B1MG D1.5 Stakeholders trust in genomic data sharing landscape analysis

This scoping report represents a mission-oriented approach to supporting citizens' engagement and public trust in genomic data sharing, scoping out and suggesting possible approaches. It recognises from the outset that the issues of engagement and trust extend beyond the indispensable involvement of citizens to embrace a much wider range of stakeholders whose buy-in will also be essential to success. This review takes account of the B1MG and 1+MG, and aims to offer conceptual and practical steps for building on those achievements to bridge potential and actual benefits to science and society with a specific focus on citizens.

The rapid progress that has been made in genomics over the past two decades has created much debate (Boccia, 20141). On the one hand, genomics has the potential to deliver earlier diagnosis, more effective prevention programmes and more precise targeting of therapies, in some cases challenging our understanding of the nature of certain diseases. On the other hand, it raises a range of ethical, social and legal challenges (ELSI), including among other issues, protection and ownership of data, the need for care in interpreting data, potential misuse of data by commercial organisations, especially insurance companies, and questions about autonomy and the potential for stigma (National Research Council, 1988). As insights from genomics are increasingly used in clinical settings to inform personalised medicine, these ELSI considerations have been broadened, with many concerned this will widen existing inequalities in health care (Brothers & Rothstein, 20152).

While genetic testing may improve disease prediction, diagnosis, and treatment, the rapid uptake and application of genetics and genomics raise numerous ethical, legal, and social issues (ELSI). One of the most prominent among these is the growing number of possibilities of using genetic information to justify treating individuals differently or profiling specific population groups that may lead to genetic discrimination (GD) (Kim, 20213).

The EU’s General Data Protection Regulation (GDPR) is an important regulatory change at the EU level that has significant implications for the processing of genomic data in research and clinical practice. Recital 51 of the GDPR designates personal data which is, by its nature, particularly sensitive in relation to fundamental rights and freedoms as requiring specific protection, as the context of its processing could create significant risks to those fundamental rights and freedoms. Beside data generation and processing, ensuring data privacy and security requires robust infrastructure, training, as well as careful regulation of access.

To capture the full benefits of genomic data, it must be shared with multiple actors, including: researchers to support academic and clinical research; health providers to support delivery of health services and public health activities; and commercial organisations involved in developing and implementing new health technologies or delivering health care services (Williams et al, 2021 4). Data sharing to facilitate greater genomic research and translation of findings into clinical use relies on the implementation of advanced technological solutions, health workers with the right skills and training to contribute to implementation, the active involvement of citizens and patients that support translation, and implementation of strong regulatory and governance procedures (Raza & Hall, 20175).

In this context, it is unavoidable to mention the concurrent COVID-19 pandemic, in view of the evolution of public awareness of science, as hopes have grown for vaccines and treatments to counter COVID-19. But this enhanced awareness carries corresponding responsibilities alongside the obvious potential benefits for mustering support for science.

The pace of change, already increasingly rapid as science opens ever more doors to understanding of health, disease, diagnosis and treatment, has received dramatic new impetus through the exigencies of the COVID 19. Never in modern times has the population of the planet been subject to such a direct threat to health, and never have science and technology responded with such alacrity, energy and effectiveness. As the European Council secretariat explains in updating on progress towards an international agreement on pandemics, "the sharing of pathogens, biological samples and genomic data as well as the development of timely medical solutions (vaccines, treatments and diagnostics) are vital in order to enhance global pandemic preparedness." (https://www.consilium.europa.eu/en/policies/coronavirus/pandemic-treaty/)

The corresponding leap in citizens' awareness and expectations of the world of science is however presenting a new dilemma: while health policy is encouraging and promoting (and indeed very largely depending on) science to solve the unprecedented challenge that COVID 19 presents, it also has to cater to the importance of bringing society along with developments, to foster understanding and to counter scepticism, suspicion, doubt and even hostility. This concern informs the European Parliament resolution on strengthening the fight against cancer, adopted by the plenary on 16 February 2022. It "encourages the Commission and the Member States to promote the knowledge of cancer biology through the implementation of genomics and informatics infrastructures; urges all implementation partners to be ever mindful of the principles of data privacy and security, trust, transparency, patient centricity and patient involvement at all times." (https://www.europarl.europa.eu/doceo/document/TA-9-2022-0038_EN.html)

Against this background, it is prudent to consider the risk that the application of genome technology to healthcare, despite all its multiple potential benefits as a breakthrough in healthcare, could be confronted with similar turbulence and even negative opinion unless meticulous attention is paid to the challenges of gaining public understanding.

Public understanding is vital in itself to gain trust on this data acquisition – but it is also an indispensable condition for obtaining the policy support that genomic medicine demands for implementing this ambitious project.

At the heart of the 1+MG/B1MG concept is the collection and exchange of citizens' data. It is consequently implicit in the logic of the exercise that the interests of the citizens – whose data is to be collected and exchanged – should receive priority attention, even while solutions are found to the myriad technical, scientific, legal and political issues that the project also raises.

This paper brings focus to this dilemma in European terms, scoping out both the potential and the challenges, and suggesting some approaches that can improve the chances of successful conciliation and mutual understanding between science and citizens – with the attendant benefits accruing to society as a whole.