Toward Patient Involvement and Representation in the Governance of Genomic Data Archives: Deliberative Forums with Patients in Germany Open Access

Collecting genomic data is pivotal for advancing our understanding of many diseases through research, and for developing new therapies [1]. In recent years, the data storage and sharing capabilities of genomic data archives (GDAs), which are long-term data repositories that collect and share genomic data, have advanced [2]. Although it is generally accepted that decisions about data in GDAs should be made transparently [3], and that including stakeholder views fosters trust [4], designing and implementing governance models for GDAs continue to be associated with challenges. One of these is how the views of stakeholders, especially patients who provide data, can be meaningfully included in decision-making processes [5, 6].

Patient involvement (PI) is supported as an important element of patient-centered care [7] and as a requirement in biomedical research and policy development [8]. There is broad agreement that patients’ perspectives should be included in decision-making about health data collection, sharing, and use [9]. PI encourages accountability [9] and enhances trust in governance structures and health programs [10‒12]. However, patients rarely have a significant role in the governance of health data [13]; their role is often limited to consenting to the use of samples or data for research [5]. When involved in health data governance or research, patient roles may be unclear, limited to consultation, or tokenistic [14]. Often, PI arises after important decisions have been made by experts [15]. These challenges also apply to PI in the governance of GDAs and, depending on the specific health, sociocultural, and resource context, may be more difficult to address in the context of genomic data due to global and systemic factors such as inequities in access to health resources and access to benefits of research, as well as exploitative research practices which may, in turn, be rooted in broader cultural and historical factors [16, 17].

Previous studies have gathered patient perspectives on various aspects of genomic research, including the sharing and use of genomic data [4, 18, 19]. However, no studies have specifically investigated the translation of patients’ preferences into impactful PI in the governance of GDAs [20‒22]. Concerns about the implementation of PI in the governance of GDAs include the following: (1) identifying criteria for legitimate PI in GDAs; (2) designing governance processes that are specific to the sociocultural, legal, and resource contexts of GDAs; and (3) ensuring adequate representation [9, 23]. To our knowledge, no studies have specifically examined how patients prefer to be represented in GDAs, what resources they feel should be made available for effective representation, and which areas of governance they would like to be involved in. There is also little evidence as to what patients expect from their representatives, and how their representatives should be held accountable [8]. This study aimed to address that gap. Moreover, it has been suggested that the relevance and impact of such studies can be improved by having patients not just as participants but also as coresearchers [24, 25]. In Germany, where PI is lagging behind countries with comparable health systems [26, 27], there is little guidance on approaches to implement PI with effective representation. This article describes the PaGODA study (Patient Involvement in the Governance of an Omics Data Archive), in which the perspectives of cancer and rare diseases (RDs) patients in Germany on PI were explored and translated into the governance policy of the German Human Genome-Phenome Archive (GHGA), a GDA that was established in 2020 as a German national infrastructure for genomics data, with an initial focus on cancer and RDs [28].

In this paper, the terms “patient” or “patients” in PI refer to “any individual or group with lived experience of a health or health systems issue, including family members [and] caregivers” [29]. PI has been defined in the literature as “meaningful and active collaboration” with patients or their representatives [29]. The term “governance” is used to refer to “interactions among structures, processes, and traditions that determine how power and responsibilities are exercised, how decisions are taken, and how citizens or other stakeholders have their say” [12].

The study had two objectives:

• (1)

  To explore perspectives of patients or survivors of cancer and RDs concerning their role in the governance of GDAs;

• (2)

  To develop a concept for implementing these perspectives on PI in the governance of GDAs.

To achieve these objectives, we formulated the following research questions:

• (1)

  For objective 1: What are the motives, concerns, and expectations of the cancer and RD patients in Germany participating in the study regarding PI in the governance of GDAs?

• (2)

  For objective 2: In the view of the participating cancer and RD patients, how can PI in the governance of GDAs be implemented to meet patients’ needs, concerns, and expectations?

We chose a qualitative method to explore the complex cultural and ethical factors that we expected would be relevant to potential participants [30]. We reviewed empirical methods and identified deliberative forums (DFs) as suitable for answering the research questions, as DFs allow for collective assessment of views from diverse groups [31], especially where participants have to consider various health-related, social, and ethical aspects [32].

The COREQ Checklist (Consolidated Criteria for Reporting Qualitative Research) [33] for this study can be found in online supplementary material 1 (for all online suppl. material, see https://doi.org/10.1159/000546172). The study protocol was approved by the Ethics Commission of the Medical Faculty of the University of Heidelberg (Ref. S-061/2022). All participants signed an informed consent prior to participation.

It has been suggested that patients should be more actively involved in collecting patient perspectives to make study results more relevant [24]. Two patient coresearchers from the German cancer and RD communities were involved in this study. Before recruitment, they received a description of their roles and the expected time demands (online suppl. material 2). A contract detailing their roles and remuneration was drafted with the help of the legal department of the University of Heidelberg and signed by the coresearchers. Meetings with the patient coresearchers took place online and were recorded after obtaining their consent.

Purposive sampling was used. Criteria for participation were: (1) adult cancer patients or cancer survivors; (2) patients (previously) diagnosed with RDs; (3) individuals with a predisposition to cancer or an RD; and (4) good German language proficiency. Recruitment was carried out nationwide with a recruitment target of 30 participants. We sent invitations via the mailing lists of the 3 main umbrella organizations for patients with RDs and cancer in Germany: Allianz Chronischer Seltener Erkrankungen (ACHSE), Haus der Krebs-Selbsthilfe (HKSH), and Bundesarbeitsgemeinschaft Selbsthilfe (BAG Selbsthilfe) [34‒36].

Those who responded to the invitations were asked to choose one of two possible dates to participate in the forums. For each forum, the participants were further divided into two groups, which were stratified according to sex, age, general disease entity (i.e., cancer or RD), level of education, and membership in a patient organization. The participants were financially compensated. Consent forms were signed electronically. The participants also consented to be recontacted after the DFs, e.g., for an invitation to a follow-up dialogue event.

We conducted two online DFs using the Webex Videoconferencing Tool, each lasting 7 h, on July 9 and 22, 2022. The DFs were audio- and videorecorded. The moderators of the forums (EA and AZ) had experience conducting qualitative research and also attended an online seminar on the moderation of DFs.

Before the DFs, we developed an information booklet in German about the ethical challenges associated with GDAs, which we sent to the participants via email. In addition, two GHGA members (one of whom was AB) were invited to give presentations on the objectives, operations, and challenges of GDAs before each discussion session (see the program of the DFs in online suppl. material 3). A discussion guide (online suppl. material 4), which was prepared jointly with the patient coresearchers, was used to facilitate the discussions. The rules of discussion were made clear at the start of each forum and the participants were encouraged to consider not just their individual but also other possible perspectives on discussion topics. Each DF was structured into four parts: three small-group discussions with breaks in the morning and a two-hour plenary session in the afternoon. Two research assistants took detailed notes.

The recordings of the DFs were transcribed verbatim. The participants’ names were pseudonymized. The transcripts were coded and analyzed using MAXQDA 2020 software (developed by VERBI software). For analysis, we used the framework approach described by Pope et al. [37], which is suited for analyzing qualitative data in applied policy research [38]. Themes were developed deductively from the discussion guide and inductively from the data. A set of the data were double-coded by EA and AZ to ensure consistency of the analysis strategy. After comparison, there were a few minor differences in coding, which were resolved through discussion. For example, we agreed that quotes that had been coded by one coder as “Reasons for not consenting to data use and sharing” almost always referred to aspects of data protection, so the code was changed to the more general “data protection.” The resulting coding framework (online suppl. material 5) was proofread against the research questions to ensure that there were no missing concepts. The framework was then used by EA to code all the other transcripts. Each piece of coded data was indexed and sorted into a Microsoft Excel chart (online suppl. material 6). For this publication, quotes were translated into English by EA (English native speaker).

We summarized the motives, concerns, and expectations of the DF participants concerning PI in the governance of GDAs in a draft document in German. The draft was sent to the participants for feedback and was the starting point of an online consensus-building dialogue event with the participants and GHGA members on March 3, 2023, in which we discussed the implications for PI in the governance of GHGA. All the participants from the DFs were invited to the dialogue event. In this two-hour event, the forum participants gave feedback on the DFs and the draft document. They also discussed issues from the forums on which there had been disagreements on how PI should be implemented in the governance of GHGA. The dialogue event was documented in minutes taken by research assistants (online suppl. material 7).

Twenty-nine individuals accepted the invitation to participate in the DFs and 26 took part in the forums, 18 of whom were female (Table 1). The largest age cohort (n = 11) identified as within the 50–59 years age bracket. As pertains to the highest level of education, the largest cohort (n = 11) had a college diploma. The dialogue event after the 2 DFs had 26 participants: 9 GHGA members and 17 participants from the DFs (65% of DF participants).

A motivation that was frequently mentioned for wishing to be involved in the governance of GDAs was to give patients and their organizations a voice in decisions about what is done with their data, and to be available to give the patients’ perspective on governance and research issues:

As shown in Table 1, most of the participants were members of patient organizations. Some had had positive experiences with involvement in decision-making processes in the health sector in Germany and were therefore eager to participate in other settings:

The participants saw involvement in the governance of GDAs as an opportunity to bring patients together and encourage an exchange of ideas about governance and their illnesses:

Several participants pointed out that PI requires significant time and financial resources, which are often not available. In addition, patients may not be able to participate due to their illnesses. Some participants gave examples:

For some participants, collaboration with other patients could be an added psychological burden:

For several participants, tokenism was a concern:

The participants identified areas in which PI would impact the governance of GDAs (Table 2). For the participants, PI in data access procedures was very important. This included being informed in advance or retrospectively about applications by researchers to access data, reviewing the applications, and, where possible, being involved in deciding whether access to genomic data was granted:

The participants also stressed that their input should be considered when sharing data with for-profit entities, specifically pharmaceutical companies. A few were skeptical about sharing their data with pharmaceutical companies due to privacy concerns and the fear of exploitation. However, many were positive about it, provided that this was done transparently, describing it as a part of translating research findings into diagnostic and therapeutic developments that benefit patients:

The participants explored how such companies can share benefits derived from access to patient data. It was suggested that pharmaceutical companies should support the operations of GDAs, and encourage PI in their research projects, which would empower patient groups.

Participants encouraged incorporating patient input into the development of information materials, to ensure they are patient-friendly. They also identified communication and outreach activities in GDAs as areas that would benefit from PI. As one participant put it,

According to the participants, communication activities in which patients could be involved include ensuring accessibility of digital materials for persons with disabilities, organizing outreach events targeting patients, and establishing networks between patient organizations.

The participants felt that patient representatives in GDAs could have an advisory role to support other patients when they have questions about GDAs or studies. They could also advise patients on issues of consent, including withdrawal of consent, and help patients reach researchers and the management of GDAs.

The participants stressed that GDAs should develop avenues to exchange ideas with patients. In their view, communication motivates the patients to share data and helps to build and maintain trust in GDAs:

Many participants felt that informing patients would be most conveniently achieved electronically on websites and via newsletters, as electronic methods give one control over what and how much information one receives. The participants agreed that GDAs should avail certain resources to the patient representatives, to enable them to conduct their tasks effectively. Among these were continuous training and updates about GDA projects:

The participants emphasized that the work done by the representatives within GDAs should be acknowledged and financially compensated. Travel, parking, and accommodation costs to attend meetings should also be reimbursed.

The participants stressed the importance of being involved as early as possible in various activities:

The participants felt that patients should only be involved in teams and projects in which their involvement has a clear impact. Moreover, they should be regularly informed about the work and progress of the other teams that do not have PI:

The participants agreed that meaningful PI could be achieved by patient representatives who bring patient perspectives into decision-making processes in GDAs:

The recruitment process of patient representatives, and especially the criteria that the representatives should meet, was discussed extensively. There was general agreement that no specific qualifications should be required of patients to represent other patients. Indeed, the risk of recruiting representatives who are too professional was explicitly discussed:

The participants did, however, feel that patient representatives should be committed to representing not just their personal opinions, but those of the patient community. They should have an open attitude, and be ready to acquire the knowledge and communication skills necessary to represent patients adequately and participate in decision-making:

As pertains to the recruitment of the representatives, it was suggested that legitimacy and trust could be promoted by electing representatives:

Other participants saw this differently: they felt that the legitimacy of the representation process would not come from an electoral recruitment process – which, they stressed, would not be logistically feasible to conduct – but from having representatives who are motivated to bring patients’ perspectives into decision-making:

The participants stressed that GDAs should collaborate with patient organizations in the recruitment process. It was agreed that a transparent application process should be used to recruit patient representatives. For example, an advertisement for the positions of patient representatives should be circulated through patient organizations. Moreover, at least 1 patient should be a member of the recruitment panel. The recruited representatives would then constitute a Patient Advisory Board (PAB). The size of the PAB should be flexible so that, depending on future developments of the GDA, more patients could be recruited. Other possibilities of inviting more diverse voices into the decision-making processes of the GDA should also be explored, such as building a pool of patients who could advise on various issues concerning GDAs:

The participants suggested that the representatives should inform patients about the activities of the PAB, e.g., via newsletters, through regular meetings, or on a website. Further, the PAB should regularly meet with GDA members and committees, to establish a shared understanding of the goals and challenges of the GDA. As far as possible, the meetings should be held online or in a hybrid format, to reduce barriers to attendance. The participants stressed that the meetings should have specific thematic foci, to avoid overwhelming the patient representatives with too much information.

This study aimed to explore the perspectives of participating cancer and RD patients in Germany on the governance of GDAs and to demonstrate how, through implementation in governance policy, these patient perspectives can be translated into impactful PI in which patients are adequately represented. The participants stated their motives and concerns about PI in the governance of GDAs. They expressed the need to be involved in decision-making about the use of data, a finding that has been reported in previous studies [39]. Tokenism has been identified as a concern of patients [40]; in this study, too, the participants stressed that PI should be meaningful. To facilitate impactful PI, the participants identified resources that should be made available, notably information, training, acknowledgment, and remuneration. The need for training to improve patient participation in the German context has been suggested in a review [26]. Remuneration of PI in data-intensive research has been discussed in the literature [40], and is particularly important in the German context, where it is common practice that representatives in PABs work on an honorary basis [41‒43]. There was general support for sharing data with for-profit entities, such as pharmaceutical companies, provided that this was done transparently. The participants also suggested that pharmaceutical companies share the benefits of access to patient data by supporting the operations of publicly funded GDAs, and by supporting PI in their research projects, which would empower patient groups. Similar findings on the need for transparency about the commercialization of GDAs have been reported in a previous study [44]. Past research has also shown that commercialization is likely to be supported if patients know that for-profit entities will support future research [45]. To our knowledge, commercial companies sharing benefits by encouraging PI in research to empower patient groups have not been mentioned in previous studies and should be further explored as a means of encouraging patient support for research.

The participants stressed the importance of patient participation in data access procedures to build and maintain trust in GDAs. Previous studies have suggested that to foster the trustworthiness of GDAs, patients should have a say in reviewing and deciding on data access requests based on a weighing of potential benefits and risks of research projects [46].

The participants suggested involving patients in GDA governance through the establishment of PABs. In the literature, there are examples of GDAs that involve patients or the public in the governance of genomic data [47, 48]. However, little attention has been paid to how the patients to be represented (henceforth referred to as “the patient community”) experience the representation through these boards, or what patients expect from their representatives. We see the insights of the participants on this issue of representation as the main contribution of this study to the current body of knowledge on PI in governance and will therefore explore them here in greater detail. In exploring these insights, it is worth noting that some of the participants of this study were members of patient organizations, a possible source of bias.

This study highlights how patients in this setting understand three important aspects of representation as a facet of PI in governance: (1) how representation arises and is legitimized, (2) who is suited to represent patients in the governance of GDAs, and (3) how representatives can be held accountable. There have been theoretical explorations of how representation is achieved. It has been suggested that representation arises from elections and what the elected representatives do [49]. However, this view has been challenged by the perspective that there can be “representative claims” without elections [50, 51]. The question of whether elections are necessary for legitimate representation by patients has also been discussed in a recent article [52]. For the participants of this study, bringing their lived experiences as patients into decision-making was a more important basis for representation than procedural factors like elections, which they considered impractical. We have not found any examples in the literature of PI in GDA governance that was established through electoral processes. Recent work has suggested “descriptive representation,” in which “representatives should be a reliable sample of the represented “by being sufficiently like them,” as a suitable starting point for representation [52]. The findings from this study appear to support this claim, but the effectiveness of choosing representatives based on similarity to the members of the specific patient community needs to be tested in concrete decision-making processes in GDAs. This in turn requires that PI initiatives be reported and evaluated. Such reports and evaluations are still rare in biomedical research and should be encouraged [53, 54], especially in the GDA setting.

The participants supported the view that patients are intrinsically capable of representing other patients due to their lived experiences with illness, independently of whether they have certain (further) qualifications or not. Indeed, added qualifications were seen as a possible obstacle to appropriate representation of the patient community, as they may lead to the patient perspective being “watered down.” This effect of the professionalization of patient representatives has been noted in the literature. Bovenkamp et al. [55] note that “although professionalization is necessary to be able to contribute, it simultaneously creates distance between active participants and those they claim to represent,” and that “when patient organizations focus on their professionalization too much, they move away from the people they represent, which negatively affects their democratic potential.” It is instructive to note that the participants of this study made a clear distinction between: (1) qualities needed for representatives to effectively gather perspectives from and speak for other patients, and (2) those competencies needed for them to interact with experts, e.g., from the medical field, and to make an impact on decision-making. For the latter, the participants noted the need for such competencies as assertiveness and good communication skills in discussions with experts. These expectations contrast sharply with the intrinsic capability that the participants ascribed to patients for the former.

There have been characterizations of what has been described as the “participatory” and “representation” tasks of patient representatives’ work, in the literature [21, 52, 56]. This study goes beyond this description and highlights what the participants saw as possible tensions that may arise in trying to reconcile the requirements needed for them when they are expected to be fulfilled by the same individual. One participant noted that the profile of the ideal representative – a patient who is close enough to the patient experience, but who can contribute and, if need be, assert themselves in discussions with experts – makes it difficult to recruit the right representative. Continuous training, which was suggested by the participants as a facilitator of effective PI in governance, could help bridge the gap between these two sets of expectations. However, there remains the risk of having representatives who are good at gathering patient perspectives but who are not assertive enough to impact decision-making to the advantage of the patient community. Conversely, there may be representatives who have an impact in GDA meetings because they have certain qualifications and can communicate well and assertively, but push the real patient perspective into the background. How this risk can be minimized needs to be investigated theoretically and empirically in the form of evaluations of PI initiatives in GDAs. A solution that was suggested by the participants of this study was the possibility of building a pool of patients other than the representatives on PABs, who make themselves available for questions of GDAs or their stakeholders, as a means of building a broader basis for representation. At any rate, once individuals have been recruited as representatives, the GDAs need to explore, right from the beginning, how to support them, so that the patient community sees them as legitimate and experiences their work as effective.

As pertains to the accountability of representatives to their patient communities, the findings of this study suggest that the patient community in this setting is interested in building a relationship with representatives that is based on regular communication. Some important aspects of communication that were mentioned were updates about representatives’ activities in GDAs, and the ability to easily contact the representatives. In the context of representation in governance, accountability has been defined as “how representatives explain and justify their actions towards those they represent” [57] (as adapted and cited by Holetzek and Holmberg [52]). It is unclear whether this definition can apply to the PI context, as no fixed group of individuals constitutes the patient community. The participants of this study identified the successful inclusion of the patient perspective in decision-making as a measure of the legitimacy of representation and stressed that representatives should keep patients informed about the activities of the PAB, for example in regular meetings, through newsletters, or online. Such meetings may play a role in establishing accountability to the patient community from representatives [52]. However, it has been suggested in the literature that meetings and updates alone may generate little interest from the patient community and may not be sufficient in holding representatives to account [58]. This aspect of PI, too, requires research strategies in concrete GDA governance contexts to evaluate if patient representatives remain aligned with the patient community.

The second objective of this study was to develop a concept for the implementation of PI in the governance of GHGA. This concept was developed and discussed with the study participants during the dialogue event, and published in a white paper [59]. The main aspects of the concept include: (1) the establishment of a PAB, initially with 4 representatives; (2) the recruitment of representatives to the PAB through an open, transparent process with the involvement of patient organizations; and (3) continuous training of representatives. It is noteworthy that the participants were also able to make suggestions on issues on which they had varied opinions, such as the recruitment strategy for patient representatives and the composition of the PAB. The participants’ suggestions regarding PI in data access procedures in GDAs were not taken up in the white paper. This was due to the functionality of GHGA at the time of the study as an archive in which decisions about data access rest with data submitting researchers and institutions who store their data in GHGA. This limitation was communicated openly to the participants in forums, during the development of the white paper, and in the final policy document [59], whose draft was approved by the participants. Alternative avenues for implementing PI in data access procedures that were explored and taken up in the white paper included informing patient representatives about processed data access requests and encouraging their feedback, which could then be considered for future data requests. Patient representatives could also be invited to support researchers applying for access to GHGA data. This study therefore adds to the scant evidence on how the perspectives of patients can be translated into policies of GDAs [20] and illustrates the importance of clearly communicating the contextual limitations of GDAs to participants when conducting such deliberative exercises.

The recruitment method was cost-effective and fostered collaboration with patient organizations. However, it excluded patients who were not in these organizations, or not in their mailing lists, from participating in the study. This may have contributed to a bias toward patients who were already members of patient organizations and better informed. Moreover, some of the study participants were representatives of patient organizations, which may have affected their insights on such themes as representation. Additionally, although online qualitative study methods reduce barriers to participation [60], conducting the DFs online may have excluded potentially interested patients who were either not well versed with online video conferencing platforms, or who did not feel comfortable discussing issues concerning their illnesses online.

To ensure diversity of views in each group, we stratified the patients according to disease group. However, we did not analyze the differences in the perspectives or expectations of individuals with RDs vis-à-vis those with cancer. On the one hand, data protection is particularly important for RD research, since specific RD populations are very small and scattered, presenting a higher privacy risk when genetic information and corresponding physical or disease characteristics are shared [61]. On the other hand, it has been shown that difficulties in finding clear diagnoses and treatments make RD patients particularly committed to advancing research and optimizing data use [62]. An analysis of the perspectives of RD patients may have uncovered important differences in governance preferences compared to cancer patients.

Finally, the sampling, health, sociocultural, and resource contexts of this study were very specific, since only patients with cancer and RDs in Germany were included. This limits the transferability of our approach to GDAs in other cultural or resource settings or GDAs with broader sources of data.

The authors thank the patient coresearchers Anne-Katrin Müller and Frank Brunsmann for their valuable role in reviewing the study protocol, recruitment, and developing the discussion guide. Both agreed to be acknowledged and named as patient coresearchers in this publication. We thank Niamh Sulzbach and Robin Materne for their work as research assistants. We also thank the members of Translational Ethics Working Group at the NCT in Heidelberg and the GHGA for their input and suggestions at various stages of this study.

The study protocol was approved by the Ethics Commission of the Medical Faculty of the University of Heidelberg (Ref. S-061/2022). All participants signed an informed consent prior to participation.

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

This study was funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) as part of GHGA – The German Human Genome-Phenome Archive (www.ghga.de, Grant No. 441914366 [NFDI 1/1]).

E.A.: literature review and study design development. E.A., A.B., C.S., E.W., and A.Z.: conceptualization and development of discussion guide. E.A. and A.Z.: moderation of the deliberative forums; data analysis. E.A.: drafted the manuscript. E.A., A.B., C.S., K.M., E.W., and A.Z.: manuscript review. All authors contributed to the article and approved the submitted version.

Eva Winkler and Andrea Züger contributed equally as last authors.

The data generated and analyzed during this study are included in this article and its online supplementary material files. Further inquiries can be directed to the corresponding author.