1+Million Genomes initiative explained - Interview with Serena Scollen
In this interview, Serena Scollen, Project Coordinator of the Genomic Data Infrastructure (GDI), explains the vision behind the 1+Million Genomes (1+MG) Initiative and why cross-border collaboration is key to unlocking the full potential of genomic medicine.
What is the 1+ Million Genomes Initiative and why is it important?
The 1+ Million Genomes Initiative is a collaborative effort across 25 EU countries and Norway. It aims to create cross-border access to high-quality genomic data and affiliated clinical data to enable better research, healthcare and policy making.
Genomics has the power to revolutionise healthcare. To achieve this, we need to get to the scale of data to impact better research and better healthcare. One single country alone cannot collect enough genomic data to fully realise that potential. By working together, countries can analyse data on a much larger scale.
How will patients, researchers, healthcare professionals and policymakers benefit from it?
There will be a huge benefit to patients with rare diseases or common complex disorders, cancer, and infectious diseases, because we will be able to better understand those diseases and provide better treatments for the patients.
Researchers will be able to accelerate some of their studies because they are able to access data more effectively. The researchers can access data at a scale that is useful to understand either what is causing a disease, for example, the mutations that might be causing rare disorders, or understand more common complex disorders through the cumulative effect of variation across the DNA.
The research will feed back into the healthcare setting. The healthcare professionals will understand those diseases more effectively and generate hypotheses for improving therapeutic targets. In the end, they will be able to select specific treatments for the patients. In the longer term, we will also be able to have preventative measures to understand the risk of a disease or the possibility that a patient might develop a disease. This will allow us to put preventative medicine approaches into place.
Policymakers will also benefit because they will be able to make better decisions and essentially make things happen. With a better understanding of genomics and health outcomes, policymakers will be able to put in place improved policies for healthcare.
What will this mean for personalised medicine?
Personalised medicine focuses on finding a subset of patients with a specific genetic make-up that might be causing them a risk to a certain disease or a risk to an adverse effect of a treatment. By identifying those patients, we will be able to treat them better and more efficiently. It will not only save healthcare costs, but also spare patients unnecessary treatments or side effects as they go through finding the right treatment for the disorder.
What is being done?
We are building a cross-border infrastructure to manage the genomic data and the affiliated data that is generated at a national level. This includes establishing a system for secure data access, management and analysis.
The infrastructure is designed to be federated. This means that the data stays in the country where it was generated, but you can access that data from several other centres and analyse that data without moving it.
The infrastructure is using open and global standards, which means that the country can select the standards that comply with its national regulations. Data from one country is compatible with data from other countries, which gives the advantage of being able to analyse them together.
Will data be secure?
From the beginning, the 1+ Million Genome Initiative has data protection by design and default. Therefore, a patient who has consented for their data to be used is in full control of how their data is used moving forward into the future.
What data will be included? And who will have access to the data?
Data to be included would be the genomic sequence data. Genomic data represents all of the genes in a person's body, and we can use that data to understand a person's risk of disease. We can also use that data to understand how somebody might react to a specific drug that they are given.
The genomic data will be associated with other data, such as medical conditions or general information about the patient. This combination of data is informative and exciting for researchers and clinicians to understand a patient's profile and understand diseases more effectively. The data will be available for strictly controlled purposes, such as research studies.
What will the Initiative mean for healthcare and for citizens?
The initiative is really exciting. It is game-changing for the field of genomics. It is groundbreaking to bring together so many countries and to be able to analyse genomic data at a scale that is otherwise not achievable by one country alone. This will improve healthcare for citizens across Europe and globally because we'll understand diseases more effectively and how to treat them.