How the 1+MG initiative benefits the public - Interview with Stegania Boccia
In this interview, Stefania Boccia, an expert in public health, explains how the 1+Million Genomes (1+MG) Initiative is improving diagnostics and treatments for rare and common diseases and supporting prevention and personalised care.
What is the 1+Million Genomes Initiative and what are the aims of the initiative?
The 1+Million Genomes Initiative brings together European Member States and Norway in order to advance research and also access to genomic data linked with clinical data for the benefit of patients, citizens and healthcare professionals.
The aims are to create a secure data infrastructure that brings together the clinical and genomic data from all the Member States and Norway. It will provide the possibility and access to clinicians in every hospital to access this data in a secure manner because the data are stored at the national level, but the federated model allows for everybody to access at the European level.
What is genomic data, and why is it so valuable in healthcare?
The data that will be stored in the infrastructure comprises genomic data.
Genomic data is the data that is taken from a unique DNA, so it is hereditary. DNA is something that can be found in the blood or even in saliva. It can be very simple to collect. Once you have this information, you can make personalised medicine, which means that you can use a specific drug for a specific disease. This is thanks to a variant that is inherited, but also thanks to variants that can be detected in the tissue.
Let's use the example of cancer. We can extract the DNA from the cancer tissue, and the DNA from the tissue can differ from the DNA in the blood. These two levels can be very informative for the clinicians in order to identify the right drug for you.
What impact do you think 1+MG will have on the development of personalised medicine?
Since the human genome was sequenced almost 20 years ago, healthcare has undergone a revolution. Personalised healthcare is a reality, especially in terms of treatment, but not so much in prevention and early detection. 1+MG Initiative will foster research and application in clinical settings of personalised healthcare.
Who will benefit?
First of all, I think that those who will benefit immediately are the patients. Patients with cancer, patients with rare diseases, or patients with cardiovascular diseases. Actually, 10% of chronic diseases are inherited, so they will definitely benefit.
But it is not just about patients, it is also about citizens. Because prevention of diseases could be more personalised with the advantage of a better understanding of the genetic background. There are a number of studies that report how people can change their lifestyle based on the knowledge about their genomic set-up. It is also beneficial for healthcare professionals and the industry since they will have a chance to advance research and develop new drugs. Overall, the benefit will be for society, but also for the healthcare system.
How will the healthcare system and researchers benefit?
The healthcare system can benefit in terms of resilience, especially for people who need a diagnosis for a rare disease and for people who need a targeted therapy for cancer. In terms of prevention, we still need some evidence, but the promise is that eventually the healthcare system can be more resilient when prevention can be more personalised.
Researchers like me will definitely benefit from having access to genomic and clinical data together. So far, we are relying on individual epidemiological databases, but once you have thousands of datasets together, you can definitely spot a limited and small group of high-risk population that can benefit from treatment or early diagnosis or screening.
Are there other benefits?
The 1+MG Initiative also has the potential to impact economic growth and job occupancy in a very positive way. We have bioinformaticians and technicians who work at the interface of healthcare, and also biotechnologists. These kinds of occupations were not that much present at the European level, and I think the opportunities will definitely increase when establishing the genomic infrastructure.
How are citizens informed about how their data will be used? And why is their participation important?
In research hospitals, it is fundamental that citizens participate because eventually this will benefit them. Unfortunately, everybody will be sick at some point in their life. One in five people will develop cancer in their lifetime, so 25% of citizens will develop cancer, and they will benefit from the infrastructure. I think that it is important that citizens are aware of the benefits and the potential challenges when they sign the consent, and they can always withdraw. We should think that we are doing our best to help others and to help ourselves.
Access to genomic and clinical data is completely under strict control. Only special people, like clinicians and researchers, can have access to this data.
How has Italy contributed to and benefited from the 1+MG initiative?
Italy was one of the first countries to sign the 1+MG Initiatives when there were only six countries. Since the beginning, we have believed in this important initiative, thanks to the engagement of the former Minister of Health. After being part of the initiative, we participated in a number of initiatives at the European and national levels. We created the National Mirror Group of the 1+ MG Initiative on ethical and legal framework, and initiatives on research and industry. There are actually 12 mirror groups in Italy, and the latest one is about pharmacogenomics. In order to advance at the national level, we need all the working groups with experts implementing this initiative.
Thanks to the 1+MG Initiative and the Italian Minister of Health, the 12 mirror groups were able to update the national strategy for genomics. In Italy, we have an initiative called Health Big Data that joins together the research hospitals. This initiative only focuses on clinical data, but once joining forces with the 1+MG Initiatives, the genomic data will be in place. This is very important for our country, researchers and patients.