Expanding citizen engagement in the secondary use of health data: an opportunity for national health data access bodies to realise the intentions of the European health data space.

The European Health Data Space (EHDS) aims to make the primary use of health data for healthcare provision more continuous, effective, and (cost) efficient. Moreover, it pursues to facilitate the secondary use of health data for purposes such as research, innovation, and policy making. In the context of secondary use, the EHDS legislative proposal (published on 3 May 2022) argues that Member States should develop Health Data Access Bodies (HDABs) whose responsibilities include facilitating the secondary use of health data, issuing data permits, and implementing high levels of accountability and security. In Belgium, the setup in 2023 of a federal Health Data Agency (HDA) that is developing and implementing a policy strategy and framework for the secondary use of health data, aligns well with the responsibilities set out for HDABs. Even though the EHDS aspires the empowerment of citizens, for instance by giving them access to their health data and control over the healthcare professionals who can consult these data, this call for citizen empowerment resonates less loudly regarding secondary use. We think, however, that elaborating and implementing citizen engagement in the domain of secondary use is required to align secondary use with socio-ethical sensitivities, preferences, and values and to provide social legitimacy and ethical solidity to a health data governance system. When implementing the EHDS legislation on a national level, the Belgian HDA and the future HDABs in general might be excellent opportunities to realise this ambition of citizen involvement and empowerment. More specifically, we urge HDABs, firstly, to expand the field of citizen engagement towards the domain of secondary use and, secondly, to respect and facilitate the diversity of citizen engagement. This would offer citizens genuine, continuous and diversified possibilities of involvement and co-creation concerning the development of a solid ethical governance framework for health data.

Opportunities for a population-based cohort in Belgium.

Population-based cohorts allow providing answers to a wide range of policy-relevant research questions. In Belgium, existing cohort-like initiatives are limited by their focus on specific population groups or specific topics, or they lack a true longitudinal design. Since 2016, consultations and deliberative processes have been set up to explore the opportunities for a population-based cohort in Belgium. Through these processes, several recommendations emerged to pave the way forward - i.e., to facilitate the establishment of administrative linkages, increase digitalisation, secure long-term financial and organisational efforts, establish a consortium of the willing, and identify and tackle ethical and legal bottlenecks. This comment summarizes these recommendations, as these opportunities should be explored in depth to consolidate the existing collaborations between different stakeholders, and refers to current initiatives that can further facilitate the establishment of a Belgian population-based cohort and, more generally, administrative and health data linkage and reuse for research and policy-making.

A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.

Exome-based testing for genetic diseases can reveal unsolicited findings (UFs), i.e. predispositions for diseases that exceed the diagnostic question. Knowledge of patients' interpretation of possible UFs and of motives for (not) wanting to know UFs is still limited. This lacking knowledge may impede effective counselling that meets patients' needs. Therefore, this article examines the meaning of UFs from a patient perspective. A qualitative study was conducted and an interpretative phenomenological analysis was made of 14 interviews with patients with an inherited retinal disease. Patients assign a complex meaning to UFs, including three main components. The first component focuses on result-specific qualities, i.e. the characteristics of an UF (inclusive of actionability, penetrance, severity and age of onset) and the consequences of disclosure; the second component applies to a patient's lived illness experiences and to the way these contrast with reflections on presymptomatic UFs; the third component addresses a patient's family embedding and its effect on concerns about disease prognosis and genetic information's family relevance. The complex meaning structure of UFs suggests the need for counselling procedures that transcend a strictly clinical approach. Counselling should be personalised and consider patients' lived illness experiences and family context.

The Belgian DNA Debate: An Online Deliberative Platform on the Ethical, Legal, and Social Issues of Genomics.

INTRODUCTION: Genomics is increasingly being implemented in the society. To fully realise this implementation, citizens should be consulted about their perspectives on genomics and its associated ethical, legal, and social issues (ELSI) to enable them to co-create with experts a society-supported framework in genomics. METHODS: A Belgian online DNA debate was organised, where 1,127 citizens contributed to its deliberative platform. RESULTS: Contributors expressed a dual attitude towards the societal use of genomic information throughout 5 main themes. Firstly, contributors considered DNA to have a significant but nondeterministic impact on identity. The second theme describes how genomic information may guide people's behaviour but has unfavourable effects such as psychological distress. The third theme covers the tension between a genomics-based responsibility and the rejection of genetic discrimination. The fourth theme depicts how genomic information may be useful for the common good and society at large but how, nevertheless, it should be people's free choice to use this information. In the fifth theme, contributors expressed both willingness to share their data and caution towards the harm and abuses this may engender. Finally, contributors formulated some recommendations for the responsible implementation of genomics. DISCUSSION AND CONCLUSION: The attitude of contributors towards the societal use of genomic information and its ELSI aligns with a soft precautionary approach, in which prudence and the weighing of different values should result in protective measures against potential risks and harms. Further societal implementation of genomics should include these values and concerns.

Ethical values supporting the disclosure of incidental and secondary findings in clinical genomic testing: a qualitative study.

BACKGROUND: Incidental findings (IFs) and secondary findings (SFs), being results that are unrelated to the diagnostic question, are the subject of an important debate in the practice of clinical genomic medicine. Arguments for reporting these results or not doing so typically relate to the principles of autonomy, non-maleficence and beneficence. However, these principles frequently conflict and are insufficient by themselves to come to a conclusion. This study investigates empirically how ethical principles are considered when actually reporting IFs or SFs and how value conflicts are weighed. METHODS: A qualitative focus group study has been undertaken, including a multidisciplinary group of professionals from Belgian centres for medical genetics. The data were analysed thematically. RESULTS: All eight Belgian centres participated in this study. Ethical values were frequently referred to for disclosure policies on IFs and SFs. Participants invoked respect for patient autonomy to support the disclosure of IFs and opt-out options for IFs and SFs, non-maleficence for the professional delineation of reportable IFs and opt-out options for IFs and SFs and (the particular scope of) beneficence for the mandatory reporting of actionable IFs, the delineation of reportable IFs and a current decline of actively pursued SFs. Professional assumptions about patients' genetic literacy were an important factor in the weighing of values. CONCLUSIONS: In line with the traditional bioethical discourse, the mandatory reporting of actionable IFs might be interpreted as a "technological, soft paternalism". Restricting patients' choices might be acceptable, but then its motives should be valid and its beneficent outcomes highly plausible. Hence, the presuppositions of technological, soft paternalism - patients' inability to make informed decisions, normative rationality, the efficacy of beneficent outcomes and the delineated spectrum of beneficence - should be approached critically. Moreover, distributive justice should be considered an important value in the delineation of the current scope of the ethical debate on IFs and SFs. This study of guiding values may stimulate the debate on the ethical grounds for a solid policy on IFs and SFs internationally.

Primary Care Physicians' Perspectives on the Ethical Impact of the Electronic Medical Record.

OBJECTIVE: The aim of this study is to explore whether specific ethical questions arise with the use of a shared electronic health record (EHR) system, based on the daily experience of primary care physicians (PCPs). METHODS: In this qualitative research project, we conducted 14 in-depth semistructured interviews with PCPs in a tertiary hospital setting. RESULTS: We identified 4 themes: 1) PCPs describe the EHR as a medicine with side effects, for which they provide suggestions for improvements; 2) A shared record raises ethical questions related to autonomy and trust; 3) Although use of the EHR often disturbs rapport with the patient, it can also support the patient-doctor interaction when it becomes an active part of the conversation; 4) A shared EHR may cause health care providers (and their relatives) to avoid seeking help for sensitive issues. DISCUSSION: PCPs fear access to results could cause confusion and anxiety in patients, resulting in tensions between autonomy and beneficence. Improved efficiency and quality of care with a shared EHR relies on doctors trusting each other's input to avoid duplicate tests. However, this might compromise a fundamental skeptical attitude in practicing medicine, and we should be aware of a risk of increased confirmation and anchoring bias. CONCLUSION: The EHR is considered to be a work in progress-EHR design could be improved by examining physicians' coping strategies and implementing their suggestions for improvement. Ethical questions related to autonomy, trust, and the status of records that belong to doctor-patients need to be considered in future research and EHR development.

Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres.

BACKGROUND: Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these findings. Discussion points include the practice of unintentionally identified IFs versus deliberately pursued SFs, patient opt-out possibilities and the spectrum of reportable findings. The heterogeneity of advice permits a non-standardised disclosure but research is lacking on actual reporting practices. Therefore, this study assessed national reporting practices for IFs and SFs in clinical ES and the underlying professional perspectives. METHODS: A qualitative focus group study has been undertaken, including professionals from Belgian centres for medical genetics (CMGs). Data were analysed thematically. RESULTS: All Belgian CMGs participated in this study. Data analysis resulted in six main themes, including one regarding the reporting criteria used for IFs. All CMGs currently use ES-based panel testing. They have limited experience with IFs in clinical ES and are cautious about the pursuit of SFs. Two main reporting criteria for IFs were referred to by all CMGs: the clinical significance of the IF (including pathogenicity and medical actionability) and patient-related factors (including the patient's preference to know and patient characteristics). The consensus over the importance of these criteria contrasted with their challenging interpretation and application. Points of concern included IFs' pathogenicity in non-symptomatic persons, IFs concerning variants of uncertain significance, the requirement and definition of medical actionability and patient opt-out possibilities. Finally, reporting decisions were guided by the interaction between the clinical significance of the IF and patient characteristics. This interaction questions the possible disclosure of findings with context-dependent and personal utility, such as IFs concerning a carrier status. To evaluate the IF's final relevance, a professional and case-by-case deliberation was considered essential. CONCLUSIONS: The challenging application of reporting criteria for IFs results in diversified practices and policy perspectives within Belgian CMGs. This echoes international concerns and may have consequences for effective policy recommendations.

Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate.

Incidental or secondary findings (ISFs) in whole exome or whole genome sequencing have been widely debated in recent literature. The American College of Medical Genetics and Genomics' recommendations on diagnostic ISFs have strongly catalyzed the discussion, resulting in worldwide reactions and a variety of international guidelines. This article will outline how propositions on levels of terminology, policy, and underlying values are still internationally criticized and adjusted. Unsolved questions regarding ISFs include a suitable terminology, adequate counseling or informed consent procedures, opt-out possibilities, reporting ISFs to (parents of) minors and values regarding professional duty, patient autonomy, and actionability. These questions will be characterized as intrinsically related and reciprocally maintained and hence, symptomatic, single-level reflections will be marked as ineffective. Instead, a level-integrative approach of the debate that explicitly acknowledges this interaction and considers a balance between internationally significant and case-specific solutions, will be advocated. Second, the inclusion of a patient perspective will be strongly encouraged to complement the professional preponderance in the current debate. The examination of lived patient experiences, a qualitative focus on the subjective meaning of ISFs, and a contextualization of meaning processes will be suggested as specific concretizations. This integrative and inclusive approach aims for a more comprehensive understanding of ISFs, a consideration of all relevant stakeholders' perspective and, ultimately, an effective health-care policy.

The Sexual Adjustment Process of Cancer Patients and Their Partners: A Qualitative Evidence Synthesis.

When confronted with cancer, a prominent challenge for patients and their partners is their changed sexual relationship. An empirically based theoretical model of the sexual adaptation process during cancer might be helpful in guiding the development of adequate interventions for couples who struggle with their sexual relationship. Therefore, the purpose of this study was to synthesize evidence from primary qualitative research studies and to arrive at a detailed description of the process of sexual adjustment during cancer. We conducted a qualitative evidence synthesis of a purposeful sample of 16 qualitative papers, using the meta-ethnography approach to synthesis. We found that the subsequent studies used different theoretical approaches to describe the sexual adaptation process. This led to three divergent sexual adaptation processes: (1) the pathway of grief and mourning, depicting sexual changes as a loss; (2) the pathway of restructuring, depicting the adjustment process toward sexual changes as a cognitive process with a strong focus on the social and cultural forces that shape the values and experiences of sexuality; and (3) the pathway of sexual rehabilitation, depicting sexual changes as a bodily dysfunction that needs treatment and specific behavioral strategies. All three pathways have their own opportunities and challenges. A greater awareness of these different pathways could help healthcare providers to better understand the ways a particular couple might cope with changed sexuality, offering them opportunities to discover alternative pathways for sexual adjustment.

Acting Independently While Living Alone: The Strategies and Struggles of Cancer Patients.

Cancer patients who live alone place specific importance on acting independently during treatment. We want to describe what it means to act independently and which strategies patients use to continue to act independently. We used a qualitative design, based on grounded theory. We interviewed 32 patients, 17 of them a second time. Patients who live alone defined acting independently in two different ways: It meant not only doing things alone but also using the help of others in a controlled way. These two meanings lead to two types of strategies. As treatment evolves, patients needed to change their preferred type of strategies to continue acting independently. Succeeding to change led to a feeling of mastery and success. However, failing to change led to struggling, whereby patients' needs became invisible. Health care providers should anticipate patients' inability to change strategies during cancer treatment, thereby preventing the patient's struggle from only becoming visible during crisis.

Informal support needs of cancer patients who are living alone: a qualitative insight.

OBJECTIVE: Staying independent is an important need for cancer patients living alone. Such patients might have specific informal support needs in order to stay independent. We want to explore which informal support patients living alone perceive as helpful along the cancer care continuum. METHODS: A purposeful sample of 32 patients living alone and undergoing cancer treatment were interviewed, using a semi-structured interview guide. Seventeen of them were interviewed a second time, 8 months to 1 year later. Analysis was conducted using grounded theory techniques. RESULTS: The informal support patients received was not experienced unconditionally positive. We found that an equilibrium was necessary between reducing the disadvantages of living alone while not endangering the advantages of living alone, resulting in a need for an equilibrium between distance and proximity with their informal network. The needed equilibrium was influenced by the patients' history of living alone, the perception of helpfulness of the informal network, the acuteness of side-effects and prognosis of the disease. We found that, as treatment progressed, patients tended to favor proximity and needed a greater share of the support to be provided by professionals. CONCLUSIONS: Cancer patients living alone experience informal support as an ambiguous blessing. Such support has to be given in a fine balance in order to be perceived as helpful. Health care providers should educate the informal network of the patient about which support is helpful, and under what circumstances.