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Objective: Focus groups were convened to explore the concerns, fears, hopes and expectations of rare disease patients about linking and sharing data through an international, collaborative platform. This work is part of RD Connect, the integrated platform connecting resources for rare disease research. Method: Fifty-two participants from fifteen different countries took part - the majority were rare disease patients and/or the parents of children with a rare condition. The groups were exploratory by design and used scenario-based discussion to allow participants to raise issues of their own volition. Results: Focus group participants discussed two scenarios about historical consents, and about health and genomic data being widely shared outside of a local care provider. Focus group members were positively disposed towards research and towards allowing data and biosamples to be shared internationally. Findings show that, while rare disease patients are willing for their/their children’s data to be shared internationally, they would first seek specific information about curatorship and governance as well as the limitations on access and details about security measures. Participants broadly favoured systems run by public organisations such as universities, hospitals and clinics, rather than those kept by private companies. The notion of genetic exceptionalism was widely present and participants viewed data about genetics as having significance over and above other types of data about an individual. This was expressed as recognition that DNA analyses could reveal differences from society’s norms for those with a genetic condition and a fear that knowledge of this has the potential to be used for maleficence or discriminatory purposes. Participants were therefore keen to retain autonomy, for themselves, for their children, and for the group they might represent, by being given the opportunity to consent or re-consent if research purposes change. Many rare disease patients and their families have prolonged contact with research teams and there are strong notions in the findings of a duty to participate in order to aid research progress. It seems that participants expect clinicians and researchers to have concordant duties, including consulting with the patient/family if there is a possibility that new research moves beyond the bounds of the original informed consent. This extends to recontacting children when they come of age, which participants viewed as vital to the preservation of the child-now-adult’s autonomy. Conclusion: The pernicious effects of discrimination are real and recent experiences for many people with rare diseases and their families and while genetic discrimination is banned in most of the countries that our participants are from, it is not always present in legislation or treated in the same manner throughout the world. It is therefore important for rare disease patients and families to mitigate, as far as possible, against uncertainties which might lead to their data “getting into the wrong hands”. Participants have high levels of trust in public institutions and expect such organisations to protect against the possibility of participation in a global database leading to disadvantage. In addition individuals’ levels of trust and attitudes to risk differed and while a large majority of the participants were concerned about threats to privacy and autonomy, the scale and scope of these concerns varied between individuals. Individuals’ approaches were often bounded culturally and this included: politically and socially mediated practices and norms in the country in which they lived; the characteristics of the rare disease that they and/or their child had; and individual experiences with research. It is important for the curators of research systems to recognise therefore that the rare disease patient/family experience is not a homogenous one and policies around data sharing and privacy should take this into account. In addition, all the participants were of the view that the inclusion of patient organisations the ongoing governance of a global platform like RD Connect is vital to reassure participants their concerns have an adequate level of recognition.

The Rare Disease Patient and Ethics Council (RD‐PEC) examines ethical and social questions linked to research taking place in the context of RD‐Connect, Neuromics and EURenOmics. Anyone working on these projects, or with an interest in their work, can ask the PEC to consider an issue that they require expert guidance on. The development of new technologies and approaches for rare disease research infrastructure raises specific ethical issues that are not fully covered by commonly used ethical guidelines. An appropriate ethical clarification of these issues needs an institutional capacity to identify and evaluate them in their concrete contexts. This requires not only intellectual analysis from bioethicists but the empirical experience of patients, families, clinicians and scientists. The RD‐PEC is therefore organised to embrace multidisciplinary and experiential knowledge through the inclusion of diverse professions and patient representatives as well as strong links with the RD‐Connect Patient Advisory Council. The RD‐PEC is a voluntary group which works in a collegiate, collaborative and inclusive manner to provide ethical, social and participatory guidance and balanced opinion that will help to progress the work of RD Connect/Neuromics/EURenOmics. Based on best practice from similar large RD networking projects such as TREAT‐NMD, the RD‐PEC aims to be a reactive and responsive resource which can examine contemporary, pragmatic, sometimes urgent issues around the ethics of research and focus on useful, problem solving for researchers and clinicians. It makes use of a bottom‐up approach, generating knowledge triggered by empirical questions, with relevant results publicly available through the RD Connect website. Rather than being a source of formal or technical guidance on points of law, regulation and governance, the RD‐PEC is a forum for discussion and debate concerning emerging ethical issues and “reflective wisdom” for those posing particular questions. This poster will describe the rationale for forming the RD‐PEC, its structure and how to make use of its expertise.

The Rd-Connect project aims at building up a platform for the linking and exchange of data among researchers working in the field of rare diseases (RD), in particular in RD patient registries, biobanks and bioinformatics. The increase in registration activities and data sharing provides unique opportunities in RD research, but it also brings new challenges in balancing a patient’s right to privacy and integrity. Informed consent and the review of research protocols by a research ethics committee are the standard ways adopted by modern societies to warrant validity of research, respect for persons and their autonomy. However, both process can be costly and time consuming, especially in retrospective research when re-conset of all subjects may be difficult to achieve. In Rd-Connect a discussion on the best models for informed consent has been undertaken by researchers, RD patients, health institutions and industry representatives. The ongoing debate started in Brussels during the Stakeholder Conference (21 and 22 October 2013) and will continue in Rome, during a workshop detailing consent guidelines (23 and 24 April 2014).