Transcript

The One Plus Million Genomes Initiative is a declaration by the European Union in 2018 that recognises the increased digitisation of our healthcare system and also the opportunities provided by genomics, which in combination, can create an environment for more precision medicine through research and in our healthcare system. Data reuse is critical in genomics and perhaps the starting point is to understand that 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 that's translated to the healthcare system. Now to create these discoveries, reuse of data is fundamental. Genomics and identifying causes for rare diseases and cancers is all about pattern recognition. So the more data you have, the greater your ability to recognise what is normally present in a population from what is pathogenic and potentially disease causing. So we need large data sets to do this. With time these data sets are created and assembled, but you need to be able to reuse the data and reanalyse it to be able to identify these patterns. In terms of data security, there is European legislation, but there's also local legislation that will guide the requirements in each country. So we're working carefully with experts in Ireland and with citizens who are contributing to the project to understand the local requirements for data security here. There's flexibility around how the infrastructure is built and deployed in Ireland. So there is an overarching infrastructure from our European partners, but how we deploy it in Ireland will be dependent on local needs. So that can be local needs as dictated by legislation, but also the needs of our stakeholders here, citizens, researchers, clinicians and so on. So we're in the process now of engaging closely with these stakeholders to understand those needs so we can deploy the system here in Ireland in a way that fits local Irish needs. Partnering with patients and the public is fundamental to an initiative like this. And 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 really realise the success of this initiative. What scientists gain from such partnerships is an understanding of the lived experience of a particular disease or indeed a certain aspect. You have to remember that scientists, especially data scientists, they're working day-to-day with data. They work closely with colleagues, but traditionally it's quite rare that they would actually work closely with patients. And this might sound odd, but that has been reality. So the real value for scientists is hearing that patient voice, hearing the lived experience, understanding their needs, which can be sometimes different to what's important to a scientist. So it's understanding the needs of patients and the public so that they shape, in this case, an infrastructure in a manner that fits the needs of that stakeholder group. And in my opinion, this is absolutely fundamental to the success of the project. 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. And that means the person can decide, obviously, whether they want their data in there, but they can also decide to have their data withdrawn. It is entirely within their control. And all of this consent will be based in national legislation, so the health research regulations, but also European GDPR legislation. Now, there can be different levels of consent. For example, an individual might decide for their data to be used or one particular type of study and not another. Now, 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? So that's part of the importance of public and patient involvement in this project, to understand patient and public needs so we can design the consent process to make it as impactful as possible. Specific examples of how patients and the public have already been involved in this initiative in Ireland would include, for example, representing the patient in public voice on the steering committee of the project. So we would report to the steering committee regularly. Patients and the public are on the committee, so they have, they understand what's going on, they can help guide the project. They are also involved in different elements of the project, for example, understanding use cases, creating and understanding use cases for the project. So by that we mean examples of where this infrastructure would be used day-to-day in Irish research. So we have created multiple different use cases and patients and the public are helping us prioritise those use cases to understand where we should put the greatest emphasis and how. They're also involved in how we communicate the project. So for example, if we're creating text for a press release or text for a website, we sit down with our patient and public involvement group and we draft text, we allow them to read it, they provide feedback that allows us to tweak the text and get it in the best possible format. Another example would be risks. So we sit down with patients and the public and we get risks about the project from their particular perspective and when we understand these, we can put safeguards in place to help reduce and offset them. There is incredible benefit that we've already derived from genomics, positive benefit for society and that we can continue to derive into the future. How fast we can realise this is dependent on the infrastructure in place and you can almost think of this as roads across Europe and beyond. You know, we've invested in the past heavily on road infrastructure, on airports and so on. Our society is increasingly becoming digitised. So this is an opportunity for us to get really good impactful infrastructure in place for genomics that relates to healthcare that ultimately can translate to the clinic and have benefit for us as citizens and individuals.