By the nature of the scarcity of research subjects, broad collaborative biobanking and research is often the only way forward to establish etiology and genomic background, and aim for therapeutic relief. Patients and families of patients with rare diseases (RDs) therefore often form long-term relationships with researchers. McCormack et al. (2016) examined the views of this unique group within biobanking, using exploratory studies to collect concerns from 52 RD representatives.1
The study’s authors were interested to learn more about specific concerns that RD patients and their families expressed concerning biobanking and collaborative research involving data and biosample sharing. They were particularly interested in identifying attitudes toward large-scale and international genomics research with data and biosample sharing.
McCormack et al. worked within RD-Connect, an integrated platform developed with funding from the European Union to connect databases, patient registries and biobanks within RD research, seeking to clarify donor concerns on data security, biosample and data misuse, vulnerability, and discrimination. They posed two real-life scenarios to participants in five focus groups attending two RD conferences in 2014, allowing them to explore the issues that arose. Each study session lasted for 60 to 90 minutes and was digitally recorded for later analysis.
Trained moderators presented two scenarios to the focus group participants:
- Reuse of historical consent for further study, and re-consent for repurposing historical specimens for research not included in the initial study parameters
- Participation in large-scale databases for health research
All participants fully supported involvement in research into RDs. This included parents responsible for children with an RD. In general, most participants would seek extra information before taking part in a large-scale study that involved inclusion in a database; they showed particular interest in determining whether this involved data access by third parties. Participants also expressed concern regarding sharing access to personal data, although they noted that the level of trust would influence the attitude toward risk involved in taking part in research.
When the researchers collected the final results from all the focus groups, they found that responses fit into four major themes, reflecting the factors important in decision-making when donors take part in research and biobanking.
Consent and re-consent
Participants saw research donation as a dynamic activity, and this included the consent process. They suggested that the research relationship be mutually respectful for ongoing consent. Some participants expressed concern that re-consent should be expected, to allow biosample use for research outside the scope of the original study, whereas others expected repurposing due to the nature of RDs.
Consent and children
The issue of consent for children’s samples and data also included discussion on re-consent when the subject reached adulthood. One comment regarding re-consent for historical samples pointed out that parents and family members might not wish to be contacted if the child had died.
Data sharing and access
The concept of broad consent did not appeal to participants, with the majority preferring an active opt-in, rather than opt-out, clause to establish permission. A parent of a child with a disabling RD expressed concern that disclosure could cause more discrimination, whereas another family dealing with premature death of a child due to RD was more concerned with aiding research toward a cure despite potential privacy issues. Participants also felt uncomfortable with the idea of data and biosample accessibility by private companies, preferring instead to limit access to only healthcare professionals and researchers. Responses showed concern that commercial interests could overwhelm research goals.
Management, governance and security
Participants expressed concerns over security and privacy for data and biosamples, citing anxiety that disclosure could jeopardize employment, financial outlook and insurance provision, and lead to stigmatization. Overall, participants suggested that involving patient organizations in governance could benefit both patients and research.
In conclusion, McCormack et al. suggest that RD patients and their families see collaboration with researchers and biobanking as a positive relationship, as long as there is mutual respect. Although donors had concerns regarding privacy and data security as research collaborations extend in global scope, they felt that including patient organizations was a good step in ensuring oversight and maintaining control.
1. McCormack, P., et al. (2016) “‘You should at least ask.’ The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research,” European Journal of Human Genetics [Epub ahead of print], doi:10.1038/ejhg.2016.30.