‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research

Abstract

Within the myriad articles about participants' opinions of genomics research, the views of a distinct group - people with a rare disease (RD) - are unknown. It is important to understand if their opinions differ from the general public by dint of having a rare disease and vulnerabilities inherent in this. Here we document RD patients' attitudes to participation in genomics research, particularly around large-scale, international data and biosample sharing. This work is unique in exploring the views of people with a range of rare disorders from many different countries. The authors work within an international, multidisciplinary consortium, RD-Connect, which has developed an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for RD research. Focus groups were conducted with 52 RD patients from 16 countries. Using a scenario-based approach, participants were encouraged to raise topics relevant to their own experiences, rather than these being determined by the researcher. Issues include wide data sharing, and consent for new uses of historic samples and for children. Focus group members are positively disposed towards research and towards allowing data and biosamples to be shared internationally. Expressions of trust and attitudes to risk are often affected by the nature of the RD which they have experience of, as well as regulatory and cultural practices in their home country. Participants are concerned about data security and misuse. There is an acute recognition of the vulnerability inherent in having a RD and the possibility that open knowledge of this could lead to discrimination.

Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data

“…Participants with genetic exceptionalist views and selfreported familiarity with genomics had the greatest odds (nearly 6 times greater) of being willing to donate their DNA information (compared to those who were unfamiliar with genomics and did not have exceptionalist views). Such willingness among those with personal familiarity has been seen in patient groups who want their data to be put to good use for future disease prevention, or to help future generations within their own family [34,35]. Many of those most willing to donate were also professionals working in the genomics field.…”

Data Rich, Information Poor: Can We Use Electronic Health Records to Create a Learning Healthcare System for Pharmaceuticals?

“…23 Nonetheless, a survey of patients with rare diseases revealed that they are positively disposed toward (genomics) research and toward allowing data and even biosamples to be shared internationally. 24 It is encouraging to observe that those who have most at stake generally come out in favor of secondary use of their data. We would assume that patients would overwhelmingly welcome and support the learning healthcare system, provided there are adequate safeguards for personal data protection.…”

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“…Through these collaborative efforts, there have been marked improvements in disease classification and coding, with a growing acceptance of standard nomenclature and development of policies for ethical and secure data sharing for rare and genetic diseases . This is being complemented by significant developments in genomics knowledge and technologies, which are driving faster and more accurate diagnoses and the development of specific treatments, labeled as “precision medicine” or “personalized medicine.” While the benefits to individuals of such targeted approaches are clear, the same knowledge and technologies are providing opportunities to better understand and assess the impact of disease at a population level.…”