Since the first national strategy for personalised medicine in 2018, Denmark has worked on implementing genomics and personalised medicine as key elements in the present and future treatment of patients. We have made great advances in the field, which already benefit researchers, clinicians, and patients, but there’s still much work to be done. Therefor we have asked three of the world’s leading experts on genomics what steps we need to take to further develop a successful ecosystem and what barriers we must overcome.
Valtteri Wirta, Head of Clinical Genomics Facility, Science for Life Laboratory in Stockholm and a member of NGC’s international advisory board.
Tim Hubbard, Director of ELIXIR, the European Life Science Infrastructure and a member of NGC’s international advisory board.
Heidi Rehm, Professor of Pathology at Massachusetts General Hospital and the Broad Institute of MIT and Harvard and a member of NGC’s international advisory board.
What are the most important steps in creating and implementing an ecosystem for genomics and personalised medicine?
Valtteri Wirta: “One of the most important things to consider is that you need many competencies to create an ecosystem. You need laboratory professionals, genomics experts, physicians, and healthcare practitioners. You will also need legal and ethics experts. So basically, we need to find a way to bring everyone together.
As we move forward in the field of genomics, we will demonstrate the value of genomic sequencing in a healthcare context. Hence, it becomes less of a political or healthcare question. It will become a movement, and finance and politics will naturally follow. When I look at a genomics ecosystem, it is not sufficient to do genome analysis only. You need to add additional layers of information and data to better understand the complexity. To have these additional layers, you need the political will to finance the initial setup of those processes.”
Heidi Rehm: “To create a good ecosystem, you need proper training in clinical genetics, and you need to know how to interpret variation, whether common or rare. There is a lot of knowledge and understanding of how we do this. But once you learn that, you quickly realize that in most areas of clinical genetics, you have to share data and information to interpret genomes effectively. Therefore, creating an infrastructure and an ecosystem of data sharing and collaboration is one of the most important aspects of genomic medicine.”
Tim Hubbard: “The biggest challenge is bringing together the healthcare system and research science, because analysing genomes is research science. Traditionally, the healthcare system has not made data accessible for research. Making the connection between these two sectors is challenging but necessary because you need the technical expertise. Additionally, there is continuous learning in understanding what is in a genome and how that can feed back into the clinical care of our patients.”
What are the most important barriers to overcome?
Heidi Rehm: “The most challenging issues we face are national laws around data sharing that prohibit the ability to share information outside a country or between different systems. We need to develop better ways to exchange data for patient treatment. There is a constant balance between wanting to share information to help patients and protecting patients’ rights to privacy through regulations and security.”
Tim Hubbard: “We need more genomes to be able to analyse patterns that will lead to better diagnostics and improve our overall ability to analyse genomes. At the moment, we don't collectively have enough, which is why I support projects like ‘1+ Million Genomes’, where the intent is to federate analysis across our continent. This way, genomes become accessible for large collective analysis.”
Valtteri Wirta: “The most important barrier to overcome is creating the ecosystem and getting people to work together. When we can show the full potential of genome technology, things will move quickly. The patients are there, and the medical need is there.
And, of course, we need to take data security seriously. People are trusting us. The healthcare system controls a lot of sensitive, personal data, so information security aspects must be in place. It is not a secret today that there are many cybersecurity issues that come with that responsibility.”