Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study.

BACKGROUND: Genetic diagnosis is often understood as a single event within the care pathway of rare disease patients. Legal, policy and ethical scholarship focusing on rare diseases and genetic information discusses questions of how to best deal with the process of genetic diagnosis and the communication of genetic information within a given health system. We co-created a research design with rare disease patients and their families in Austria to explore in-depth the experiences of genetic diagnosis for people affected by rare diseases. Our objective was to trace the whole pathway of genetic testing and understand how rare disease patients experience genetic diagnosis as part of their care pathway in the healthcare system. RESULTS: Data was collected through in-depth semi-structured qualitative interviews with 14 patients with a suspected or diagnosed rare disease or their parents, focusing on their perception of the pathway of genetic diagnosis in Austria. This pathway included the initial triggering of genetic diagnosis, the process of testing and its immediate (communication of results, counselling) and long-term, wider aftermath. Patients missed a clear link to already established forms of care such as their primary care/treating physicians. They also advocate for an integrated and interdisciplinary care pathway. CONCLUSIONS: Our study underscores the importance of a continuous care and communication pathway spanning from the initial genetic diagnosis process to post-test phases. It further shows the importance of exploring patients' perspectives through qualitative research methods to understand the intricate workings of public health policies and tools. Integrating genetic diagnosis into a broader care trajectory is crucial for a holistic approach to care for rare disease patients who often rely on regular interactions with the healthcare system. Achieving this holistic approach requires collaboration between experts in specific rare disease areas, primary care physicians, and support networks.

The European health data space: Too big to succeed?

In May 2022, the European Commission issued the Proposal for a Regulation on the European Health Data Space (EHDS), with the aims of granting citizens increased access to and control of their (electronic) health data across the EU, and facilitating health data re-use for research, innovation, and policymaking. As the first in a series of European domain-specific "data spaces", the EHDS is a high-stakes development that will transform health data governance in the EU region. As an international consortium of experts from health policy, law, ethics and the social sciences, we are concerned that the EHDS Proposal will detract from, rather than lead to the achievement of, its stated aims. We are in no doubt on the benefits of using health data for secondary purposes, and we appreciate attempts to facilitate such uses across borders in a carefully curated manner. Based on the current draft Regulation, however, the EHDS risks undermining rather than enhancing patient control over data; hindering rather than facilitating the work of health professionals and researchers; and eroding rather than increasing the public value generated through health data sharing. Therefore, significant adjustments are needed if the EHDS is to realize its promised benefits. Besides analyzing the implications for key groups and European societies at large who will be affected by the implementation of the EHDS, this contribution advances targeted policy recommendations to address the identified shortcomings of the EHDS Proposal.

Solidarity during the COVID-19 pandemic: evidence from a nine-country interview study in Europe.

Calls for solidarity have been an ubiquitous feature in the response to the COVID-19 pandemic. However, we know little about how people have thought of and practised solidarity in their everyday lives since the beginning of the pandemic. What role does solidarity play in people's lives, how does it relate to COVID-19 public health measures and how has it changed in different phases of the pandemic? Situated within the medical humanities at the intersection of philosophy, bioethics, social sciences and policy studies, this article explores how the practice-based understanding of solidarity formulated by Prainsack and Buyx helps shed light on these questions. Drawing on 643 qualitative interviews carried out in two phases (April-May 2020 and October 2020) in nine European countries (Austria, Belgium, France, Germany, Ireland, Italy, The Netherlands, German-speaking Switzerland and the UK), the data show that interpersonal acts of solidarity are important, but that they are not sustainable without consistent support at the institutional level. As the pandemic progressed, respondents expressed a longing for more institutionalised forms of solidarity. We argue that the medical humanities have much to gain from directing their attention to individual health issues, and to collective experiences of health or illness. The analysis of experiences through a collective lens such as solidarity offers unique insights to understandings of the individual and the collective. We propose three essential advances for research in the medical humanities that can help uncover collective experiences of disease and health crises: (1) an empirical and practice-oriented approach alongside more normative approaches; (2) the confidence to make recommendations for practice and policymaking and (3) the pursuit of cross-national and multidisciplinary research collaborations.

Citizenship in times of crisis: biosocial state-citizen relations during COVID-19 in Austria.

Drawing upon 152 in-depth qualitative interviews with residents in Austria carried out in the first year of the pandemic, this article discusses how people's experiences with COVID-19 policies reflect and reshape state-citizen relations. Coinciding with a significant government crisis, the first year of COVID-19 in Austria saw pandemic measures justified with reference to a biological, often medical understanding of health that framed disease prevention in terms of transmission reduction, often with reference to metrics such as hospitalisation rates, etc. Instead of using this biomedical frame, our interviewees, however, drew attention to biopsychosocial dimensions of the crisis and problematised the entanglements between economy and health. We call this the emergence of a biosocial notion of citizenship that is attentive to psychological, social and economic dimensions of health. Insights into the biosocial nature of pandemic citizenship open a window of opportunity for addressing long-standing social injustices.

Hope in the era of precision oncology: a qualitative study of informal caregivers' experiences.

OBJECTIVES: To explore informal caregivers' perspectives on precision medicine in cancer care. DESIGN: Semi-structured interviews with the informal caregivers of people living with cancer and receiving targeted/immunotherapies. Interview transcripts were analysed thematically using a framework approach. SETTING: Recruitment was facilitated by two hospitals and five Australian cancer community groups. PARTICIPANTS: Informal caregivers (n=28; 16 men, 12 women; aged 18-80) of people living with cancer and receiving targeted/immunotherapies. RESULTS: Thematic analysis identified three findings, centred largely on the pervasive theme of hope in relation to precision therapies including: (1) precision as a key component of caregivers' hope; (2) hope as a collective practice between patients, caregivers, clinicians and others, which entailed work and obligation for caregivers; and (3) hope as linked to expectations of further scientific progress, even if there may be no personal, immediate benefit. CONCLUSIONS: Innovation and change in precision oncology are rapidly reconfiguring the parameters of hope for patients and caregivers, creating new and difficult relational moments and experiences in everyday life and in clinical encounters. In the context of a shifting therapeutic landscape, caregivers' experiences illustrate the need to understand hope as collectively produced, as emotional and moral labour, and as entangled in broader cultural expectations of medical advances. Such understandings may help clinicians as they guide patients and caregivers through the complexities of diagnosis, treatment, emerging evidence and possible futures in the precision era. Developing a better understanding of informal caregivers' experiences of caring for patients receiving precision therapies is important for improving support to patients and their caregivers.

Precision medicine and the problem of structural injustice.

Many countries currently invest in technologies and data infrastructures to foster precision medicine (PM), which is hoped to better tailor disease treatment and prevention to individual patients. But who can expect to benefit from PM? The answer depends not only on scientific developments but also on the willingness to address the problem of structural injustice. One important step is to confront the problem of underrepresentation of certain populations in PM cohorts via improved research inclusivity. Yet, we argue that the perspective needs to be broadened because the (in)equitable effects of PM are also strongly contingent on wider structural factors and prioritization of healthcare strategies and resources. When (and before) implementing PM, it is crucial to attend to how the organisation of healthcare systems influences who will benefit, as well as whether PM may present challenges for a solidaristic sharing of costs and risks. We discuss these issues through a comparative lens of healthcare models and PM-initiatives in the United States, Austria, and Denmark. The analysis draws attention to how PM hinges on-and simultaneously affects-access to healthcare services, public trust in data handling, and prioritization of healthcare resources. Finally, we provide suggestions for how to mitigate foreseeable negative effects.

The social and socio-political embeddedness of COVID-19 vaccination decision-making: A five-country qualitative interview study from Europe.

The uptake ofCOVID-19 vaccines has varied considerably across European countries. This study investigates people's decision-making process regarding vaccination by analyzing qualitative interviews (n = 214) with residents from five European countries: Austria, Germany, Italy, Portugal, and Switzerland. We identify three factors that shape vaccination decision-making: individual experiences and pre-existing attitudes towards vaccination, social environment, and socio-political context. Based on this analysis, we present a typology of decision-making regarding COVID-19 vaccines, where some types present stable stances towards vaccines and others change over time. Trust in government and relevant stakeholders, broader social factors, and people's direct social environment were particularly relevant to these dynamics. We conclude that vaccination campaigns should be considered long-term projects (also outside of pandemics) in need of regular adjustment, communication and fine-tuning to ensure public trust. This is particularly pertinent for booster vaccinations, such as COVID-19 or influenza.

[The climate crisis as an ethical challenge]. / Die Klimakrise als ethische Herausforderung.

Climate change is a threat to health and social security of billions of people. Health and quality of life are increasingly affected in many ways due to the climate crisis. Rising global temperatures are resulting in increasingly frequent and severe extreme weather events, contributing to further increase in inequality, discrimination, and injustice overall and in health care specifically. Furthermore, climatic conditions are also becoming increasingly suitable for the transmission of infectious diseases and their spread into new regions. Socio-economically disadvantaged regions with weak health infrastructure (e.g. Global South) will be hardly able to cope without specific support. The overriding imperative is to achieve reductions in greenhouse gas emissions from transport, energy and food production at global, national and regional levels to mitigate negative health impacts. The 2015 Paris Agreement must also be seen as crucial health agreement. Our paper aims to highlight ethical aspects of climate change in the health sector.

Understanding Pandemic Solidarity: Mutual Support During the First COVID-19 Lockdown in the United Kingdom.

Throughout the COVID-19 pandemic, the concept of solidarity has been invoked frequently. Much interest has centred around how citizens and communities support one another during times of uncertainty. Yet, empirical research which accounts and understands citizen's views on pandemic solidarity, or their actual practices has remained limited. Drawing upon the analysis of data from 35 qualitative interviews, this article investigates how residents in England and Scotland enacted, understood, or criticised (the lack of) solidarity during the first national lockdown in the United Kingdom in April 2020-at a time when media celebrated solidarity as being at an all-time high. It finds that although solidarity was practiced by some people, the perceived lack of solidarity was just as pronounced. We conclude that despite frequent mobilisations of solidarity by policy makers and other public actors, actual practices of solidarity are poorly understood-despite the importance of solidarity for public health and policy.

Democratic research: Setting up a research commons for a qualitative, comparative, longitudinal interview study during the COVID-19 pandemic.

The sudden and dramatic advent of the COVID-19 pandemic led to urgent demands for timely, relevant, yet rigorous research. This paper discusses the origin, design, and execution of the SolPan research commons, a large-scale, international, comparative, qualitative research project that sought to respond to the need for knowledge among researchers and policymakers in times of crisis. The form of organization as a research commons is characterized by an underlying solidaristic attitude of its members and its intrinsic organizational features in which research data and knowledge in the study is shared and jointly owned. As such, the project is peer-governed, rooted in (idealist) social values of academia, and aims at providing tools and benefits for its members. In this paper, we discuss challenges and solutions for qualitative studies that seek to operate as research commons.

The Social Meanings of Artifacts: Face Masks in the COVID-19 Pandemic.

Since the beginning of the COVID-19 pandemic, research has explored various aspects of face mask use. While most of the research explores their effectiveness to prevent the spread of the virus, a growing body of literature has found that using face masks also has social meaning. But what social meaning does it have, and how does this meaning express itself in people's practice? Based on 413 qualitative interviews with residents in five European countries (Austria, Belgium, Germany, Ireland, and Switzerland), we found that the meanings of face masks have changed drastically during the first months of the pandemic. While in spring 2020 people wearing them had to fear stigmatization, in autumn of 2020 not wearing masks was more likely to be stigmatized. Throughout the first year of the pandemic, we found that mask wearing had multiple and partly seemingly contradictory meanings for people. They were perceived as obstacles for non-verbal communication, but also a way to affirm friendships and maintain social contacts. They also signaled specific moral or political stances on the side of face mask wearers and non-wearers alike, expressed their belonging to certain communities, or articulated concern. In sum, our findings show how face masks serve as scripts for people to navigate their lives during the COVID-19 pandemic. We conclude that public and political discussions concerning face masks should include not only evidence on the epidemiological and infectiological effects of face masks, but also on their social meanings and their social effects.

Value-creation in the health data domain: a typology of what health data help us do.

It has become a trope to speak of the increasing value of health data in our societies. Such rhetoric is highly performative: it creates expectations, channels and justifies investments in data technologies and infrastructures, and portrays deliberations on political and legal issues as obstacles to the flow of data. Yet, important epistemic and political questions remain unexamined, such as how the value of data is created, what data journeys are envisioned by policies and regulation, and for whom data types are (intended to be) valuable. Drawing on two empirical cases, (a) interviews with physicians on the topic of digital selfcare, and (b) expectations of stakeholders on the use of Real-World Data in clinical trials, as well as existing literature, we propose a typology of what health data help us to do. This typology is intended to foster reflection about the different roles and values that data use unfolds. We conclude by discussing how regulation can better accommodate practices of valuation in the health data domain, with a particular focus on identifying regulatory challenges and opportunities for EU-level policy makers, and how Covid-19 has shed light on new aspects of each case.

Return of genomic results does not motivate intent to participate in research for all: Perspectives across 22 countries.

PURPOSE: The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally. METHODS: We analyzed the "Your DNA, Your Say" online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle-, and high-income countries, and these were gathered in 15 languages. We analyzed how participants responded when asked whether return of results (RoR) would motivate their decision to donate DNA or health data. We examined variation across the study countries and compared the responses of participants from other countries with those from the United States, which has been the subject of the majority of research on return of genomic results to date. RESULTS: There was substantial variation in the extent to which respondents reported being influenced by RoR. However, only respondents from Russia were more influenced than those from the United States, and respondents from 20 countries had lower odds of being partially or wholly influenced than those from the United States. CONCLUSION: There is substantial international variation in the extent to which the RoR may motivate people's intent to donate DNA or health data. The United States may not be a clear indicator of global attitudes. Participants' preferences for return of genomic results globally should be considered.