How the 1+MG initiative engages with citizens and patients - Interview with Gianpiero Cavalleri
In this interview, Gianpiero Cavalleri, the GDI Ireland Node lead, explains how cross-border collaboration in genomics helps improve personalised medicine and disease prevention, and how the 1+Million Genomes (1+MG) Initiative is being implemented in Ireland.
What is the 1+Million Genomes Initiative? And what is the aim of the initiative?
The 1+Million Genomes Initiative is a declaration by the European Union in 2018 that recognises the increased digitisation of our healthcare system and the opportunities provided by genomics. In combination, we can create an environment for more precision medicine through research and in our healthcare system.
Data reuse is critical in genomics. Although genomics is used relatively frequently in our healthcare system today, all those discoveries have emerged from the research domain. We need to create discovery in research and translate it into the healthcare system. And to create these discoveries, the reuse of data is fundamental.
Genomics and identifying causes for rare diseases and cancers are all about pattern recognition. The more data you have, the greater your ability to recognise what is pathogenic and potentially disease causing. We need large datasets to do this. With time, these datasets are created and assembled, but we need to be able to reuse the data and reanalyse it to be able to identify these patterns.
Will data be secure?
In terms of data security, there is European legislation, but there is also local legislation that will guide the requirements in each country. In Ireland, we are working carefully with experts and citizens who are contributing to the project to understand the local requirements for data security.
How will the infrastructure work in Ireland?
There is flexibility around how the infrastructure is built and deployed in Ireland. We have the overarching infrastructure with European partners, but how we deploy it in Ireland will be dependent on local needs. This can be local needs as dictated by legislation, but also the needs of our stakeholders, such as citizens, researchers and clinicians. In Ireland, we are engaging closely with these stakeholders so we can deploy the system in a way that fits local Irish needs.
Will Irish citizens be involved?
Partnering with patients and the public is fundamental to an initiative like this. In this context, we are partnering with a diverse group of patients and the public across all aspects of the projects and working with them to realise the success of this initiative. Scientists will be able to gain an understanding of the lived experience of a particular disease from such partnerships.
Scientists, especially data scientists, work day-to-day with data. They work closely with colleagues, but it is quite rare that they would actually work closely with patients. The real value of citizen engagement for scientists is hearing the patient's voice, hearing the lived experience and understanding their needs, which can sometimes be different to what is important to a scientist.
What we are trying to do is to understand the needs of patients and the public so that they shape an infrastructure that fits their needs. In my opinion, this is fundamental to the success of the project.
What are the citizens’ choices?
In Ireland, it is the choice of the individual whether or not they wish to have their data put into this infrastructure, so it would be very much grounded in consent. This means that the person can decide whether they want their data in there, or they can also decide to have their data withdrawn. It is entirely within their control. All of this consent will comply with national health research regulations and European GDPR legislation.
There can be different levels of consent. For example, an individual might decide for their data to be used for one particular type of study and not another. The level or granularity of that consent is going to emerge from our engagement with patients and the public around their needs. What do they want in terms of levels of consent or their different choices? Understanding patients' and the public’s needs is important so we can design the consent process to make it as impactful as possible.
Have citizens and patients been involved in Ireland?
Specific examples of how patients and the public have already been involved in this initiative in Ireland include patient and public representatives on the steering committee, which we report to regularly. Patients and the public are on the committee, so they understand what is happening and provide opinions to guide the project.
They are involved in different elements of the project, for example, creating and understanding use cases for the project, which are examples of where the infrastructure would be used day-to-day in Irish research. We have created different use cases, and patients and the public are helping us prioritise those use cases to understand where and how we should put the greatest emphasis.
They are also involved in how we communicate the project. For example, if we are creating text for a press release or website, we consult our patient and public involvement group. Another example would be risk assessments. We consult the patients and the public to understand risks about the project from their perspective and put safeguards in place to help reduce and offset them.
What are the benefits of the initiative?
There is an incredible benefit that we have already derived from genomics, a positive benefit for society and that we can continue to derive in the future. How fast we can realise this is dependent on the infrastructure. We can think of this as road connections across Europe and beyond – in the past, we have invested heavily in road infrastructure, in airports and so on. As our society is increasingly becoming digitised, this is an opportunity for us to get an impactful infrastructure in place for genomics that relates to healthcare and ultimately can translate research into the clinic to benefit citizens.