Patients for Patient Safety in the Context of Rare Diseases

Patients for Patient Safety in the Context of Rare Diseases | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Patients for Patient Safety in the Context of Rare Diseases Valerie Matarredona Pérez, Mª Virtudes Pérez-Jover, Cristina Navarro Macia, and 11 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-5536935/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 3 You are reading this latest preprint version Abstract Background : The active involvement of patients and their families in patient safety is essential in healthcare systems. Citizen Science can be useful for this purpose, especially for rare diseases, by gathering data and contributions from patients to design safer environments. The aim of this study was to understand perceptions of critical safety elements in the context of rare diseases, along with facilitators and barriers to patient involvement in patient safety. Results : Three focus groups were held with 12 patients and 18 family members, along with 9 interviews with caregivers and individuals with rare diseases, between May and June 2024. Results were categorized into three main groups: critical elements, barriers, and facilitators of patient safety. Key elements identified for safety included effective coordination and communication. A main barrier was the lack of social skills and empathy from some healthcare professionals. The primary facilitator was social support, which promotes the active involvement of patients in their own safety. The importance of developing a reporting system that enables patients and caregivers to effectively exchange valuable information was highlighted. Conclusions : Coordination, empathy from healthcare personnel, and social support are key aspects of safety. This study demonstrates the usefulness of employing a methodology based on Citizen Science principles, incorporating new elements such as the role of Peer Researchers. Patient safety Rare diseases Safety incidents Citizen Science Patients Introduction Patient safety is a priority in all healthcare systems. It is the responsibility of healthcare institutions and their professional teams, but also of the patients themselves . The new patient safety strategy from the World Health Organization (WHO) for the period 2021–2030 places special emphasis on the involvement of patients and their families in patient safety. Based on the concept of co-production, patients are expected to play an active role as key agents in creating safer environments, both within healthcare institutions and at home. This approach seeks to empower patients and learn from their experiences to better understand the nature of harm and enhance the safety of healthcare service . In parallel, the European Commission is promoting the principles of Citizen Science (CS), as outlined in the Digital4Science strategy . The first applications of CS involved individuals interested in ornithology to analyze bird patterns . Sharing resources (such as home computers’ processing power, in-car navigators, or telescopes) has become a classic example of studies where geographically dispersed citizens voluntarily contribute to data collection and interpretation. In healthcare, there are also examples of this approach, such as the LIVES project and Obstetric Coevolution . Rare diseases are those with a prevalence of fewer than 5 cases per 10,000 people . Many begin at an early age, though due to the high mortality associated with many of these conditions, their prevalence is higher among adults than in pediatric populations. Around 8,000 different types of these low-prevalence diseases (mostly genetic) have been described, affecting nearly every organ. Although the total number of affected individuals is relatively large, the number of people with any specific rare disease is low, which limits both knowledge and research on each disease . CS can be particularly useful in promoting patient safety for rare diseases, for example, by gathering contributions, data, and insights from patients, which, collectively, can help design safer environments . The objective of this study was to understand perceptions of critical safety elements, and the facilitators and barriers to patient involvement in patient safety, in the context of rare diseases. Method This study was a qualitative research study conducted in two phases: the first phase involved focus groups to gain a collective and broad perspective, and the second phase consisted of semi-structured interviews to obtain more specific insights on certain topics that emerged, with the goal of encouraging caregivers to take on the role of researchers. The study received approval from the Research Ethics Committee of the San Juan University Hospital in Alicante (CE 24/050). The focus groups were conducted in Granada, Barcelona, and Elche, while the semi-structured interviews were held either in person or online with participants from the Comunidad Valenciana, Murcia, Islas Baleares, and País Vasco. Phase One: Focus Groups Participants: Three focus groups were conducted, including 12 patients diagnosed with a rare disease and 18 caregivers of such patients (particularly for those who were minors or had significant communication challenges). Inclusion and Exclusion Criteria: Participants included individuals of legal age for healthcare decisions, residing in Spain, with a primary diagnosis of a rare disease or, in some cases, with a suspected diagnosis of a rare disease. Informal caregivers of patients unable to participate in qualitative methods were also included. Recruitment: Snowball sampling was employed through associations of patients with rare diseases residing in Spain. Script Development: The question script for the sessions was developed based on an initial literature review, consultation with the project’s research team, and input from experts in citizen science and rare diseases (see Supplementary Material 1). Procedure: Members of the research team (VHG and JCM), healthcare professionals who regularly worked with patients with these conditions, initiated contact with the leadership teams of the patient associations to recruit participants. The patient associations invited patients and caregivers who met the inclusion criteria to participate, forming groups of 8 to 14 people with a balanced mix of genders, caregivers, and patients. Once participants agreed to take part, the associations put them in contact with the research team. Patients and caregivers were invited to accessible, well-located, spacious rooms with ideal conditions for sound and mobility, within healthcare facilities familiar to the patients. In the case of the Elche group, a researcher (VPJ) contacted local patient associations via email, and the meeting was held at the facilities of Miguel Hernández University. The focus groups were moderated by a member of the research team (VPJ), with the support of VMP and VR for notetaking. Phase Two: Interviews Through Peer Researchers (PRs), a total of 4 individuals with rare diseases and 5 caregivers of patients were interviewed. All participants gave informed consent to take part in the study. The interviews were transcribed and anonymized. The PR role was introduced as a person involved in the research process due to their membership in or direct experience with the group or community being studied—in this case, as family caregivers of individuals with rare diseases. These non-professional researchers, in line with the citizen science approach, provided a unique and valuable perspective, as they share characteristics, experiences, language, and life contexts with the study participants. As part of implementing the PR role, two researchers (VPJ, MGM) provided training to the PRs on research ethics and guidelines for conducting semi-structured interviews and data analysis. This training consisted of two in-person sessions, each lasting one hour. After training, the PR practiced conducting interviews and using the data recording tool on the same online platform that would be used for patient interviews, allowing them to build the skills necessary to perform the task independently and effectively. Three debriefings were conducted using the PULS-DELTA approach a structured review and reflection process on their personal experience, feelings, and emotions while conducting interviews. This approach aimed to reinforce learning and improve both the PR’s future interviews and personal experience. These debriefings took place after the first interview, halfway through the total number of interviews planned, and after the final interview. For the semi-structured interviews, a script was developed in collaboration with the PRs (see Supplementary Material 2), with one PR conducting the interviews and both participating in the subsequent analysis. The interview scripts shared a common structure, focused on three core categories: critical elements for patient safety, barriers, and facilitators for patient engagement in safety. In the case of the semi-structured interviews, these categories were operationalized to make the interviews simpler, more specific, and supported with concrete examples. Data Analysis The main ideas expressed in the focus groups and interviews were coded as verbatims —precise transcriptions or direct quotations of what participants said. The PRs and three members of the research team (VPJ, MGM, and VMP) worked together to create subcategories for classifying these verbatims as critical elements, barriers, or facilitators of patient safety. This categorization process took place in a two-hour, in-person session. Following this, the software ATLAS.ti was used to comprehensively analyze the verbatims from both the focus groups and interviews. This step ensured that the identified subcategories were consistent and aligned with the project’s objectives, with ongoing support and validation from the PRs throughout the process. Results Focus Gorups The focus group sessions were held on February 20, February 28, and May 17, 2024, each lasting an average of two hours (Granada: 2 hours and 15 minutes; Barcelona: 1 hour and 42 minutes; Elche: 2 hours). A total of 12 patients and 18 family members participated, comprising 19 women and 11 men. The average age of individuals with present rare diseases was 30 years (s.d. 20.39). Participants had a range of diagnoses, including Hypermobile Ehlers-Danlos Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome, Congenital Hyperekplexia, Spastic Paraparesis Type 52, Microcephaly-Hypoplasia Syndrome, 22q11.2 Deletion Syndrome, Portosinusoidal Vascular Disorder or Portal Cavernomatosis (Non-Cirrhotic Portal Thrombosis), Coloboma with Autism, Hereditary Hepatic Paraplegia, Ehlers-Danlos Syndrome (EDS), Sanfilippo Syndrome Type 3C, possible Mitochondrial Demyelinating Sensory Motor Polyneuropathy with Parkinson’s Disease and Dementia, and chronic pain. However, some participants had not received a confirmed diagnosis but had a suspected rare disease as their primary diagnosis. Semi-Structured Interviews The PR conducted 9 semi-structured interviews, either in person (n=1) or via the Zoom application (n=1) (Zoom Video Communications Inc., Version 5.14.0, 2023), between May 29 and June 14, 2024. Each interview lasted approximately one and a half hours (Interviews 1 and 2: 1 hour; Interview 3: 1 hour 10 minutes; Interviews 4, 7 and 8: 1.5 hours; Interview 5: 1 hour 40 minutes; Interviews 6 and 9: 40 minutes). A total of 8 women and 1 man participated. Among them, 5 were caregivers (mothers) of children and adolescents with rare diseases, and 4 were individuals diagnosed with rare diseases. The conditions reported by these participants included Vascular or Hypomobile EDS, Antiphospholipid Syndrome (APS), Fibromyalgia, Loeys-Dietz Syndrome (LDS) with EDS-like symptoms, Spinal Muscular Atrophy (SMA) Type 2, and cases without an established diagnosis. The debriefing sessions between the research team and the PR who conducted the interviews were held on May 29, June 5, and June 17, 2024, via Zoom, each lasting an hour and a half. In the first debriefing , after the initial interview, the PR shared her experience as an interviewer and suggested restructuring the interview script to better align with her interviewing style. Throughout these debriefings, she reported that the biggest challenge was maintaining emotional distance during the interviews, as many participants’ experiences mirrored her own. Data Analysis and Category Generation The 378 verbatims identified in the focus groups and interviews were grouped into three major categories: critical elements for patient safety, formed by the subcategories of coordination, communication, accessibility, medication management, and health literacy; barriers to patient involvement in their own safety, subcategorized into lack of social skills and expressions of empathy from healthcare professionals, delays in diagnosis, structures that hinder care, lack of therapeutic treatments, inequities, and differences in follow-up depending on life stage; and facilitators of patient involvement in patient safety, divided into the subcategories of social support, utility of the reporting system, support from social and healthcare spheres, accessible and adapted language, and sources of information (Table 1). Table 1. Operationalisation of the subcategories of analysis. Category Subcategory Operationalisation Critical elements for patient safety Coordination The process by which the different actors, levels and systems of health care are aligned and synchronised to ensure continuity and quality of patient care. Communication Accurate and timely information exchange between health professionals, patients and caregivers Accessibility Ability of patients to obtain in a timely and barrier-free manner the services, treatments and resources necessary to ensure safety Medication management A set of systematic actions that includes the selection, prescribing, dispensing, administration, monitoring, and adjustment of medicines, as well as patient education, to ensure that medicines are used effectively and safely, minimising errors and optimising health outcomes Health literacy Training received by health professionals, patients and their families on rare diseases Barriers to patient involvement in patient safety Lack of social skills and empathy from health professionals Ausencia o inadecuación de comportamientos como la escucha activa, la comunicación clara, el reconocimiento de las emociones del paciente y la respuesta adecuada a las necesidades emocionales, que afectan a la calidad de la interacción y dan lugar a una experiencia sanitaria menos satisfactoria y fiable Delay in diagnosis Unwarranted delay in identifying a disease or condition, which occurs when the clinically appropriate time to perform tests, interpret results, or refer the patient, potentially affecting prognosis or treatment, is exceeded Structures that hinder attention Organisational, administrative or physical barriers, such as limited resources, complex bureaucratic processes, inefficient staff deployment, and long waiting times, which delay or limit access to timely and quality health services, directly affecting patient satisfaction and outcomes Lack of therapeutic treatments Absence or insufficiency of appropriate and available treatment options to address specific health conditions, limiting patients' ability to receive the necessary care and optimise their recovery Lack of equity Inequality in access to health resources, services and opportunities, where different population groups, whether due to socio-economic, geographic, racial or other conditions, do not receive the same quality of care or health outcomes Differences in follow-up according to life stage Variations in the care and monitoring of people's health according to their age and development, with each stage (childhood, adolescence, adulthood and old age) presenting different needs, risks and priorities, requiring specific approaches to health assessment and management to ensure appropriate and effective care Enablers for patient involvement in patient safety Social support A network of interpersonal relationships and resources that provide emotional, informational, instrumental and companionship assistance to individuals, helping them to cope with difficult situations and improve their overall well-being. This support may come from family, friends, co-workers, community groups or health professionals Usefulness of the notification system Capacity for an organised mechanism to record, analyse and report adverse events and errors in medical care, facilitating the identification of trends, continuous process improvement, and implementation of prevention strategies, resulting in safer and higher quality care for patients Social and health support A combination of resources and services that integrate social welfare and health care, providing individuals and communities with the necessary support to address their health needs, improve their quality of life and promote social inclusion. Understandable and adapted language Communicate medical information and procedures in a way that patients can easily understand, facilitating their active participation in their healthcare and improving the effectiveness of communication between professionals and patients Sources of information Specific resources or means by which patients or their caregivers obtain information to manage their health condition Table 2 lists these subcategories and specifies the relevance of each of them with respect to the category to which they belong and according to the total number of citations extracted. Table 2. Relevance of each category by number of ideas reported by participants Categories Subcategories No. of verbatims Relevance of the subcategory within the category (%) Relevance of the subcategory with respect to the total (%) Critical elements for patient safety Coordination 72 46.8 19 Communication 39 25.3 10.3 Accessibility 20 13 5.3 Medication management 16 10.4 4.2 Health literacy 7 4.5 1.9 Subcategory Total 154 40,7 Barriers to patient involvement in patient safety Lack of social skills and lack of empathy from health professionals 47 35.9 12.4 Delay in diagnosis 37 28.2 9.8 Structures that hinder attention 21 16 5.5 Lack of therapeutic treatments 16 12.2 4.2 Lack of equity 6 4.6 1.6 Differences in follow-up according to life stage 4 3.1 1.1 Subcategory Total 131 34.6 Enablers for patient involvement in patient safety Social support 55 59.1 14.6 Usefulness of the notification system 14 15.1 3.7 Health and social support 12 12.9 3.2 Understandable and adapted language 8 8.6 2.1 Sources of information 4 4.3 1.1 Subcategory Total 93 24.7 Total 378 Critical elements for patient safety Coordination was considered a vital element for patient safety by the participants, as there are numerous drawbacks in coordination, both between autonomous communities and between hospitals within the same autonomous community, and even between health professionals in the same centre. In addition, participants highlighted the role of the reference professional in the coordination of care for people with minority diseases, as well as the importance of coordination in the transition from paediatric to adult care. ‘Yes, the rare disease depends on what postcode you have. For everything.’ Father of deceased male. Elche Focus Group. ‘Yes, you can look at the history, but here they have it more complete and they know more’. 58-year-old female patient. Focus group Barcelona. ‘The traumatologist sometimes doesn't know what another doctor is prescribing’. Mother of female patient. Interview. In relation to communication , participants highlighted how miscommunication could lead to adverse events. In addition, they pointed out the need for caregivers to have information to ensure understanding of care and treatments once at home, and the resolution of doubts as a way to avoid risks and ensure compliance with the treatment plan. ‘The advantage that we have in theory is that they give you a phone number and if you call them and anything you need, they will attend to you immediately and sort it out. You don't have to wait on a waiting list, and the peace of mind this gives you is tremendous. I go outside and take the nurses‘ phone number with me’. Female patient, 56 years old. Focus group Barcelona. ‘With the people who are in specialities, I do have a relationship with them, but with the general practitioner perhaps not so much’. Mother of 14-year-old female patient. Interview. Another element identified as critical to safety was accessibility , including access to medication in a timely and appropriate manner, access to genetic testing to facilitate accurate diagnoses and personalised treatments, optimising clinical decision-making and avoiding risks associated with lack of access. ‘You have to know from the social security that for what we have it doesn't come in, it only comes in when you have heart problems... I think it's an injustice’. Female patient, 73 years old. Focus group Granada. ‘The first time to go to genetics, the first time I moved it myself, that is to say, no neurologist referred me’ Mother of 16-year-old male patient. Interview. One element identified as highly critical for patient safety by participants was the handling of medication , whether in pre-registration, dispensing, administration or monitoring, which can cause harm to the patient both in healthcare facilities and at home. ‘When we arrived, specks had come out from the change, from the change of transport, from the trip. Even if you take it from the change from this, it was all speckled. [...] She couldn't take it’. Mother of 15-year-old male patient. Focus group Elche. ‘I even have to calculate myself, because I give him the medication in grams and the doctors prescribe it in millimetres. So I have to calculate it myself’. Mother of 19-year-old female patient. Focus group Granada. Similarly, health literacy or education of patients, caregivers and even health professionals in relation to minority diseases contributes to the reduction of diagnostic errors and complications, improving patient safety and quality of care, and was therefore identified by patients as a critical element for safety. ‘I am in a small town in Asturias, where we have a doctor 24 hours a day. You call him and tell him about this pathology and, perhaps, he might be shocked because they are very rare diseases’. Female patient, 56 years old. Focus group Barcelona. ‘I have a way of communicating that doesn't seem to suit everyone, but there are thousands like me. They don't cause these types of problems: insecurity... I have that privilege, at least I understand what they are talking about and I also try to make it easier for them because I explain things in detail’. Female patient, 33 years old. Focus group Granada. Barriers to patient involvement in patient safety One of the main barriers identified by participants was a lack of social skills and empathy on the part of health professionals , as this can lead to mistrust and a sense of disconnection between patient and professional. When patients or caregivers do not feel understood or valued, they are less likely to participate in their care, share relevant information or follow treatment recommendations, which can compromise their safety and well-being. ‘And what is this? Because of course, it tells you, it doesn't tell you? Are you asking about something? Yes, that his son is going to die at the age of twelve. And that's it. Father of deceased male. Focus group Elche. ‘A bit of empathy, a bit of sensitivity. I think that would be fundamental for the education of our professionals’. Mother of 7-year-old male patient. Focus group Granada. ‘It seems that I am having a bit of luck now with the people who treat him [...] wherever he goes I have to say that they are marvellous, they are very tactful, they treat him well, I am delighted’. Mother of 16-year-old male patient. Interview. Delay in diagnosis was also identified as a barrier, as it is caused by several factors and can lead to deterioration of the health condition, unnecessary complications and decreased effectiveness of treatments. In addition, prolonged uncertainty about health can generate anxiety and distrust in the health system, limiting patients' ability to actively participate in decisions about their care, thus compromising their safety and well-being. ‘It took us about nine months to get a diagnosis. It took us about nine months to get a diagnosis. Mother of 19-year-old female patient. Focus group Elche. ‘After 5 or 6 years I was diagnosed... I went round all the hospitals, all the doctors and there was nothing and thanks to the fact that they have now become involved we have made a lot of progress’. Father of deceased male. Focus group Elche. Another major barrier to patients' involvement in their safety was the structures that hinder care . The lack of such structures can lead to limited access to relevant information and support resources and can create environments where patients do not feel safe and empowered to actively participate in their care. ‘There are a lot of things, and nobody knows about it, it's true’ (referring to aid). Mother of 15-year-old male patient. Focus group Barcelona. ‘However, the card has a long waiting list, and they should at least give a receipt’. Father of 11-year-old male patient. Focus group Granada. ‘We have problems when entering a consultation room, because the door is not wide enough because of the chair. Because of the chair, they have to look for a door, there is no porter to help you’. Mother of 15-year-old male patient. Focus group Granada. In addition, the lack of therapeutic treatments (such as rehabilitation, telemedicine or psychological support) was identified as a barrier in that patients are limited in their ability to actively participate in their recovery and health management, which can lead to a worsening of their conditions and increased vulnerability to errors in medical care. ‘Rehabilitation is a privilege. Female patient, 33 years old. Focus group Elche. ‘You don't have the right to have continuous rehabilitation for a certain period of time, so what happens? So, what happens? You do rehabilitation for 6 months and you get better and then 6 months later you go back’. Mother of 16-year-old male patient. Interviews. Finally, participants highlighted differences in follow-up by life stage and equity as barriers, as patients at different life stages may receive inadequate follow-up or may not be fully informed about their health conditions, and equity promotes an environment in which everyone feels valued and empowered to be involved in decisions about their well-being, which in turn contributes to improving patient safety and the effectiveness of care. ‘But we really had a very early diagnosis, because it is normal for it to be diagnosed from adolescence, the first stage of adulthood, which is when the most serious complications occur’. Mother of a 5-year-old male patient. Interviews. ‘I spent about five months going to the place to get him treated because there is no paediatrician there and this is a disease for adults’. 53-year-old male patient. Focus group Barcelona. ‘We are in a society that in a certain way is not prepared for us to be there’. Mother of 16-year-old male patient. Interviews. ‘It seems unbelievable that in the 21st century, depending on the people who attend you, if you go with your husband, you get more cases and if you go now, you get less. This is hard, but it is real’. Female patient, 49 years old. Interviews. Enablers of patient involvement in patient safety Among the facilitators identified by the participants were social support as a facilitator of patients' involvement in their safety, including aspects such as support from patient associations, information exchange between patients, support for caregivers, involvement/interest of families and the environment, as well as support for the person with the disease. ‘That's why there are also the associations and so on, which also pass on a lot of information’. Father of deceased male patient. Focus group Elche. ‘It would be very interesting if there were disease associations in the hospital’. 55-year-old female patient. Interview. They also highlighted the usefulness of reporting systems , designed to encourage the exchange of information between patients and caregivers in order to prevent possible medication or care errors that may occur at home. ‘I think that's very good. As long as it is not medical advice’. Mother of 5-year-old male patient. Focus group Elche. ‘How to apply for the preferential card, how to do when you go out of the community to a private doctor, to keep that and have part of the money subsidised, all of that is very good’. Mother of 15-year-old male patient. Focus group Granada. On the other hand, the support from the social and health fields was highlighted as a facilitator in terms of the need to create minority disease units as a specialised area dedicated to the comprehensive care of these patients. ‘I have been told that if we present our illness to the tax authorities, we get a tax reduction... How do you have to go to the medical tribunal? With all your medical records? 53-year-old male patient. Focus group Barcelona. ‘Work with a disability, how to find a job, where to go...’. Mother of 29-year-old male patient. Focus group Barcelona. Finally, information sources facilitate the involvement of patients in their safety, as they provide the knowledge necessary for informed decision-making, increase their confidence and participation in the management of their health, as well as the use of adapted and understandable language by professionals. ‘I think that information between parents is very useful, social networks, WhatsApp groups’. Mother of 20-year-old female patient. Focus group Granada. ‘In other words, when they have told me something I didn't understand, they have drawn me pictures’. Mother of 12-year-old female patient. Interview. ‘In a language that is perhaps convoluted, or unclear, or monosyllabic’. Mother of 15-year-old male patient. Focus group Elche. Discussion The aim of this study was to find out the perception of safety-critical elements and facilitators and barriers to patient involvement in patient safety in the case of minority diseases. The novelty of the study lies in the fact that it combines a citizen science approach and a strategy to learn about and involve minority disease patients in patient safety 9 . This study can be classified as co-created as the Peer Researchers participated in the design of the research questions, conducted the interviews, collected data and participated in the analysis and interpretation of results , . In line with patient safety studies , participants pointed to errors in communication and coordination between professionals and units, which confuse patients and carers, as risk factors . They also highlighted the difficulty of access to specialised units, medication management and home treatment as common causes of safety incidents , . Among the barriers, they mentioned the lack of empathy , inadequate communication styles and the absence of organised units for minority diseases, associated with the insecurity of professionals in dealing with these pathologies , . In addition, delays in diagnosis and treatment impact on equity, influenced by geographical location and lack of specific structures . Social support and reporting systems were seen as protective factors: the former fosters involvement in safety, and the latter prevents incidents by drawing on the experiences of professionals and patients . However, the impact of unnecessary treatments, undiagnosed drugs and the number of tests performed were not addressed, suggesting acceptance of these practices in the diagnostic process. Patient involvement The need for a citizen participation-based reporting system is closely related to the various challenges faced by patients and their families in the context of rare diseases. Such a system would become a fundamental tool to address these challenges in an effective and collaborative manner. First, a reporting system based on citizen participation would provide a centralised platform where patients can raise concerns and share their experiences. This would allow for direct communication between those affected and health professionals, making it easier to resolve concerns and obtain appropriate guidance. The preference of these patients lies in a system that promotes the direct exchange of information, underlining the importance of health professionals taking the lead in medication-related discussions. The active involvement of citizens in reporting medication-related problems, contraindications and other aspects of minority diseases would help to avoid errors and improve the quality of medical care . In terms of practical implementation, it is imperative that a reporting system be under the supervision of different health professionals to ensure the integrity and accuracy of the information shared. In addition, the ability to make contributions anonymously can foster an environment of openness and collaboration, while a classification by topic will facilitate the search and retrieval of relevant information. In conclusion, a well-conceived and well-managed reporting system has the potential to positively transform communication and coordination in healthcare, thereby improving quality, safety and patient experience. Citizen science approach This study has been based on the tenets of Citizen Science: generating an open and collaborative project involving a diverse (number and profile) of patients (or their relatives) willing to participate in the genesis and development of the study and discuss the role of patients in the observation and recording of data to actively participate in the generation of a safer environment, creating a strong interaction between patients and healthcare professionals sharing priorities, decisions and methods for a better understanding of the challenge of clinical safety in the case of rare diseases. The PR methodology brings significant added value to the project by facilitating greater empathy and trust between participants and researchers . By sharing lived experiences with interviewees, PRs are able to create an atmosphere of greater openness and understanding, which allows for deeper and more authentic accounts. In addition, their knowledge from the perspective of the patient or caregiver allows them to identify and explore relevant issues that might go unnoticed by traditional researchers. This emotional and contextual proximity enriches the analysis and ensures that participants' voices are represented with greater fidelity and nuance. However, it must be considered in these approaches that both PRs described their experience as intense, as they had to manage the emotional connection that arises when interviewing people in situations similar to their own. This aspect has not been noted in the literature so far 9 and it should be considered in both the study design and its execution, as it is one of the aspects that research ethics committees and investigators must take into account when designing these studies. There is evidence that it enhances research strategies and can lead to new research methods 11 . Direct involvement in a project aimed at improving patient safety allowed them to transform their own experiences into a valuable tool to prevent others from facing the same difficulties. On a personal level, they highlighted the development of new skills, such as conducting interviews and categorizing key ideas, which go beyond their experiences as patients or caregivers. Although they faced challenges, they found their participation deeply fulfilling and felt great pride in contributing to the advancement of knowledge and improvements in patient safety. The opportunity to use their personal experiences to improve others' lives provided them with a strong sense of personal and collective accomplishment. Additionally, one of the reported benefits for peer researchers in these studies is scientific literacy. Conclusions This study highlights the value of integrating a citizen science approach to optimize patient safety in the context of rare diseases, fostering an enriching collaboration with patients and caregivers. The active participation of peer researcher patients has been crucial in accurately identifying risk factors and barriers within the healthcare system, such as deficiencies in communication, empathy, and access to specialized resources. The results indicate that involving individuals who experience these conditions firsthand strengthens empathy and enables more detailed data collection and analysis, addressing aspects often overlooked in traditional studies. Furthermore, implementing a reporting system with citizen participation is proposed as an essential tool for improving communication and coordination between patients and healthcare professionals, promoting a safer and more collaborative environment. This system would allow patients' experiences and observations to become a valuable resource for preventing safety incidents, thereby strengthening trust and transparency in healthcare. Lastly, the citizen science methodology offers significant benefits to participants, who not only acquired new skills but also gained a sense of fulfillment from contributing to the advancement of patient safety. This experience demonstrated that this approach not only enriches the research process but also empowers patients as agents of change, utilizing their experiences to transform the healthcare system for the benefit of all. Abbreviations WHO: World Health Organization CS: Citizen Science PRs: Peer Researchers EDS: Ehlers-Danlos Syndrome APS: Antiphospholipid Syndrome LDS: Loeys-Dietz Syndrome SMA: Spinal Muscular Atrophy Declarations Ethics approval and consent to participate The study received approval from the Research Ethics Committee of the San Juan University Hospital in Alicante (CE 24/050). Consent of publication Not applicable. Availability of data and materials The authors verify that the data supporting the conclusions of this study can be found in the article and its supplementary materials. Competing interests The authors declared no potencial conflicts of interest with respect to the research, authorship, and/or publication of this article. Funding The study was funding by the Fundación Española para la Ciencia y la Tecnología – Ministerio de Ciencia, Innovación y Universidades, Spain (reference FCT-22-17999 ) . VHG’s laboratory receives finantial support from FIS 23/00997 funded by “Instituto de Salud Carlos III” and co-funded by the European Union, by the European Union’s Horizon 2020 research and innovation programme under grant agreement N°825575 (RiTA). From “CIBEREHD” funded by “Instituto de Salud Carlos III”. From the “Commissioner for Universities and Research from the Department of Economy and Knowledge” of the “Generalitat de Catalunya” (AGAUR SGR2021 01115). Author´s contributions Concept and design: JJM, VPJ, MGM, VMP Acquisition of fata: VMP, VPJ, VRN, IGM, JCM, LOS Analysis or interpretation of data: VMP, CNM, MGM, IGM, CSM, VPJ Critical review of manuscript for importance intellectual concept: VPJ, JJM, MGM, ACV, VHG, LOS, JCM, SGG, ACV Administrative technical or material support: ACV, VHG Acknowledgement The authors would like to express their sincere thanks to the following associations: Sense Barreres, Asociación Nacional del Síndrome de Ehlers Danlos, Hiperlaxitud y colagenopatias (ANSEDH), Objetivo Diagnóstico, Asociación Española de Enfermos Vasculares Hepáticos, Asociación Lojeña de Atención a Necesidades Específicas (ALODANE), Asociación Síndrome Phelan-McDermid, Asociación 22q11. 2 Andalucía, Asociación de Enfermos Neuromusculares de Granada (ASEMGRA), Asociación Española de Síndromes Compresivos Vasculares (AESCOV), Asociación Española de Síndrome de Rett (AESR), Asociación de Síndrome de Apert y otras craneosinostosis (APERTCRAS), Asociación Corro por Marina y Samuel, Asociación española del síndrome de Wolf hirschhorn, and Asociación de enfermedades raras y discapacidad PANIDE for their valuable collaboration and support during the development of this work. References Harrison R, Walton M, Manias E, Smith-Merry J, Kelly P, Iedema R, Robinson L. The missing evidence: a systematic review of patients' experiences of adverse events in health care. Int J Qual Health Care. 2015 Dec;27(6):424-42. doi: 10.1093/intqhc/mzv075. Epub 2015 Sep 29. PMID: 26424702. World Health Organization (WHO). Global Patient Safety Action Plan 2021-2030: Towards eliminating avoidable harm in health care [Internet]. Geneva: World Health Organization; 2021 Aug 3. Available from: https://www.who.int/publications/i/item/9789240032705 Serrano F, Clemente J, Ibañez MC, Lostal E, Sanz F, Gomez D, et al. Report of the Citizen Science Observatory in Spain [Internet]. Zenodo; 2016. Available from: http://dx.doi.org/10.5281/zenodo.225678 Bonter DN, Cooper CB. Data validation in citizen science: a case study from Project FeederWatch. Front Ecol Environ. 2012;10(6):305-7. doi: 10.1890/110273. LivesProject – Quality of patients living with vascular LIVEr diseaseS. Developing research on the social impact of rare diseases [Internet]. Livesproject.eu. [cited 2024 Apr 4]. Available from: https://livesproject.eu/ Obstetric coevolution [Internet]. Obstetriccoevolution.eu. [cited 2024 Apr 4]. Available from: https://www.obstetriccoevolution.eu/en/ Hospital de la Santa Creu i Sant Pau. Rare diseases [Internet]. Barcelona: Hospital de la Santa Creu i Sant Pau; 2024 [cited 2024 Oct 23]. Available from: https://www.santpau.cat/es/web/public/malalties-minoritaries Faccio E, Bottecchia M, Rocelli M. Caring for people with rare diseases: A systematic review of the challenges of, and strategies for dealing with, COVID-19. Int J Environ Res Public Health [Internet]. 2023;20(19):6863. Available from: http://dx.doi.org/10.3390/ijerph20196863 Marks L, Laird Y, Trevena H, Smith BJ, Rowbotham S. A scoping review of citizen science approaches in chronic disease prevention. Front Public Health [Internet]. 2022;10. Available from: http://dx.doi.org/10.3389/fpubh.2022.743348 Mira JJ, Pérez-Jover V, Lorenzo S, Aranaz J, Vitaller J. Qualitative research is a valid alternative too. Aten Primaria 2004;34(4):161-169. https://doi.org/10.1016/S0212-6567(04)78902-7 Cheng A, Eppich W, Epps C, et al. Embracing informed learner self-assessment during debriefing: the art of plus-delta. Adv Simul. 2021;6:22. doi: 10.1186/s41077-021-00173-1. Den Broeder L, Devilee J, Van Oers H, Schuit AJ, Wagemakers A. Citizen Science for public health. Health Promot Int. 2018;33(3):505-14. doi: 10.1093/heapro/daw086. English PB, Richardson MJ, Garzón-Galvis C. From crowdsourcing to extreme citizen science: participatory research for environmental health. Annu Rev Public Health. 2018;39:335-50. doi: 10.1146/annurev-publhealth-040617-013702. Kavanagh KT, Cormier LE. Viewpoint: Patient safety in primary care – patients are not just recipients but a critical component in its achievement. Medicine (Baltimore). 2023;102(37). doi: 10.1097/MD.0000000000035095. Howick J, Bennett-Weston A, Solomon J, et al. How does communication affect patient safety? Protocol for a systematic review and logic model. BMJ Open. 2024;14. doi: 10.1136/bmjopen-2024-085312. Shahrestanaki SK, Rafii F, Najafi Ghezeljeh T, Farahani MA, Majdabadi Kohne ZA. Patient safety in home health care: a grounded theory study. BMC Health Serv Res. 2023;23(1):467. doi: 10.1186/s12913-023-09458-9. Institute of Medicine (US) Committee on Quality of Health Care in America, Kohn LT, Corrigan JM, Donaldson MS, editors. To Err is Human: Building a Safer Health System. Washington (DC): National Academies Press (US); 2000. Available from: https://www.ncbi.nlm.nih.gov/books/NBK225188 Subramaniam TS, Valuyeetham PS, Kamaru Ambu V. Empathy amongst doctors: an observational study. Med J Malaysia. 2023;78(3):344-349. Hannawa AF, Frankel RM. It matters what I think, not what you say: scientific evidence for a medical error disclosure competence (MEDC) model. J Patient Saf. 2021;17(8). doi: 10.1097/PTS.0000000000000524. Walkowiak D, Domaradzki J. Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study. Orphanet J Rare Dis. 2021;16(1):400. doi: 10.1186/s13023-021-02023-9. Ramalle-Gómara E, Domínguez-Garrido E, Gómez-Eguílaz M, Marzo-Sola ME, Ramón-Trapero JL, Gil-de-Gómez J. Education and information needs for physicians about rare diseases in Spain. Orphanet J Rare Dis. 2020;15(1):18. doi: 10.1186/s13023-019-1285-0. Legrand MA, Bagouet F, Merle B, Gensburger D, Chapurlat R. Value of rare disease referral centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone. Eur J Med Genet. 2023;66(11):104849. doi: 10.1016/j.ejmg.2023.104849. Yuan CT, Dy SM, Yuanhong Lai A, et al. Challenges and strategies for patient safety in primary care: a qualitative study. Am J Med Qual. 2022;37(5):379-87. doi: 10.1097/JMQ.0000000000000054. Gong Y, Kang H, Wu X, Hua L. Enhancing patient safety event reporting: a systematic review of system design features. Appl Clin Inform. 2017;8(3):893-909. doi: 10.4338/ACI-2016-02-R-0023. Velvin G, Hartman T, Bathen T. Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers’ experiences and perceptions. Orphanet J Rare Dis. 2022;17:212. doi: 10.1186/s13023-022-02357-y. 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It is the responsibility of healthcare institutions and their professional teams, but also of the patients themselves\u003ca class=\"FNLink\" href=\"#Fn1\" id=\"#FNLinkFn1\"\u003e\u003c/a\u003e.\u003c/p\u003e \u003cp\u003eThe new patient safety strategy from the World Health Organization (WHO) for the period 2021\u0026ndash;2030 places special emphasis on the involvement of patients and their families in patient safety. Based on the concept of co-production, patients are expected to play an active role as key agents in creating safer environments, both within healthcare institutions and at home. This approach seeks to empower patients and learn from their experiences to better understand the nature of harm and enhance the safety of healthcare service\u003ca class=\"FNLink\" href=\"#Fn2\" id=\"#FNLinkFn2\"\u003e\u003c/a\u003e.\u003c/p\u003e \u003cp\u003eIn parallel, the European Commission is promoting the principles of Citizen Science (CS), as outlined in the Digital4Science strategy\u003ca class=\"FNLink\" href=\"#Fn3\" id=\"#FNLinkFn3\"\u003e\u003c/a\u003e. The first applications of CS involved individuals interested in ornithology to analyze bird patterns\u003ca class=\"FNLink\" href=\"#Fn4\" id=\"#FNLinkFn4\"\u003e\u003c/a\u003e. Sharing resources (such as home computers\u0026rsquo; processing power, in-car navigators, or telescopes) has become a classic example of studies where geographically dispersed citizens voluntarily contribute to data collection and interpretation. In healthcare, there are also examples of this approach, such as the LIVES project\u003ca class=\"FNLink\" href=\"#Fn5\" id=\"#FNLinkFn5\"\u003e\u003c/a\u003e and Obstetric Coevolution\u003ca class=\"FNLink\" href=\"#Fn6\" id=\"#FNLinkFn6\"\u003e\u003c/a\u003e.\u003c/p\u003e \u003cp\u003eRare diseases are those with a prevalence of fewer than 5 cases per 10,000 people\u003ca class=\"FNLink\" href=\"#Fn7\" id=\"#FNLinkFn7\"\u003e\u003c/a\u003e. Many begin at an early age, though due to the high mortality associated with many of these conditions, their prevalence is higher among adults than in pediatric populations. Around 8,000 different types of these low-prevalence diseases (mostly genetic) have been described, affecting nearly every organ. Although the total number of affected individuals is relatively large, the number of people with any specific rare disease is low, which limits both knowledge and research on each disease\u003ca class=\"FNLink\" href=\"#Fn8\" id=\"#FNLinkFn8\"\u003e\u003c/a\u003e.\u003c/p\u003e \u003cp\u003eCS can be particularly useful in promoting patient safety for rare diseases, for example, by gathering contributions, data, and insights from patients, which, collectively, can help design safer environments\u003ca class=\"FNLink\" href=\"#Fn9\" id=\"#FNLinkFn9\"\u003e\u003c/a\u003e.\u003c/p\u003e \u003cp\u003eThe objective of this study was to understand perceptions of critical safety elements, and the facilitators and barriers to patient involvement in patient safety, in the context of rare diseases.\u003c/p\u003e"},{"header":"Method","content":"\u003cp\u003eThis study was a qualitative research study\u003ca class=\"FNLink\" href=\"#Fn10\" id=\"#FNLinkFn10\"\u003e\u003c/a\u003e conducted in two phases: the first phase involved focus groups to gain a collective and broad perspective, and the second phase consisted of semi-structured interviews to obtain more specific insights on certain topics that emerged, with the goal of encouraging caregivers to take on the role of researchers. The study received approval from the Research Ethics Committee of the San Juan University Hospital in Alicante (CE 24/050).\u003c/p\u003e \u003cp\u003eThe focus groups were conducted in Granada, Barcelona, and Elche, while the semi-structured interviews were held either in person or online with participants from the Comunidad Valenciana, Murcia, Islas Baleares, and Pa\u0026iacute;s Vasco.\u003c/p\u003e \u003cp\u003ePhase One: Focus Groups\u003c/p\u003e \u003cp\u003eParticipants: Three focus groups were conducted, including 12 patients diagnosed with a rare disease and 18 caregivers of such patients (particularly for those who were minors or had significant communication challenges).\u003c/p\u003e \u003cp\u003eInclusion and Exclusion Criteria: Participants included individuals of legal age for healthcare decisions, residing in Spain, with a primary diagnosis of a rare disease or, in some cases, with a suspected diagnosis of a rare disease. Informal caregivers of patients unable to participate in qualitative methods were also included.\u003c/p\u003e \u003cp\u003eRecruitment: Snowball sampling was employed through associations of patients with rare diseases residing in Spain.\u003c/p\u003e \u003cp\u003eScript Development: The question script for the sessions was developed based on an initial literature review, consultation with the project\u0026rsquo;s research team, and input from experts in citizen science and rare diseases (see Supplementary Material 1).\u003c/p\u003e \u003cp\u003eProcedure: Members of the research team (VHG and JCM), healthcare professionals who regularly worked with patients with these conditions, initiated contact with the leadership teams of the patient associations to recruit participants. The patient associations invited patients and caregivers who met the inclusion criteria to participate, forming groups of 8 to 14 people with a balanced mix of genders, caregivers, and patients. Once participants agreed to take part, the associations put them in contact with the research team. Patients and caregivers were invited to accessible, well-located, spacious rooms with ideal conditions for sound and mobility, within healthcare facilities familiar to the patients. In the case of the Elche group, a researcher (VPJ) contacted local patient associations via email, and the meeting was held at the facilities of Miguel Hern\u0026aacute;ndez University. The focus groups were moderated by a member of the research team (VPJ), with the support of VMP and VR for notetaking.\u003c/p\u003e \u003cp\u003ePhase Two: Interviews\u003c/p\u003e \u003cp\u003eThrough Peer Researchers (PRs), a total of 4 individuals with rare diseases and 5 caregivers of patients were interviewed. All participants gave informed consent to take part in the study. The interviews were transcribed and anonymized.\u003c/p\u003e \u003cp\u003eThe PR role was introduced as a person involved in the research process due to their membership in or direct experience with the group or community being studied\u0026mdash;in this case, as family caregivers of individuals with rare diseases. These non-professional researchers, in line with the citizen science approach, provided a unique and valuable perspective, as they share characteristics, experiences, language, and life contexts with the study participants.\u003c/p\u003e \u003cp\u003e As part of implementing the PR role, two researchers (VPJ, MGM) provided training to the PRs on research ethics and guidelines for conducting semi-structured interviews and data analysis. This training consisted of two in-person sessions, each lasting one hour. After training, the PR practiced conducting interviews and using the data recording tool on the same online platform that would be used for patient interviews, allowing them to build the skills necessary to perform the task independently and effectively.\u003c/p\u003e \u003cp\u003eThree debriefings were conducted using the PULS-DELTA approach\u003ca class=\"FNLink\" href=\"#Fn11\" id=\"#FNLinkFn11\"\u003e\u003c/a\u003e a structured review and reflection process on their personal experience, feelings, and emotions while conducting interviews. This approach aimed to reinforce learning and improve both the PR\u0026rsquo;s future interviews and personal experience. These debriefings took place after the first interview, halfway through the total number of interviews planned, and after the final interview.\u003c/p\u003e \u003cp\u003eFor the semi-structured interviews, a script was developed in collaboration with the PRs (see Supplementary Material 2), with one PR conducting the interviews and both participating in the subsequent analysis. The interview scripts shared a common structure, focused on three core categories: critical elements for patient safety, barriers, and facilitators for patient engagement in safety. In the case of the semi-structured interviews, these categories were operationalized to make the interviews simpler, more specific, and supported with concrete examples.\u003c/p\u003e \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eData Analysis\u003c/h2\u003e \u003cp\u003eThe main ideas expressed in the focus groups and interviews were coded as \u003cem\u003everbatims\u003c/em\u003e\u0026mdash;precise transcriptions or direct quotations of what participants said. The PRs and three members of the research team (VPJ, MGM, and VMP) worked together to create subcategories for classifying these verbatims as critical elements, barriers, or facilitators of patient safety. This categorization process took place in a two-hour, in-person session.\u003c/p\u003e \u003cp\u003eFollowing this, the software ATLAS.ti was used to comprehensively analyze the verbatims from both the focus groups and interviews. This step ensured that the identified subcategories were consistent and aligned with the project\u0026rsquo;s objectives, with ongoing support and validation from the PRs throughout the process.\u003c/p\u003e \u003c/div\u003e"},{"header":"Results","content":"\u003cp\u003e\u003cem\u003eFocus Gorups\u0026nbsp;\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003eThe focus group sessions were held on February 20, February 28, and May 17, 2024, each lasting an average of two hours (Granada: 2 hours and 15 minutes; Barcelona: 1 hour and 42 minutes; Elche: 2 hours). A total of 12 patients and 18 family members participated, comprising 19 women and 11 men. The average age of individuals with present rare diseases was 30 years (s.d. 20.39).\u003c/p\u003e\n\u003cp\u003eParticipants had a range of diagnoses, including Hypermobile Ehlers-Danlos Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome, Congenital Hyperekplexia, Spastic Paraparesis Type 52, Microcephaly-Hypoplasia Syndrome, 22q11.2 Deletion Syndrome, Portosinusoidal Vascular Disorder or Portal Cavernomatosis (Non-Cirrhotic Portal Thrombosis), Coloboma with Autism, Hereditary Hepatic Paraplegia, Ehlers-Danlos Syndrome (EDS), Sanfilippo Syndrome Type 3C, possible Mitochondrial Demyelinating Sensory Motor Polyneuropathy with Parkinson\u0026rsquo;s Disease and Dementia, and chronic pain. However, some participants had not received a confirmed diagnosis but had a suspected rare disease as their primary diagnosis.\u003c/p\u003e\n\u003cp\u003e\u003cem\u003eSemi-Structured Interviews\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003eThe PR conducted 9 semi-structured interviews, either in person (n=1) or via the Zoom application (n=1) (Zoom Video Communications Inc., Version 5.14.0, 2023), between May 29 and June 14, 2024. Each interview lasted approximately one and a half hours (Interviews 1 and 2: 1 hour; Interview 3: 1 hour 10 minutes; Interviews 4, 7 and 8: 1.5 hours; Interview 5: 1 hour 40 minutes; Interviews 6 and 9: 40 minutes).\u003c/p\u003e\n\u003cp\u003eA total of 8 women and 1 man participated. Among them, 5 were caregivers (mothers) of children and adolescents with rare diseases, and 4 were individuals diagnosed with rare diseases. The conditions reported by these participants included Vascular or Hypomobile EDS, Antiphospholipid Syndrome (APS), Fibromyalgia, Loeys-Dietz Syndrome (LDS) with EDS-like symptoms, Spinal Muscular Atrophy (SMA) Type 2, and cases without an established diagnosis.\u003c/p\u003e\n\u003cp\u003eThe \u003cem\u003edebriefing\u003c/em\u003e sessions between the research team and the PR who conducted the interviews were held on May 29, June 5, and June 17, 2024, via Zoom, each lasting an hour and a half. In the first \u003cem\u003edebriefing\u003c/em\u003e, after the initial interview, the PR shared her experience as an interviewer and suggested restructuring the interview script to better align with her interviewing style. Throughout these debriefings, she reported that the biggest challenge was maintaining emotional distance during the interviews, as many participants\u0026rsquo; experiences mirrored her own.\u003c/p\u003e\n\u003cp\u003e\u003cem\u003eData Analysis and Category Generation\u003c/em\u003e\u003c/p\u003e\n\u003cp\u003eThe 378 verbatims identified in the focus groups and interviews were grouped into three major categories: critical elements for patient safety, formed by the subcategories of coordination, communication, accessibility, medication management, and health literacy; barriers to patient involvement in their own safety, subcategorized into lack of social skills and expressions of empathy from healthcare professionals, delays in diagnosis, structures that hinder care, lack of therapeutic treatments, inequities, and differences in follow-up depending on life stage; and facilitators of patient involvement in patient safety, divided into the subcategories of social support, utility of the reporting system, support from social and healthcare spheres, accessible and adapted language, and sources of information (Table 1).\u003c/p\u003e\n\u003cp\u003eTable 1. Operationalisation of the subcategories of analysis.\u0026nbsp;\u003c/p\u003e\n\u003ctable border=\"1\" cellspacing=\"0\" cellpadding=\"0\" width=\"917\"\u003e\n \u003cthead\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 123px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eCategory\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eSubcategory\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eOperationalisation\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/thead\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"5\" valign=\"top\" style=\"width: 123px;\"\u003e\n \u003cp\u003eCritical elements for patient safety\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eCoordination\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eThe process by which the different actors, levels and systems of health care are aligned and synchronised to ensure continuity and quality of patient care.\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eCommunication\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eAccurate and timely information exchange between health professionals, patients and caregivers\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eAccessibility\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eAbility of patients to obtain in a timely and barrier-free manner the services, treatments and resources necessary to ensure safety\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eMedication management\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eA set of systematic actions that includes the selection, prescribing, dispensing, administration, monitoring, and adjustment of medicines, as well as patient education, to ensure that medicines are used effectively and safely, minimising errors and optimising health outcomes\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eHealth literacy\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eTraining received by health professionals, patients and their families on rare diseases\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"6\" valign=\"top\" style=\"width: 123px;\"\u003e\n \u003cp\u003eBarriers to patient involvement in patient safety\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eLack of social skills and empathy from health professionals\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eAusencia o inadecuaci\u0026oacute;n de comportamientos como la escucha activa, la comunicaci\u0026oacute;n clara, el reconocimiento de las emociones del paciente y la respuesta adecuada a las necesidades emocionales, que afectan a la calidad de la interacci\u0026oacute;n y dan lugar a una experiencia sanitaria menos satisfactoria y fiable\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eDelay in diagnosis\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eUnwarranted delay in identifying a disease or condition, which occurs when the clinically appropriate time to perform tests, interpret results, or refer the patient, potentially affecting prognosis or treatment, is exceeded\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eStructures that hinder attention\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eOrganisational, administrative or physical barriers, such as limited resources, complex bureaucratic processes, inefficient staff deployment, and long waiting times, which delay or limit access to timely and quality health services, directly affecting patient satisfaction and outcomes\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eLack of therapeutic treatments\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eAbsence or insufficiency of appropriate and available treatment options to address specific health conditions, limiting patients\u0026apos; ability to receive the necessary care and optimise their recovery\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eLack of equity\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eInequality in access to health resources, services and opportunities, where different population groups, whether due to socio-economic, geographic, racial or other conditions, do not receive the same quality of care or health outcomes\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eDifferences in follow-up according to life stage\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eVariations in the care and monitoring of people\u0026apos;s health according to their age and development, with each stage (childhood, adolescence, adulthood and old age) presenting different needs, risks and priorities, requiring specific approaches to health assessment and management to ensure appropriate and effective care\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"5\" valign=\"top\" style=\"width: 123px;\"\u003e\n \u003cp\u003eEnablers for patient involvement in patient safety\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eSocial support\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eA network of interpersonal relationships and resources that provide emotional, informational, instrumental and companionship assistance to individuals, helping them to cope with difficult situations and improve their overall well-being. This support may come from family, friends, co-workers, community groups or health professionals\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eUsefulness of the notification system\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eCapacity for an organised mechanism to record, analyse and report adverse events and errors in medical care, facilitating the identification of trends, continuous process improvement, and implementation of prevention strategies, resulting in safer and higher quality care for patients\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eSocial and health support\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eA combination of resources and services that integrate social welfare and health care, providing individuals and communities with the necessary support to address their health needs, improve their quality of life and promote social inclusion.\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eUnderstandable and adapted language\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eCommunicate medical information and procedures in a way that patients can easily understand, facilitating their active participation in their healthcare and improving the effectiveness of communication between professionals and patients\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 170px;\"\u003e\n \u003cp\u003eSources of information\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 624px;\"\u003e\n \u003cp\u003eSpecific resources or means by which patients or their caregivers obtain information to manage their health condition\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n\u003c/table\u003e\n\u003cp\u003eTable 2 lists these subcategories and specifies the relevance of each of them with respect to the category to which they belong and according to the total number of citations extracted.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eTable 2. Relevance of each category by number of ideas reported by participants\u003c/p\u003e\n\u003cdiv align=\"\"\u003e\n \u003ctable border=\"1\" cellspacing=\"0\" cellpadding=\"0\" width=\"597\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 113px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eCategories\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eSubcategories\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eNo. of verbatims\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eRelevance of the subcategory within the category (%)\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eRelevance of the subcategory with respect to the total (%)\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"5\" valign=\"top\" style=\"width: 113px;\"\u003e\n \u003cp\u003eCritical elements for patient safety\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eCoordination\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e72\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e46.8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e19\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eCommunication\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e39\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e25.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e10.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eAccessibility\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e20\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e5.3\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eMedication management\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e16\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e10.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e4.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eHealth literacy\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e4.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e1.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 113px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eSubcategory Total\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e154\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e40,7\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"6\" valign=\"top\" style=\"width: 113px;\"\u003e\n \u003cp\u003eBarriers to patient involvement in patient safety\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eLack of social skills and lack of empathy from health professionals\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e47\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e35.9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e12.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eDelay in diagnosis\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e37\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e28.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e9.8\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eStructures that hinder attention\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e21\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e16\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e5.5\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eLack of therapeutic treatments\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e16\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e12.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e4.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eLack of equity\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e4.6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e1.6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eDifferences in follow-up according to life stage\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e3.1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e1.1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 113px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eSubcategory Total\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e131\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e34.6\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd rowspan=\"5\" valign=\"top\" style=\"width: 113px;\"\u003e\n \u003cp\u003eEnablers for patient involvement in patient safety\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eSocial support\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e55\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e59.1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e14.6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eUsefulness of the notification system\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e14\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e15.1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e3.7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eHealth and social support\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e12.9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e3.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eUnderstandable and adapted language\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e8.6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e2.1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003eSources of information\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e4.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e1.1\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 113px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eSubcategory Total\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e93\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e24.7\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd valign=\"top\" style=\"width: 113px;\"\u003e\n \u003cp\u003e\u003cstrong\u003eTotal\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 168px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 73px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e378\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd valign=\"top\" style=\"width: 122px;\"\u003e\n \u003cp\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003e\u003cu\u003eCritical elements for patient safety\u003c/u\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCoordination\u0026nbsp;\u003c/strong\u003ewas considered a vital element for patient safety by the participants, as there are numerous drawbacks in coordination, both between autonomous communities and between hospitals within the same autonomous community, and even between health professionals in the same centre.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eIn addition, participants highlighted the role of the reference professional in the coordination of care for people with minority diseases, as well as the importance of coordination in the transition from paediatric to adult care. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;Yes, the rare disease depends on what postcode you have. For everything.\u0026rsquo; Father of deceased male. Elche Focus Group.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;Yes, you can look at the history, but here they have it more complete and they know more\u0026rsquo;. 58-year-old female patient. Focus group Barcelona.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;The traumatologist sometimes doesn\u0026apos;t know what another doctor is prescribing\u0026rsquo;. Mother of female patient. Interview.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eIn relation to \u003cstrong\u003ecommunication\u003c/strong\u003e, participants highlighted how miscommunication could lead to adverse events. In addition, they pointed out the need for caregivers to have information to ensure understanding of care and treatments once at home, and the resolution of doubts as a way to avoid risks and ensure compliance with the treatment plan. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;The advantage that we have in theory is that they give you a phone number and if you call them and anything you need, they will attend to you immediately and sort it out. You don\u0026apos;t have to wait on a waiting list, and the peace of mind this gives you is tremendous. I go outside and take the nurses\u0026lsquo; phone number with me\u0026rsquo;. Female patient, 56 years old. Focus group Barcelona.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;With the people who are in specialities, I do have a relationship with them, but with the general practitioner perhaps not so much\u0026rsquo;. Mother of 14-year-old female patient. Interview. \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp;\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eAnother element identified as critical to safety was \u003cstrong\u003eaccessibility\u003c/strong\u003e, including access to medication in a timely and appropriate manner, access to genetic testing to facilitate accurate diagnoses and personalised treatments, optimising clinical decision-making and avoiding risks associated with lack of access. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;You have to know from the social security that for what we have it doesn\u0026apos;t come in, it only comes in when you have heart problems... I think it\u0026apos;s an injustice\u0026rsquo;. Female patient, 73 years old. Focus group Granada.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;The first time to go to genetics, the first time I moved it myself, that is to say, no neurologist referred me\u0026rsquo; Mother of 16-year-old male patient. Interview. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003eOne element identified as highly critical for patient safety by participants was the \u003cstrong\u003ehandling of medication\u003c/strong\u003e, whether in pre-registration, dispensing, administration or monitoring, which can cause harm to the patient both in healthcare facilities and at home. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;When we arrived, specks had come out from the change, from the change of transport, from the trip. Even if you take it from the change from this, it was all speckled. [...] She couldn\u0026apos;t take it\u0026rsquo;. Mother of 15-year-old male patient. Focus group Elche.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;I even have to calculate myself, because I give him the medication in grams and the doctors prescribe it in millimetres. So I have to calculate it myself\u0026rsquo;. Mother of 19-year-old female patient. Focus group Granada. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003eSimilarly, \u003cstrong\u003ehealth literacy\u003c/strong\u003e or education of patients, caregivers and even health professionals in relation to minority diseases contributes to the reduction of diagnostic errors and complications, improving patient safety and quality of care, and was therefore identified by patients as a critical element for safety. \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp;\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;I am in a small town in Asturias, where we have a doctor 24 hours a day. You call him and tell him about this pathology and, perhaps, he might be shocked because they are very rare diseases\u0026rsquo;. Female patient, 56 years old. Focus group Barcelona.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;I have a way of communicating that doesn\u0026apos;t seem to suit everyone, but there are thousands like me. They don\u0026apos;t cause these types of problems: insecurity... I have that privilege, at least I understand what they are talking about and I also try to make it easier for them because I explain things in detail\u0026rsquo;. Female patient, 33 years old. Focus group Granada. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cu\u003eBarriers to patient involvement in patient safety\u003c/u\u003e\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eOne of the main barriers identified by participants was a \u003cstrong\u003elack of\u003c/strong\u003e \u003cstrong\u003esocial skills and empathy on the part of health professionals\u003c/strong\u003e, as this can lead to mistrust and a sense of disconnection between patient and professional. When patients or caregivers do not feel understood or valued, they are less likely to participate in their care, share relevant information or follow treatment recommendations, which can compromise their safety and well-being.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;And what is this? Because of course, it tells you, it doesn\u0026apos;t tell you? Are you asking about something? Yes, that his son is going to die at the age of twelve. And that\u0026apos;s it. Father of deceased male. Focus group Elche.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;A bit of empathy, a bit of sensitivity. I think that would be fundamental for the education of our professionals\u0026rsquo;. Mother of 7-year-old male patient. Focus group Granada.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;It seems that I am having a bit of luck now with the people who treat him [...] wherever he goes I have to say that they are marvellous, they are very tactful, they treat him well, I am delighted\u0026rsquo;. Mother of 16-year-old male patient. Interview. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eDelay in diagnosis\u003c/strong\u003e was also identified as a barrier, as it is caused by several factors and can lead to deterioration of the health condition, unnecessary complications and decreased effectiveness of treatments. In addition, prolonged uncertainty about health can generate anxiety and distrust in the health system, limiting patients\u0026apos; ability to actively participate in decisions about their care, thus compromising their safety and well-being. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;It took us about nine months to get a diagnosis. It took us about nine months to get a diagnosis. Mother of 19-year-old female patient. Focus group Elche.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;After 5 or 6 years I was diagnosed... I went round all the hospitals, all the doctors and there was nothing and thanks to the fact that they have now become involved we have made a lot of progress\u0026rsquo;. Father of deceased male. Focus group Elche. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003eAnother major barrier to patients\u0026apos; involvement in their safety was the \u003cstrong\u003estructures that hinder care\u003c/strong\u003e. The lack of such structures can lead to limited access to relevant information and support resources and can create environments where patients do not feel safe and empowered to actively participate in their care.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;There are a lot of things, and nobody knows about it, it\u0026apos;s true\u0026rsquo; (referring to aid). Mother of 15-year-old male patient. Focus group Barcelona.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;However, the card has a long waiting list, and they should at least give a receipt\u0026rsquo;. Father of 11-year-old male patient. Focus group Granada.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;We have problems when entering a consultation room, because the door is not wide enough because of the chair. Because of the chair, they have to look for a door, there is no porter to help you\u0026rsquo;. Mother of 15-year-old male patient. Focus group Granada. \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp;\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eIn addition, the \u003cstrong\u003elack of therapeutic treatments\u003c/strong\u003e (such as rehabilitation, telemedicine or psychological support) was identified as a barrier in that patients are limited in their ability to actively participate in their recovery and health management, which can lead to a worsening of their conditions and increased vulnerability to errors in medical care. \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp;\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;Rehabilitation is a privilege. Female patient, 33 years old. Focus group Elche.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;You don\u0026apos;t have the right to have continuous rehabilitation for a certain period of time, so what happens? So, what happens? You do rehabilitation for 6 months and you get better and then 6 months later you go back\u0026rsquo;. Mother of 16-year-old male patient. Interviews. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003eFinally, participants highlighted \u003cstrong\u003edifferences in follow-up by life stage\u003c/strong\u003e and \u003cstrong\u003eequity\u003c/strong\u003e as barriers, as patients at different life stages may receive inadequate follow-up or may not be fully informed about their health conditions, and equity promotes an environment in which everyone feels valued and empowered to be involved in decisions about their well-being, which in turn contributes to improving patient safety and the effectiveness of care.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;But we really had a very early diagnosis, because it is normal for it to be diagnosed from adolescence, the first stage of adulthood, which is when the most serious complications occur\u0026rsquo;. Mother of a 5-year-old male patient. Interviews.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;I spent about five months going to the place to get him treated because there is no paediatrician there and this is a disease for adults\u0026rsquo;. 53-year-old male patient. Focus group Barcelona.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;We are in a society that in a certain way is not prepared for us to be there\u0026rsquo;. Mother of 16-year-old male patient. Interviews.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;It seems unbelievable that in the 21st century, depending on the people who attend you, if you go with your husband, you get more cases and if you go now, you get less. This is hard, but it is real\u0026rsquo;. Female patient, 49 years old. Interviews. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cu\u003eEnablers of patient involvement in patient safety\u003c/u\u003e\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eAmong the facilitators identified by the participants were \u003cstrong\u003esocial support\u003c/strong\u003e as a facilitator of patients\u0026apos; involvement in their safety, including aspects such as support from patient associations, information exchange between patients, support for caregivers, involvement/interest of families and the environment, as well as support for the person with the disease. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;That\u0026apos;s why there are also the associations and so on, which also pass on a lot of information\u0026rsquo;. Father of deceased male patient. Focus group Elche.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;It would be very interesting if there were disease associations in the hospital\u0026rsquo;. 55-year-old female patient. Interview. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003eThey also highlighted the \u003cstrong\u003eusefulness of\u003c/strong\u003e \u003cstrong\u003ereporting systems\u003c/strong\u003e, designed to encourage the exchange of information between patients and caregivers in order to prevent possible medication or care errors that may occur at home. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;I think that\u0026apos;s very good. As long as it is not medical advice\u0026rsquo;. Mother of 5-year-old male patient. Focus group Elche.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;How to apply for the preferential card, how to do when you go out of the community to a private doctor, to keep that and have part of the money subsidised, all of that is very good\u0026rsquo;. Mother of 15-year-old male patient. Focus group Granada. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003eOn the other hand, the \u003cstrong\u003esupport from the social and health fields\u003c/strong\u003e was highlighted as a facilitator in terms of the need to create minority disease units as a specialised area dedicated to the comprehensive care of these patients. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;I have been told that if we present our illness to the tax authorities, we get a tax reduction... How do you have to go to the medical tribunal? With all your medical records? 53-year-old male patient. Focus group Barcelona.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;Work with a disability, how to find a job, where to go...\u0026rsquo;. Mother of 29-year-old male patient. Focus group Barcelona. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003eFinally, \u003cstrong\u003einformation sources\u003c/strong\u003e facilitate the involvement of patients in their safety, as they provide the knowledge necessary for informed decision-making, increase their confidence and participation in the management of their health, as well as the use of \u003cstrong\u003eadapted and understandable language\u003c/strong\u003e by professionals. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;I think that information between parents is very useful, social networks, WhatsApp groups\u0026rsquo;. Mother of 20-year-old female patient. Focus group Granada.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;In other words, when they have told me something I didn\u0026apos;t understand, they have drawn me pictures\u0026rsquo;. Mother of 12-year-old female patient. Interview.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u0026lsquo;In a language that is perhaps convoluted, or unclear, or monosyllabic\u0026rsquo;. Mother of 15-year-old male patient. Focus group Elche.\u0026nbsp;\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eThe aim of this study was to find out the perception of safety-critical elements and facilitators and barriers to patient involvement in patient safety in the case of minority diseases. The novelty of the study lies in the fact that it combines a citizen science approach and a strategy to learn about and involve minority disease patients in patient safety\u003csup\u003e9\u003c/sup\u003e. This study can be classified as co-created as the \u003cem\u003ePeer Researchers\u003c/em\u003e participated in the design of the research questions, conducted the interviews, collected data and participated in the analysis and interpretation of results\u003ca class=\"FNLink\" href=\"#Fn12\" id=\"#FNLinkFn12\"\u003e\u003c/a\u003e\u003csup\u003e,\u003c/sup\u003e\u003ca class=\"FNLink\" href=\"#Fn13\" id=\"#FNLinkFn13\"\u003e\u003c/a\u003e.\u003c/p\u003e \u003cp\u003eIn line with patient safety studies\u003ca class=\"FNLink\" href=\"#Fn14\" id=\"#FNLinkFn14\"\u003e\u003c/a\u003e, participants pointed to errors in communication and coordination between professionals and units, which confuse patients and carers, as risk factors\u003ca class=\"FNLink\" href=\"#Fn15\" id=\"#FNLinkFn15\"\u003e\u003c/a\u003e. They also highlighted the difficulty of access to specialised units, medication management and home treatment as common causes of safety incidents\u003ca class=\"FNLink\" href=\"#Fn16\" id=\"#FNLinkFn16\"\u003e\u003c/a\u003e\u003csup\u003e,\u003c/sup\u003e\u003ca class=\"FNLink\" href=\"#Fn17\" id=\"#FNLinkFn17\"\u003e\u003c/a\u003e. Among the barriers, they mentioned the lack of empathy\u003ca class=\"FNLink\" href=\"#Fn18\" id=\"#FNLinkFn18\"\u003e\u003c/a\u003e, inadequate communication styles\u003ca class=\"FNLink\" href=\"#Fn19\" id=\"#FNLinkFn19\"\u003e\u003c/a\u003e and the absence of organised units for minority diseases, associated with the insecurity of professionals in dealing with these pathologies\u003ca class=\"FNLink\" href=\"#Fn20\" id=\"#FNLinkFn20\"\u003e\u003c/a\u003e\u003csup\u003e,\u003c/sup\u003e\u003ca class=\"FNLink\" href=\"#Fn21\" id=\"#FNLinkFn21\"\u003e\u003c/a\u003e. In addition, delays in diagnosis and treatment impact on equity, influenced by geographical location and lack of specific structures\u003ca class=\"FNLink\" href=\"#Fn22\" id=\"#FNLinkFn22\"\u003e\u003c/a\u003e.\u003c/p\u003e \u003cp\u003eSocial support and reporting systems were seen as protective factors: the former fosters involvement in safety, and the latter prevents incidents by drawing on the experiences of professionals and patients\u003ca class=\"FNLink\" href=\"#Fn23\" id=\"#FNLinkFn23\"\u003e\u003c/a\u003e. However, the impact of unnecessary treatments, undiagnosed drugs and the number of tests performed were not addressed, suggesting acceptance of these practices in the diagnostic process.\u003c/p\u003e \u003cdiv id=\"Sec12\" class=\"Section2\"\u003e \u003ch2\u003ePatient involvement\u003c/h2\u003e \u003cp\u003eThe need for a citizen participation-based reporting system is closely related to the various challenges faced by patients and their families in the context of rare diseases. Such a system would become a fundamental tool to address these challenges in an effective and collaborative manner.\u003c/p\u003e \u003cp\u003eFirst, a reporting system based on citizen participation would provide a centralised platform where patients can raise concerns and share their experiences. This would allow for direct communication between those affected and health professionals, making it easier to resolve concerns and obtain appropriate guidance.\u003c/p\u003e \u003cp\u003eThe preference of these patients lies in a system that promotes the direct exchange of information, underlining the importance of health professionals taking the lead in medication-related discussions. The active involvement of citizens in reporting medication-related problems, contraindications and other aspects of minority diseases would help to avoid errors and improve the quality of medical care\u003ca class=\"FNLink\" href=\"#Fn24\" id=\"#FNLinkFn24\"\u003e\u003c/a\u003e.\u003c/p\u003e \u003cp\u003eIn terms of practical implementation, it is imperative that a reporting system be under the supervision of different health professionals to ensure the integrity and accuracy of the information shared. In addition, the ability to make contributions anonymously can foster an environment of openness and collaboration, while a classification by topic will facilitate the search and retrieval of relevant information.\u003c/p\u003e \u003cp\u003eIn conclusion, a well-conceived and well-managed reporting system has the potential to positively transform communication and coordination in healthcare, thereby improving quality, safety and patient experience.\u003c/p\u003e \u003c/div\u003e \u003cdiv id=\"Sec13\" class=\"Section2\"\u003e \u003ch2\u003eCitizen science approach\u003c/h2\u003e \u003cp\u003e This study has been based on the tenets of Citizen Science: generating an open and collaborative project involving a diverse (number and profile) of patients (or their relatives) willing to participate in the genesis and development of the study and discuss the role of patients in the observation and recording of data to actively participate in the generation of a safer environment, creating a strong interaction between patients and healthcare professionals sharing priorities, decisions and methods for a better understanding of the challenge of clinical safety in the case of rare diseases.\u003c/p\u003e \u003cp\u003eThe PR methodology brings significant added value to the project by facilitating greater empathy and trust between participants and researchers\u003ca class=\"FNLink\" href=\"#Fn25\" id=\"#FNLinkFn25\"\u003e\u003c/a\u003e. By sharing lived experiences with interviewees, PRs are able to create an atmosphere of greater openness and understanding, which allows for deeper and more authentic accounts. In addition, their knowledge from the perspective of the patient or caregiver allows them to identify and explore relevant issues that might go unnoticed by traditional researchers. This emotional and contextual proximity enriches the analysis and ensures that participants' voices are represented with greater fidelity and nuance.\u003c/p\u003e \u003cp\u003eHowever, it must be considered in these approaches that both PRs described their experience as intense, as they had to manage the emotional connection that arises when interviewing people in situations similar to their own. This aspect has not been noted in the literature so far\u003csup\u003e9\u003c/sup\u003e and it should be considered in both the study design and its execution, as it is one of the aspects that research ethics committees and investigators must take into account when designing these studies. There is evidence that it enhances research strategies and can lead to new research methods\u003csup\u003e11\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eDirect involvement in a project aimed at improving patient safety allowed them to transform their own experiences into a valuable tool to prevent others from facing the same difficulties. On a personal level, they highlighted the development of new skills, such as conducting interviews and categorizing key ideas, which go beyond their experiences as patients or caregivers. Although they faced challenges, they found their participation deeply fulfilling and felt great pride in contributing to the advancement of knowledge and improvements in patient safety. The opportunity to use their personal experiences to improve others' lives provided them with a strong sense of personal and collective accomplishment. Additionally, one of the reported benefits for peer researchers in these studies is scientific literacy.\u003c/p\u003e \u003c/div\u003e"},{"header":"Conclusions","content":"\u003cp\u003eThis study highlights the value of integrating a citizen science approach to optimize patient safety in the context of rare diseases, fostering an enriching collaboration with patients and caregivers.\u003c/p\u003e \u003cp\u003eThe active participation of peer researcher patients has been crucial in accurately identifying risk factors and barriers within the healthcare system, such as deficiencies in communication, empathy, and access to specialized resources.\u003c/p\u003e \u003cp\u003eThe results indicate that involving individuals who experience these conditions firsthand strengthens empathy and enables more detailed data collection and analysis, addressing aspects often overlooked in traditional studies.\u003c/p\u003e \u003cp\u003eFurthermore, implementing a reporting system with citizen participation is proposed as an essential tool for improving communication and coordination between patients and healthcare professionals, promoting a safer and more collaborative environment. This system would allow patients' experiences and observations to become a valuable resource for preventing safety incidents, thereby strengthening trust and transparency in healthcare.\u003c/p\u003e \u003cp\u003eLastly, the citizen science methodology offers significant benefits to participants, who not only acquired new skills but also gained a sense of fulfillment from contributing to the advancement of patient safety. This experience demonstrated that this approach not only enriches the research process but also empowers patients as agents of change, utilizing their experiences to transform the healthcare system for the benefit of all.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cp\u003eWHO: World Health Organization\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eCS: Citizen Science\u003c/p\u003e\n\u003cp\u003ePRs: Peer Researchers\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eEDS: Ehlers-Danlos Syndrome\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eAPS: Antiphospholipid Syndrome\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eLDS: Loeys-Dietz Syndrome\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eSMA: Spinal Muscular Atrophy\u0026nbsp;\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate\u003c/strong\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe study received approval from the Research Ethics Committee of the San Juan University Hospital in Alicante (CE 24/050).\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent of publication\u003c/strong\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and materials\u003c/strong\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors verify that the data supporting the conclusions of this study can be found in the article and its supplementary materials. \u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests\u003c/strong\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors declared no potencial conflicts of interest with respect to the research, authorship, and/or publication of this article. \u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding\u003c/strong\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe study was funding by the Fundaci\u0026oacute;n Espa\u0026ntilde;ola para la Ciencia y la Tecnolog\u0026iacute;a \u0026ndash; Ministerio de Ciencia, Innovaci\u0026oacute;n y Universidades, Spain (reference FCT-22-17999\u003cem\u003e)\u003c/em\u003e. \u0026nbsp;\u003c/p\u003e\n\u003cp\u003eVHG\u0026rsquo;s laboratory receives finantial support from FIS 23/00997 funded by \u0026ldquo;Instituto de Salud Carlos III\u0026rdquo; and co-funded by the European Union, by the European Union\u0026rsquo;s Horizon 2020 research and innovation programme under grant agreement N\u0026deg;825575 (RiTA). \u0026nbsp;From \u0026ldquo;CIBEREHD\u0026rdquo; funded by \u0026ldquo;Instituto de Salud Carlos III\u0026rdquo;. From the \u0026ldquo;Commissioner for Universities and Research from the Department of Economy and Knowledge\u0026rdquo; of the \u0026ldquo;Generalitat de Catalunya\u0026rdquo; (AGAUR SGR2021 01115). \u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthor\u0026acute;s contributions\u0026nbsp;\u003c/strong\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eConcept and design: JJM, VPJ, MGM, VMP\u003c/p\u003e\n\u003cp\u003eAcquisition of fata: VMP, VPJ, VRN, IGM, JCM, LOS\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eAnalysis or interpretation of data: VMP, CNM, MGM, IGM, CSM, VPJ\u003c/p\u003e\n\u003cp\u003eCritical review of manuscript for importance intellectual concept: VPJ, JJM, MGM, ACV, VHG, LOS, JCM, SGG, ACV\u003c/p\u003e\n\u003cp\u003eAdministrative technical or material support: ACV, VHG\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgement\u0026nbsp;\u003c/strong\u003e\u003cstrong\u003e\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe authors would like to express their sincere thanks to the following associations: Sense Barreres, Asociaci\u0026oacute;n Nacional del S\u0026iacute;ndrome de Ehlers Danlos, Hiperlaxitud y colagenopatias (ANSEDH), Objetivo Diagn\u0026oacute;stico, Asociaci\u0026oacute;n Espa\u0026ntilde;ola de Enfermos Vasculares Hep\u0026aacute;ticos, Asociaci\u0026oacute;n Loje\u0026ntilde;a de Atenci\u0026oacute;n a Necesidades Espec\u0026iacute;ficas (ALODANE), Asociaci\u0026oacute;n S\u0026iacute;ndrome Phelan-McDermid, Asociaci\u0026oacute;n 22q11. 2 Andaluc\u0026iacute;a, Asociaci\u0026oacute;n de Enfermos Neuromusculares de Granada (ASEMGRA), Asociaci\u0026oacute;n Espa\u0026ntilde;ola de S\u0026iacute;ndromes Compresivos Vasculares (AESCOV), Asociaci\u0026oacute;n Espa\u0026ntilde;ola de S\u0026iacute;ndrome de Rett (AESR), Asociaci\u0026oacute;n de S\u0026iacute;ndrome de Apert y otras craneosinostosis (APERTCRAS), Asociaci\u0026oacute;n Corro por Marina y Samuel, Asociaci\u0026oacute;n espa\u0026ntilde;ola del s\u0026iacute;ndrome de Wolf hirschhorn, and \u0026nbsp;Asociaci\u0026oacute;n \u0026nbsp;de enfermedades raras y discapacidad PANIDE for their valuable collaboration and support during the development of this work.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eHarrison R, Walton M, Manias E, Smith-Merry J, Kelly P, Iedema R, Robinson L. The missing evidence: a systematic review of patients\u0026apos; experiences of adverse events in health care. Int J Qual Health Care. 2015 Dec;27(6):424-42. doi: 10.1093/intqhc/mzv075. Epub 2015 Sep 29. PMID: 26424702.\u003c/li\u003e\n\u003cli\u003eWorld Health Organization (WHO). Global Patient Safety Action Plan 2021-2030: Towards eliminating avoidable harm in health care [Internet]. Geneva: World Health Organization; 2021 Aug 3. Available from: https://www.who.int/publications/i/item/9789240032705 \u003c/li\u003e\n\u003cli\u003eSerrano F, Clemente J, Iba\u0026ntilde;ez MC, Lostal E, Sanz F, Gomez D, et al. Report of the Citizen Science Observatory in Spain [Internet]. Zenodo; 2016. Available from: http://dx.doi.org/10.5281/zenodo.225678\u003c/li\u003e\n\u003cli\u003eBonter DN, Cooper CB. Data validation in citizen science: a case study from Project FeederWatch. Front Ecol Environ. 2012;10(6):305-7. doi: 10.1890/110273. \u003c/li\u003e\n\u003cli\u003eLivesProject \u0026ndash; Quality of patients living with vascular LIVEr diseaseS. Developing research on the social impact of rare diseases [Internet]. Livesproject.eu. [cited 2024 Apr 4]. Available from: https://livesproject.eu/ \u003c/li\u003e\n\u003cli\u003eObstetric coevolution [Internet]. Obstetriccoevolution.eu. [cited 2024 Apr 4]. Available from: https://www.obstetriccoevolution.eu/en/ \u003c/li\u003e\n\u003cli\u003eHospital de la Santa Creu i Sant Pau. Rare diseases [Internet]. Barcelona: Hospital de la Santa Creu i Sant Pau; 2024 [cited 2024 Oct 23]. Available from: https://www.santpau.cat/es/web/public/malalties-minoritaries \u003c/li\u003e\n\u003cli\u003eFaccio E, Bottecchia M, Rocelli M. Caring for people with rare diseases: A systematic review of the challenges of, and strategies for dealing with, COVID-19. Int J Environ Res Public Health [Internet]. 2023;20(19):6863. Available from: http://dx.doi.org/10.3390/ijerph20196863\u003c/li\u003e\n\u003cli\u003eMarks L, Laird Y, Trevena H, Smith BJ, Rowbotham S. A scoping review of citizen science approaches in chronic disease prevention. Front Public Health [Internet]. 2022;10. Available from: http://dx.doi.org/10.3389/fpubh.2022.743348 \u003c/li\u003e\n\u003cli\u003eMira JJ, P\u0026eacute;rez-Jover V, Lorenzo S, Aranaz J, Vitaller J. Qualitative research is a valid alternative too. Aten Primaria 2004;34(4):161-169. https://doi.org/10.1016/S0212-6567(04)78902-7\u003c/li\u003e\n\u003cli\u003eCheng A, Eppich W, Epps C, et al. Embracing informed learner self-assessment during debriefing: the art of plus-delta. Adv Simul. 2021;6:22. doi: 10.1186/s41077-021-00173-1. \u003c/li\u003e\n\u003cli\u003eDen Broeder L, Devilee J, Van Oers H, Schuit AJ, Wagemakers A. Citizen Science for public health. Health Promot Int. 2018;33(3):505-14. doi: 10.1093/heapro/daw086.\u003c/li\u003e\n\u003cli\u003eEnglish PB, Richardson MJ, Garz\u0026oacute;n-Galvis C. From crowdsourcing to extreme citizen science: participatory research for environmental health. Annu Rev Public Health. 2018;39:335-50. doi: 10.1146/annurev-publhealth-040617-013702.\u003c/li\u003e\n\u003cli\u003eKavanagh KT, Cormier LE. Viewpoint: Patient safety in primary care \u0026ndash; patients are not just recipients but a critical component in its achievement. Medicine (Baltimore). 2023;102(37). doi: 10.1097/MD.0000000000035095.\u003c/li\u003e\n\u003cli\u003eHowick J, Bennett-Weston A, Solomon J, et al. How does communication affect patient safety? Protocol for a systematic review and logic model. BMJ Open. 2024;14. doi: 10.1136/bmjopen-2024-085312.\u003c/li\u003e\n\u003cli\u003eShahrestanaki SK, Rafii F, Najafi Ghezeljeh T, Farahani MA, Majdabadi Kohne ZA. Patient safety in home health care: a grounded theory study. BMC Health Serv Res. 2023;23(1):467. doi: 10.1186/s12913-023-09458-9.\u003c/li\u003e\n\u003cli\u003eInstitute of Medicine (US) Committee on Quality of Health Care in America, Kohn LT, Corrigan JM, Donaldson MS, editors. To Err is Human: Building a Safer Health System. Washington (DC): National Academies Press (US); 2000. Available from: https://www.ncbi.nlm.nih.gov/books/NBK225188 \u003c/li\u003e\n\u003cli\u003eSubramaniam TS, Valuyeetham PS, Kamaru Ambu V. Empathy amongst doctors: an observational study. Med J Malaysia. 2023;78(3):344-349.\u003c/li\u003e\n\u003cli\u003eHannawa AF, Frankel RM. It matters what I think, not what you say: scientific evidence for a medical error disclosure competence (MEDC) model. J Patient Saf. 2021;17(8). doi: 10.1097/PTS.0000000000000524.\u003c/li\u003e\n\u003cli\u003eWalkowiak D, Domaradzki J. Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study. Orphanet J Rare Dis. 2021;16(1):400. doi: 10.1186/s13023-021-02023-9.\u003c/li\u003e\n\u003cli\u003eRamalle-G\u0026oacute;mara E, Dom\u0026iacute;nguez-Garrido E, G\u0026oacute;mez-Egu\u0026iacute;laz M, Marzo-Sola ME, Ram\u0026oacute;n-Trapero JL, Gil-de-G\u0026oacute;mez J. Education and information needs for physicians about rare diseases in Spain. Orphanet J Rare Dis. 2020;15(1):18. doi: 10.1186/s13023-019-1285-0.\u003c/li\u003e\n\u003cli\u003eLegrand MA, Bagouet F, Merle B, Gensburger D, Chapurlat R. Value of rare disease referral centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone. Eur J Med Genet. 2023;66(11):104849. doi: 10.1016/j.ejmg.2023.104849.\u003c/li\u003e\n\u003cli\u003eYuan CT, Dy SM, Yuanhong Lai A, et al. Challenges and strategies for patient safety in primary care: a qualitative study. Am J Med Qual. 2022;37(5):379-87. doi: 10.1097/JMQ.0000000000000054.\u003c/li\u003e\n\u003cli\u003eGong Y, Kang H, Wu X, Hua L. Enhancing patient safety event reporting: a systematic review of system design features. Appl Clin Inform. 2017;8(3):893-909. doi: 10.4338/ACI-2016-02-R-0023.\u003c/li\u003e\n\u003cli\u003eVelvin G, Hartman T, Bathen T. Patient involvement in rare diseases research: a scoping review of the literature and mixed method evaluation of Norwegian researchers\u0026rsquo; experiences and perceptions. Orphanet J Rare Dis. 2022;17:212. doi: 10.1186/s13023-022-02357-y.\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"orphanet-journal-of-rare-diseases","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"ojrd","sideBox":"Learn more about [Orphanet Journal of Rare Diseases](http://ojrd.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/ojrd/default.aspx","title":"Orphanet Journal of Rare Diseases","twitterHandle":"@bmc","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"BMC/SO AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"Patient safety, Rare diseases, Safety incidents, Citizen Science, Patients","lastPublishedDoi":"10.21203/rs.3.rs-5536935/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-5536935/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cstrong\u003eBackground\u003c/strong\u003e: The active involvement of patients and their families in patient safety is essential in healthcare systems. Citizen Science can be useful for this purpose, especially for rare diseases, by gathering data and contributions from patients to design safer environments. The aim of this study was to understand perceptions of critical safety elements in the context of rare diseases, along with facilitators and barriers to patient involvement in patient safety.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eResults\u003c/strong\u003e: Three focus groups were held with 12 patients and 18 family members, along with 9 interviews with caregivers and individuals with rare diseases, between May and June 2024. Results were categorized into three main groups: critical elements, barriers, and facilitators of patient safety. Key elements identified for safety included effective coordination and communication. A main barrier was the lack of social skills and empathy from some healthcare professionals. The primary facilitator was social support, which promotes the active involvement of patients in their own safety. The importance of developing a reporting system that enables patients and caregivers to effectively exchange valuable information was highlighted.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusions\u003c/strong\u003e: Coordination, empathy from healthcare personnel, and social support are key aspects of safety. This study demonstrates the usefulness of employing a methodology based on Citizen Science principles, incorporating new elements such as the role of Peer Researchers.\u003c/p\u003e","manuscriptTitle":"Patients for Patient Safety in the Context of Rare Diseases","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-06-12 10:29:21","doi":"10.21203/rs.3.rs-5536935/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"reviewersInvited","content":"","date":"2025-06-10T09:10:10+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2024-12-02T10:34:35+00:00","index":"","fulltext":""},{"type":"submitted","content":"Orphanet Journal of Rare Diseases","date":"2024-12-01T11:10:57+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"orphanet-journal-of-rare-diseases","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"ojrd","sideBox":"Learn more about [Orphanet Journal of Rare Diseases](http://ojrd.biomedcentral.com/)","snPcode":"","submissionUrl":"https://www.editorialmanager.com/ojrd/default.aspx","title":"Orphanet Journal of Rare Diseases","twitterHandle":"@bmc","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"BMC/SO AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"22acfd3e-9fc5-44ca-b413-b5ebf46c6d8b","owner":[],"postedDate":"June 12th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2025-06-12T10:29:21+00:00","versionOfRecord":[],"versionCreatedAt":"2025-06-12 10:29:21","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-5536935","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-5536935","identity":"rs-5536935","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}