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Data Protection and Medical Progress

Mark Daly

By Mark J. Daly, Director, Institute for Molecular Medicine Finland (FIMM). Photo: Veikko Somerpuro

An individual’s medical data is clearly one of the most private elements of personal data – quite clearly deserving of the highest level of data protection. For this to be in the control of the individual is a primary goal of the GDPR. At the same time, as medical science has advanced – and particularly as genome sciences have begun to learn how to derive insights from the integration of DNA information with medical phenotype – a competing stress is sometimes perceived as a challenge. Specifically, critical insights relevant to both individual diagnoses and therapies in rare diseases and cancers as well as the discovery of therapeutically actionable biology in common disease are now possible, but often require genomes and health data from extremely large samples to be analyzed together. How to ethically balance data protection and promote essential medical discoveries and innovation is therefore one of the major challenges in research medicine today.

In Finland, this was tackled proactively and efficiently with an unprecedented national Biobank Act which came into effect in 2013. The law had several critical elements that, while completely protecting individual data consistent with the later GDPR mandate, facilitates responsible and approved medical research in academia or industry. Among the key points are the introduction of the concept that individuals may provide a ‘broad consent’ (and need not consent to each approved biobank project) and a straightforward way in which previously collected samples (from, for example, epidemiological collections of the past) can be transferred to the national biobank framework and used in future studies. Inbuilt into the law are also requirements that individuals may withdraw consent at any time and request data generated from their samples or data. Such a forward-looking framework has resulted already in large-scale and innovative research projects such as FinnGen.

The FinnGen project aims to collect and analyze genome and national health registry information on 500,000 Finns (almost 10% of the population). FinnGen is supported by a unique public-private partnership between Business Finland (a governmentally-funded innovation organization) and a consortium of 9 pharmaceutical companies. Made possible by the progressive Biobank Act, the study has a focus on generating insights relevant to common diseases and will therefore utilize both deeply studied legacy collections, the subjects of which in many cases are quite old, and newly recruited patients from hospital clinics throughout Finland (since launch in August 2017, more than 100,000 individuals have been recruited). With all individuals recruited into a national biobank framework, the project is then approved to perform a broad set of analyses including (from the approved study plan) “identification of deleterious predisposing and protective disease variants, the development and genetic exploration of novel longitudinal disease progression and response phenotypes and the use of genetic information for prioritizing potential drug targets.” That such analysis can be done in an ethically and legally responsible way, with no individually identifiable data in the hands of research staff outside the approved government agencies that handle such data, is a credit to the innovative spirit in Finland and in particular to the commitment of a population who see that the benefit of an advanced medical system comes with a responsibility to permit their data be used in further crucial medical research.

While progress in Finland is happening now, more must be done to ensure this balance is achieved globally. In particular, we must also develop mechanisms for sharing such data appropriately and without personal identifiers across national boundaries, as human biology and medical challenges are greatly shared and the study samples and research efforts in any one country are not adequate to solve the most complex medical problems. Moreover, since medical (and particularly genomic) research has been centered on people of European ancestry, it is ethically imperative that locally appropriate and secure genetic data-sharing techniques be adopted as widely in Asia and Africa as they are in Europe and North America. Only when we achieve this in a way that balances cultural differences and the importance of capacity and infrastructure building in under-resourced locations, will we ensure maximum value is achieved from existing and newly developing medical research efforts around the world – and thereby ensure that the fruits of medical genetics research can optimally inform on the biology of disease in all people.