**5. Patient involvement**

This section discusses patient involvement (also referred to as patient engagement) in the governance of research, challenges to involving patients effectively and responsibly, and how rare disease patients may be involved specifically in the governance of biobanking and data sharing.

Respect for communities is an important ethical principle in health research. According to Charles Weijer *et al*. researchers have "an obligation to respect the values and interests of the community in research and, wherever possible, to protect the community from harm" [40]. This principle is also prominently featured in the international health research ethics guidelines of the Council for International Organizations of Medical Sciences and World Health Organization: "[r]esearchers, sponsors, health authorities and relevant institutions should engage potential participants and communities in a meaningful participatory process that involves them in an early and sustained manner in the design, development, implementation, design of the informed consent process and monitoring of research, and in the dissemination of its results" (Guideline 7) [41]. Communities are not only defined geographically, but include subpopulations affected by or able to influence research. Patients affected by a particular condition are clearly a key stakeholder in related research.

The involvement of patients and patient advocacy organizations across the research, drug-development, and delivery of care life cycle is increasingly practiced and is the subject of numerous national and international research ethics guidelines. Patient involvement is when patients "meaningfully and actively collaborate in the governance, priority setting, or design and conduct of research" [42]. The term patient is understood broadly to include "those having or a risk of having a medical condition, their families, and their caregivers" [43]. Patients have intimate, lived experience with and understanding of their medical condition, and how symptoms affect their everyday lives. These perspectives can inform the priorities, goals, and conduct of research and the ultimate value new diagnostic tools and therapies can deliver to patients.

The CIOMS/WHO guidelines also reflect the importance of engaging patient communities in the governance of research. Patients have valuable perspectives on both the potential value of research and the acceptability of associated physical and privacy risks. Patients also have perspectives on how consent documentation can meaningfully communicate the nature of research, its benefits and risks, and the safeguards in place to limit risks. Patient involvement in the governance of research can supplement the efforts of RECs to ensure the ethical conduct of research. There is a spectrum of patient involvement approaches, from feedback through surveys or workshops, to advisory boards, to formal leadership roles within research, to patient-led initiatives where patient groups decide when and how to engage experts [44].

Patient involvement can involve important costs and potential delays for research. There is a risk that involvement initiatives successful in specific research and community contexts are extrapolated by policy-makers or oversight bodies into generic ethical requirements [45]. Researchers alone cannot be expected to bear the financial and administrative burden of patient involvement without appropriate support from funding agencies and institutions. Imposing specific forms of involvement as an ethical requirement may also encourage a compliance mentality where

#### *International Data Sharing and Rare Disease: The Importance of Ethics and Patient Involvement DOI: http://dx.doi.org/10.5772/intechopen.91237*

researchers want to get it out of the way rather than developing meaningful community and partnership with patients. Systemic barriers and negative perceptions can discourage patients from meaningfully engaging with researchers. Patients are already dealing with the burden of living with a disease and potentially also the burden of participating in research. It may therefore be difficult for them to visit research sites in order to participate in unpaid involvement activities. Patients may also have negative perceptions that they will not actually be listened to [42]. Some critics have highlighted that patient involvement is usually designed to advance an institutional agenda rather than truly give a voice to all patients [45]. Involvement activities do not necessarily mean that patients have significant decision-making power. Researchers may preferentially seek to engage with patients who have considerable experience as research participants, as well as experience with research involvement activities, which may reduce opportunities to hear other voices.

The organizational governance of patient advocacy groups is often informal, which raises concerns about democratic representation and managing conflicts of interest. There can often be major differences of opinion within a patient community. Some patient advocacy groups receive significant financial support from pharmaceutical companies and may not have formal processes in place for declaring and managing these conflicts [46]. Patient involvement challenges may be exacerbated in rare disease contexts. Patient involvement for rare disease may be difficult for the same reasons that doing research on rare disease is difficult. Patients may be small in number, geographically dispersed, and may have very heterogeneous experiences with the disease. This makes it hard to survey patients about their views on research. Many patients with rare disease struggle to even receive an accurate diagnosis, which may affect their ability to identify with and organize a specific community in the first place.

Patients are also increasingly engaged in the governance of biobanking and data sharing. YOURDNAYOURSAY is an interactive, international, online survey exploring public perspectives about the international sharing of genomic and healthrelated data. The results of the survey address public fears over potential harms, public willingness to release their data, and how trust differs between organizations [47, 48]. A European survey specific to rare disease patients found they were supportive of data sharing to improve research and health care, as long as steps were taken to provide individual patients with meaningful choices, to protect patient privacy, and to provide patients with transparent information about how their data are shared and used [49]. Patients can also be engaged in the design of governance documents for biobanks and databases, such as access policies, privacy safeguards, and consent forms (see previous sections). This involvement can provide assurances that governance strikes an appropriate balance between openness and promotion of science with protection of participant privacy. In many cases, patients may be highly supportive of greater openness in research and their perspectives may serve as a counterweight to overly protective stances by oversight bodies like RECs. Patients may also participate directly on biobank access committees, influencing decisions about which researchers receive samples and data, for which research projects.

Patient involvement in the governance of biobanking and data sharing can raise tensions between community control and scientific openness. In particular, the value of biobanks and data sharing is often dependent on their integration into networks allowing integration of multiple resources to increase statistical power. This is particularly true for rare disease. There is a recognized need for harmonized ethical and legal governance of biobanks and databases to enable such integration. One potential solution is for involvement activities to address the importance of harmonization with patient groups, to make sure this value is taken into account in

the co-development of governance [50]. Another potential solution is to develop more concerted public involvement efforts in the development of international standards for biobank and data sharing governance.
