Morally Problematic Situations Encountered by Adults Living With Rare Diseases.

BACKGROUND: Rare diseases are generally poorly understood from scientific and medical standpoints due, to their complexity and low prevalence. As a result, individuals living with rare diseases struggle to obtain timely diagnoses and suitable care. These clinical difficulties add to the physical and psychological impacts of living with chronic and often severe medical conditions. From the standpoint of pragmatist ethics, the morally problematic situations that adults living with rare diseases experience matter crucially. However, there is little known about these experiences. METHODS: A survey study was conducted with 121 adults living with rare diseases in Québec, Canada, to identify morally problematic situations encountered in the healthcare system and everyday life as part of a participatory action research project. Morally problematic situations elicited internal tensions and constraints to agency. RESULTS: Adults living with rare diseases experienced morally problematic situations of stigmatization, disbelief, and sometimes abuse in the healthcare system. These situations were compounded by diagnostic delays, inadequate care, and suboptimal follow-up, and led some individuals to opt-out of medical care. In their personal lives, these individuals sometimes found themselves in situations of physical and financial dependency. They often also had to give up professional occupations, academic training, or life projects. CONCLUSIONS: Adults living with rare diseases experience important morally problematic situations navigating the healthcare system and their everyday lives, some of which could be alleviated through interventions developed through future participatory action research.

An Ethics Action Plan for Rare Disease Care: Participatory Action Research Approach.

BACKGROUND: Owing to their low prevalence, rare diseases are poorly addressed in the scientific literature and clinical practice guidelines. Thus, health care workers are inadequately equipped to provide timely diagnoses, appropriate treatment, and support for these poorly understood conditions. These clinical tribulations are experienced as moral challenges by patients, jeopardizing their life trajectories, dreams, and aspirations. OBJECTIVE: This paper presents an ethical action plan for rare disease care and the process underlying its development. METHODS: This action plan was designed through an ethical inquiry conducted by the Ethics and Rare Diseases Working Group, which included 3 patient partners, 2 clinician researchers, and 1 representative from Québec's rare disease association. RESULTS: The plan is structured into 4 components. Component A presents the key moral challenges encountered by patients, which are the lack of knowledge on rare diseases among health care workers, the problematic attitudes that it sometimes elicits, and the distress and powerlessness experienced by patients. Component B emphasizes a vision for patient partnership in rare disease care characterized by open-mindedness, empathy, respect, and support of patient autonomy from health care workers. Component C outlines 2 courses of action prompted by this vision: raising awareness among health care workers and empowering patients to better navigate their care. Component D compares several interventions that could help integrate these 2 courses of action in rare disease care. CONCLUSIONS: Overall, this action plan represents a toolbox that provides a review of multiple possible interventions for policy makers, hospital managers, practitioners, researchers, and patient associations to critically reflect on key moral challenges experienced by patients with rare diseases and ways to mitigate them. This paper also prompts reflection on the values underlying rare disease care, patient experiences, and health care workers' beliefs and behaviors. Health care workers and patients were the primary beneficiaries of this action plan.

Understanding Rare Disease Experiences Through the Concept of Morally Problematic Situations.

Rare diseases, defined as having a prevalence inferior to 1/2000, are poorly understood scientifically and medically. Appropriate diagnoses and treatments are scarce, adding to the burden of living with chronic medical conditions. The moral significance of rare disease experiences is often overlooked in qualitative studies conducted with adults living with rare diseases. The concept of morally problematic situations arising from pragmatist ethics shows promise in understanding these experiences. The objectives of this study were to (1) acquire an in-depth understanding of morally problematic situations experienced by adults living with rare diseases in the province of Québec and (2) to develop an integrative model of the concept of morally problematic situations. To this end, an online survey targeting this population was developed through a participatory action research project. Respondents provided 90 long testimonies on the most important morally problematic situations they faced, often in healthcare settings. An integrative model was developed based on various qualitative analyses of these testimonies and relevant literature. The integrative model showcases that morally problematic situations have causes (i.e., contextual and relational factors, personal factors, jeopardized valuations), have affective repercussions (i.e., emotions and feelings, internal tensions), prompt action (i.e., through empowerment strategies leading to the evolution of situations), and elicit outcomes (i.e., factual consequences, residual emotions and feelings, positive or negative resolutions). In sum, this study advances understanding of the moral experiences of adults living with rare diseases while proposing a comprehensive conceptual tool to guide future empirical bioethics research on moral experiences.

Fantastic perspectives and where to find them: involving patients and citizens in digital health research.

BACKGROUND: Digital contact tracing and exposure notification apps have quickly emerged as a potential solution to achieve timely and effective contact tracing for the SARS-CoV-2 virus. Nonetheless, their actual uptake remains limited. Citizens, including patients, are rarely consulted and included in the design and implementation process. Their contribution supports the acceptability of such apps, by providing upstream evidence on incentives and potential barriers that are most relevant to users. The DIGICIT (DIGITal CITizenship) project relied on patient and citizen partnership in research to better integrate public perspectives on these apps. In this paper, we present the co-construction process that led to the survey instrument used in the DIGICIT project and the interpretation of its results. This approach promotes public participation in research on contact tracing and exposure notification apps, as well as related digital health applications. OBJECTIVES: This article has three objectives: (1) describe the methodological process to co-construct a questionnaire and interpret the survey results with patients and citizens, (2) assess their experiences regarding this methodology, and (3) propose best practices for their involvement in digital health research. METHODS: The DIGICIT project was developed in four steps: (1) creation of the advisory committee composed of patients and citizens, (2) co-construction of a questionnaire, (3) interpretation of survey results, and (4) assessment of the experience of committee participants. RESULTS: Of the 25 applications received for participation in the advisory committee, we selected 12 people based on pre-established diversity criteria. Participants initially generated 84 survey questions in the first co-construction meeting, and eventually selected 36 in the final version. Participants made more than 20 recommendations when interpreting survey results and suggested carrying out focus groups with marginalized populations to increase representativity. They appreciated their inclusion early in the research process, being listened to and respected, the collective intelligence, and the method used for integrating their suggestions. They suggested that the study objectives and roles be better defined, that more time in the brainstorming sessions be allowed, and that discussion outside of meetings be encouraged. CONCLUSION: Having patients and citizens actively participating in this research constitutes the main methodological strength. They enriched the study from start to finish, and recommended the addition of focus groups to seek the perspective of marginalized groups that are typically under-represented from digital health research. Clear communication of the project objectives, good organization in meetings, and continuous evaluation from participants allow best practices to be achieved for patients' and citizens' involvement in digital health research. Co-construction in research generates critical study design ideas through collective intelligence. This methodology can be used in various clinical contexts and different healthcare settings.

COVID Alert is a mobile application (app) that was developed created to help limit the spread of COVID-19 in Canada. Although promising, these apps have not been widely used by the population, in part due to limited citizen engagement in their design. The DIGICIT project (DIGITal CITizenship) was carried out in partnership with citizens, including patients, to gather public perspective in Quebec, Canada about the COVID Alert app. The purpose of this article is to describe our method of constructing a survey questionnaire with patients and citizens. We have created an advisory committee of 12 participants. Along with the research team, they created a 36-question survey. They also suggested doing focus groups to add data to the survey by reaching marginalized groups that are traditionally excluded from digital health research. We also wanted to know the experience of the participants being included in this study. We conducted interviews and did a small survey with them. They appreciated being included from the beginning of the research, being listened to, and being respected. They appreciated the creativity of the group and the brainstorming sessions. However, they would have liked the tasks to be clearer from the start. They also would have preferred to have more time in the brainstorming sessions to create the survey questions, and to have discussions outside of the meetings. The inclusion of patients and citizens is the main strength of this project. To improve their integration in health research, there needs to be good communication of project objectives. Also, meetings must be well organized, and participants must be able to evaluate their experience.

Public Perspectives on Exposure Notification Apps: A Patient and Citizen Co-Designed Study.

Canada deployed a digital exposure notification app (COVID Alert) as a strategy to support manual contact tracing. Our aims are to (1) assess the use, knowledge, and concerns of the COVID Alert app, (2) identify predictors of app downloads, and (3) develop strategies to promote social acceptability. A 36-item questionnaire was co-designed by 12 citizens and patients partnered with 16 academic researchers and was distributed in the province of Québec, Canada, from May 27 to 28 June 2021. Of 959 respondents, 43% had downloaded the app. Messaging from government sources constituted the largest influence on app download. Infrequent social contacts and perceived app inefficacy were the main reasons not to download the app. Cybersecurity, data confidentiality, loss of privacy, and geolocation were the most frequent concerns. Nearly half of the respondents inaccurately believed that the app used geolocation. Most respondents supported citizen involvement in app development. The identified predictors for app uptake included nine characteristics. In conclusion, this project highlights four key themes on how to promote the social acceptability of such tools: (1) improved communication and explanation of key app characteristics, (2) design features that incentivize adoption, (3) inclusive socio-technical features, and (4) upstream public partnership in development and deployment.