it comes to Facebook, for example, people are ready to tell everyone anything about themselves. Generally, I just think it’s lack of knowledge and people are not aware of risks and benefits, so education is needed. We need to learn to find the right balance.
How can biomarkers be utilised further?
It’s definitely going in the right direction and this whole area is definitely improving but when it comes to a diagnosis for depression, for example, then we have to work together; with the industry, authorities and the academic world, in order to get a consensus so people can get equal treatment throughout the world.
Disease classification systems have been established over many years and to a large extend based on symptoms. We must now try to add a more molecular biological approach to characterise the phenotype and that will obvious have an impact on how we in the future will diagnose patients.
We are progressing, and more and more people are talking about the same things. If we can all work closer and share the same goals, then we have a likelihood of reaching them.
What inspires you?
I am very happy with what I’m doing, and the field is moving in the right direction and I definitely feel a sense of optimism, however, I think we are a long way from being able to treat patients with CNS (Central Nervous System) diseases to the level we all dream of. For me, psychiatric diseases such as schizophrenia and depression might be some of the worse diseases there are. If I can contribute just a small part in helping those who suffer in this way then it makes everything I do worthwhile.
Birgitte Søgaard will be speaking at the Nordic Precision Medicine Forum in Copenhagen which takes place from March 20 – 21. You can register for the event here.