[Sustainable reimbursement of the B­centres for rare diseases in Germany-status quo and solution approaches]. / Nachhaltige Vergütung der B­Zentren für Seltene Erkrankungen in Deutschland ­ Status quo und Lösungsansätze.

BACKGROUND: To ensure specialized care of patients with rare diseases, numerous centres for rare diseases were funded over the past few years. The reimbursement of patients' ambulatory care in hospitals, however, is characterized by a plurality of forms of care and payment. There is some evidence of deficits in the reimbursement of care of patients suffering from a rare disease from studies on individual rare diseases. OBJECTIVES: To investigate current forms of care provision and reimbursement of centres for rare diseases and to develop future approaches for sustainable compensation. MATERIALS AND METHODS: Initially, centres for rare diseases in Germany were asked to provide information about their forms of care and reimbursement using questionnaires. Subsequently, two focus group interviews and one expert interview with representatives from centres for rare diseases, health insurance, health politics and patients were conducted to discuss current and future meritocratic forms of care provision and reimbursement. The data were evaluated using content analysis. RESULTS AND CONCLUSIONS: Thirty-nine centres for rare diseases participated in the questionnaire survey. Of those, 38% receive a flat fee/allowance for university outpatient departments, the amount of which varies notably, and 41% obtain a mixed payment comprising an allowance for university outpatient departments and other forms of reimbursement. An under-recovery of costs in centres for rare diseases and its impact on patient care were mentioned in the interviews. In this context, a need to further develop forms of care provision and reimbursement has been identified. Participants prefer a special flat fee/allowance for rare diseases that covers the time-consuming care for patients with rare diseases.

Use and importance of different information sources among patients with rare diseases and their relatives over time: a qualitative study.

BACKGROUND: Finding reliable information on one of more than 7000 rare diseases is a major challenge for those affected. Since rare diseases are defined only by the prevalence criterion, a multitude of heterogeneous diseases are included. Common to all, however, are difficulties regarding information access. Even though various quantitative studies have analyzed the use of different information sources for specific rare diseases, little is known about the use of information sources for different rare diseases, how users rate these information sources based on their experiences, and how the use and importance of these information sources change over time. METHODS: Fifty-five patients with a variety of rare diseases and 13 close relatives participated in qualitative interviews. For these interviews, a semi-structured guideline was developed, piloted, and revised. Data analysis involved a qualitative content analysis developed by Philipp Mayring. RESULTS: The participants considered internet as the most important and widespread information source, especially for early information. Although patients have difficulty dealing with information obtained online, they consider online searching a quick and practical option to gather information. During the course of the disease, personal contact partners, especially self-help associations and specialized doctors, become more important. This is also because information provided online is sometimes insufficiently detailed to answer their information needs, which can be complemented by information from doctors and self-help. CONCLUSIONS: People rarely use just one type of source, but rather refer to different sources and informants. The source used depends on the type of information sought as well as other person-related factors such as preexisting knowledge and the disease stage. To improve people's information searching and connect them with medical specialists in rare diseases, a central information portal on rare diseases might be a suitable access point to provide free and quality assured information for patients, caregivers, and physicians. This would allow not only patients but also doctors to find quality assured information on symptoms and therapies as well as patient associations and specialized doctors.

Integrating patient perspectives in medical decision-making: a qualitative interview study examining potentials within the rare disease information exchange process in practice.

BACKGROUND: Many European countries have recently implemented national rare disease plans. Although the network is strengthening, especially on the macro and meso levels, patients still go a long way through healthcare systems, with many health professionals involved and scarce evidence to gather. Specifically, patient involvement in the form of shared decision-making can offer further potential to increase healthcare systems' efficiency on a micro level. Therefore, we examine the implementation of the shared decision-making concept thus far, and explore whether efficiency potentials exist-which are particularly relevant within the rare disease field-and how they can be triggered. METHODS: Our empirical evidence comes from 101 interviews conducted from March to September 2014 in Germany; 55 patients, 13 family members, and 33 health professionals participated in a qualitative interview study. Transcripts were analyzed using a directed qualitative content analysis. RESULTS: The interviews indicate that the decision-making process is increasingly relevant in practice. In comparison, however, the shared decision-making agreement itself was rarely reported. A majority of interactions are dominated by individual, informed decision-making, followed by paternalistic approaches. The patient-physician relationship was characterized by a distorted trust-building process, which is affected by not only dependencies due to the diseases' severity and chronic course, but an often-reported stigmatization of patients as stimulants. Moreover, participation was high due to a pronounced engagement of those affected, diminishing as patients' strength vanish during their odyssey through health care systems. The particular roles of "expert patients" or "lay experts" in the rare disease field were revealed, with further potential in integrating the gathered information. CONCLUSIONS: The study reveals the named efficiency potentials, which are unique for rare diseases and make the further integration of shared decision-making very attractive, facilitating diagnostics and disease management. It is noteworthy that integrating shared decision-making in the rare disease field does not only require strengthening the position of patients but also that of physicians. Efforts can be made to further integrate the concept within political frameworks to trigger the identified potential and assess the health-economic impact.

Telephone health services in the field of rare diseases: a qualitative interview study examining the needs of patients, relatives, and health care professionals in Germany.

BACKGROUND: Rare diseases are, by definition, very serious and chronic diseases with a high negative impact on quality of life. Approximately 350 million people worldwide live with rare diseases. The resulting high disease burden triggers health information search, but helpful, high-quality, and up-to-date information is often hard to find. Therefore, the improvement of health information provision has been integrated in many national plans for rare diseases, discussing the telephone as one access option. In this context, this study examines the need for a telephone service offering information for people affected by rare diseases, their relatives, and physicians. METHODS: In total, 107 individuals participated in a qualitative interview study conducted in Germany. Sixty-eight individuals suffering from a rare disease or related to somebody with rare diseases and 39 health care professionals took part. Individual interviews were conducted using a standardized semi-structured questionnaire. Interviews were analysed using the qualitative content analysis, triangulating patients, relatives, and health care professionals. The fulfilment of qualitative data processing standards has been controlled for. RESULTS: Out of 68 patients and relatives and 39 physicians, 52 and 18, respectively, advocated for the establishment of a rare diseases telephone service. Interviewees expected a helpline to include expert staffing, personal contact, good availability, low technical barriers, medical and psychosocial topics of counselling, guidance in reducing information chaos, and referrals. Health care professionals highlighted the importance of medical topics of counselling-in particular, differential diagnostics-and referrals. CONCLUSIONS: Therefore, the need for a national rare diseases helpline was confirmed in this study. Due to limited financial resources, existing offers should be adapted in a stepwise procedure in accordance with the identified attributes.

Rare Diseases on the Internet: An Assessment of the Quality of Online Information.

BACKGROUND: The importance of the Internet as a medium for publishing and sharing health and medical information has increased considerably during the last decade. Nonetheless, comprehensive knowledge and information are scarce and difficult to find, especially for rare diseases. Additionally, the quality of health or medical information about rare diseases is frequently difficult to assess for the patients and their family members. OBJECTIVE: The aim of this study is to assess the quality of information on the Internet about rare diseases. Additionally, the study aims to evaluate if the quality of information on rare diseases varies between different information supplier categories. METHODS: A total of 13 quality criteria for websites providing medical information about rare diseases were transferred to a self-disclosure questionnaire. Identified providers of information on the Internet about rare diseases were invited to fill out the questionnaire. The questionnaire contained questions about the information provider in general (eg, supplier category, information category, language, use of quality certificates, and target group) and about quality aspects that reflect the 13 quality criteria. Differences in subgroup analyses were performed using t tests. RESULTS: We identified 693 websites containing information about rare diseases. A total of 123 questionnaires (17.7%) were completely filled out by the information suppliers. For the remaining identified suppliers (570/693, 82.3%), the questionnaires were filled out by the authors based on the information available on their website. In many cases, the quality of websites was proportionally low. Furthermore, subgroup analysis showed no statistically significant differences between the quality of information provided by support group/patient organization compared to medical institution (P=.19). The quality of information by individuals (patient/relative) was significantly lower compared to information provided by support group/patient organization (P=.001), medical institution (P=.009), and other associations and sponsoring bodies (P=.001) as well. CONCLUSIONS: Overall, the quality of information on the Internet about rare diseases is low. Quality certificates are rarely used and important quality criteria are often not fulfilled completely. Additionally, some information categories are underrepresented (eg, information about psychosocial counseling, social-legal advice, and family planning). Nevertheless, due to the high amount of information provided by support groups, this study shows that these are extremely valuable sources of information for patients suffering from a rare disease and their relatives.

[Central information portal on rare diseases : Implementation of quality- and needs-oriented information management]. / Zentrales Informationsportal über seltene Erkrankungen : Umsetzung eines qualitäts- und bedarfsorientierten Informationsmanagements.

BACKGROUND: A central information portal on rare diseases (ZIPSE) has been conceptualized and implemented that allows patients, relatives and health care professionals to access quality-assured information. For this purpose, quality criteria have been developed specifically for rare diseases. At the same time, the information basis should take into account the specific needs of those interested. OBJECTIVES: The needs of patients and relatives regarding online-based information are analyzed. Based on this, we examined to what extent the information basis, which is available according to the ZIPSE quality criteria, can cover these needs. If necessary, measures have to be developed to ensure quality- as well as needs-oriented information management. MATERIALS AND METHODS: Qualitative interviews with patients and relatives were conducted, which were then evaluated using content analysis. Subsequently, a quantitative evaluation of the information on rare diseases in the portal was made. The research addresses how many websites do not fulfil the quality criteria, from which group of provider these websites originate and which criteria are not fulfilled. This is followed by a comparison of the quantitative and qualitative results. RESULTS AND CONCLUSIONS: When looking for information on the Internet, the websites of self-help groups represent a significant source. These are perceived as very trustworthy and in the later course of the disease, offer detailed information on important information areas. Information websites from self-help groups, however, often do not meet quality requirements. Therefore, a transparent representation is made regarding the quality of the ZIPSE information pages. Pages that are not quality-assured can be actively requested, but will be clearly identified.

The Economic Impact and Health-Related Quality of Life of Spinal Muscular Atrophy. An Analysis across Europe.

Background: this study aimed to estimate the economic impact and health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in three European countries. It was used a cross-sectional study carried out in France, Germany, and the United Kingdom. Data were collected from July 2015 to November 2015. Healthcare costs (hospitalizations, emergencies, medical tests, drugs used, visits to general practitioners (GPs) and specialists, medical material and healthcare transport), and non-healthcare costs (social services and informal care) were identified and valued. EuroQol instruments, the Zarit interview, and the Barthel Index were also used to reflect the burden and the social impact of the disease beyond the cost of healthcare. Results: we included 86 children with SMA, 26.7% of them had Type I, and 73.3% Type II or III. The annual average cost associated with SMA reaches €54,295 in the UK, €32,042 in France and €51,983 in Germany. The direct non-healthcare costs ranged between 79-86% of the total cost and the informal care costs were the main component of these costs. Additionally, people suffering from this disease have a very low health-related quality of life, and there are large differences between countries. Conclusions: SMA has a high socioeconomic impact in terms of healthcare and social costs. It was also observed that the HRQOL of affected children was extremely reduced. The figures shown in this study may help to design more efficient and equitable policies, with special emphasis on the support provided to the families or on non-healthcare aid.

The Burden of Spinal Muscular Atrophy on Informal Caregivers.

Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood. The progression of this illness causes a high degree of disability; hence, a significant burden is experienced by individuals with this disease and their families. We analyzed the time taken to care for patients suffering from SMA in European countries and the burden on their informal caregivers. We designed a cross-sectional study recording data from France, Germany, Spain and the United Kingdom. The primary caregivers completed a self-administered questionnaire that included questions about the time of care, The Zarit Burden Interview, type of SMA and socio-demographic characteristics. Multivariate analyses were used to study the associations between the type of SMA, time of care and burden supported by informal caregivers. The caregivers provided 10.0 h (SD = 6.7) per day of care (the principal caregivers provided 6.9 h, SD = 4.6). The informal caregivers of patients with type I SMA had a 36.3 point higher likelihood (p < 0.05) of providing more than 10 h of care per day in comparison with caregivers of patients with type III SMA. The severity of the disease was associated with more time of care and a higher burden on the caregivers.

Metadata Correction: Conceptualization and Implementation of the Central Information Portal on Rare Diseases: Protocol for a Qualitative Study.

[This corrects the article DOI: 10.2196/resprot.7425.].

Conceptualization and Implementation of the Central Information Portal on Rare Diseases: Protocol for a Qualitative Study.

BACKGROUND: Recently, public and political interest has focused on people living with rare diseases and their health concerns. Due to the large number of different types of rare diseases and the sizable number of patients, taking action to improve the life of those affected is gaining importance. In 2013, the federal government of Germany adopted a national action plan for rare diseases, including the call to establish a central information portal on rare diseases (Zentrales Informationsportal über seltene Erkrankungen, ZIPSE). OBJECTIVE: The objective of this study, therefore, was to conduct scientific research on how such a portal must be designed to meet the needs of patients, their families, and medical professionals, and to provide high-quality information for information seekers. METHODS: We chose a 3-step procedure to develop a needs-based prototype of a central information portal. In the first step, we determined the information needs of patients with rare diseases, their relatives, and health care professionals by means of qualitative interviews and their content-analytical evaluation. On the basis of this, we developed the basic structure of the portal. In the second step, we identified quality criteria for websites on rare diseases to ensure that the information linked with ZIPSE meets the quality demands. Therefore, we gathered existing criteria catalogs and discussed them in an expert workshop. In the third step, we implemented and tested the developed prototypical information portal. RESULTS: A portal page was configured and made accessible on the Web. The structure of ZIPSE was based on the findings from 108 qualitative interviews with patients, their relatives, and health care professionals, through which numerous information needs were identified. We placed particularly important areas of information, such as symptoms, therapy, research, and advisory services, on the start page. Moreover, we defined 13 quality criteria, referring to factors such as author information, creation date, and privacy, enabling links with high-quality information. Moreover, 19 users tested all the developed routines based on usability and comprehensibility. Subsequently, we improved the visual presentation of search results and other important search functions. CONCLUSIONS: The implemented information portal, ZIPSE, provides high-quality information on rare diseases from a central point of access. By integrating the targeted groups as well as different experts on medical information during the construction, the website can assure an improved search for information for users. ZIPSE can also serve as a model for other Web-based information systems in the field of rare diseases. REGISTERED REPORT IDENTIFIER: RR1-10.2196/7425.

[Priority setting and rationing of pharmaceuticals - an experimental analysis of discussion processes]. / Priorisierung und Rationierung von Arzneimittel ­ eine experimentelle Analyse von Diskussionsprozessen.

BACKGROUND/OBJECTIVE: In the face of rising expenditure among statutory sickness funds in Germany it is necessary to start a discussion about priority setting in the healthcare system. For a long time this issue has been avoided in healthcare debates. As a result, normative directives are still missing, which can lead to priority setting among healthcare providers in daily healthcare practice. Prioritization can be conducted at three different levels: at the government (macro), the institutional (meso), and the patient (micro) level. Surveys about societal preferences for different criteria exist; however, specifications on their respective weighting in the situation of approval and reimbursement of pharmaceuticals (meso) are missing. For this reason, the present study analyzed the implementation and weighting of the criteria for priority setting at the meso level, taking values and experiences of the participants into account. METHOD: Six qualitative focus groups were carried out with representatives from the fields of medicine, ethics, public health and economics. During the discussions four fictitious drugs for the treatment of different lung diseases were prioritized based on guidelines. The discussion processes were analyzed according to Bohnsack's documentary method. RESULTS: The criteria "quality of life", "life expectancy" and "other patient-relevant outcomes" were discussed in relation to each other. The evaluation of change in patient-relevant outcomes was difficult to perform for non-medical participants. The second argument concerned the criteria "costs", disease severity and "number of patients". Costs were given less weight, but were often used to support other criteria. Other challenges in reaching a consensus included emerging role conflicts between profession and personal opinion, and the transfer of the discussion to a different level of decision-making. DISCUSSION: In the discussions the problem of prioritizing did not arise from different preferences for prioritization criteria, but from the weighting of the criteria. The operationalization of the criteria seemingly depends on the decision-making situation, the participants' personal connection with the relevant disease and on the correspondence between evidence and personal experiences.

Shaping an Effective Health Information Website on Rare Diseases Using a Group Decision-Making Tool: Inclusion of the Perspectives of Patients, Their Family Members, and Physicians.

BACKGROUND: Despite diverging definitions on rare conditions, people suffering from rare diseases share similar difficulties. A lack of experience by health professionals, a long wait from first symptoms to diagnosis, scarce medical and scientific knowledge, and unsatisfactory treatment options all trigger the search for health information by patients, family members, and physicians. Examining and systematically integrating stakeholder needs can help design information platforms that effectively support this search. OBJECTIVE: The aim of this study was to innovate on the group decision-making process involving patients, family members, and physicians for the establishment of a national rare disease Internet platform. We determined differences in the relevance of health information-especially examining quantifiable preference weights-between these subgroups and elucidated the structure and distribution of these differences in people suffering from rare diseases, their family members, and physicians, thus providing information crucial to their collaboration. METHODS: The included items were identified using a systematic Internet research and verified through a qualitative interview study. The identified major information needs included medical issues, research, social help offers, and current events. These categories further comprised sublevels of diagnosis, therapy, general disease pattern, current studies, study results, registers, psychosocial counseling, self-help, and sociolegal advice. The analytic hierarchy process was selected as the group decision-making tool. A sensitivity analysis was used to determine the stability and distribution of results. t tests were utilized to examine the results' significance. RESULTS: A total of 176 questionnaires were collected; we excluded some questionnaires in line with our chosen consistency level of 0.2. Ultimately, 120 patients, 24 family members, and 32 physicians participated in the study (48 men and 128 women, mean age=48 years, age range=17-87 years). Rankings and preference weights were highly heterogeneous. Global ranking positions of patients, family members, and physicians are shown in parentheses, as follows: medical issues (3/4, 4, 4), research (3/4, 2/3, 3), social help offers (1, 2/3, 2), and current events (2, 1, 1); diagnosis (6, 8, 9), therapy (5, 9, 7), general disease pattern (9, 4/5/6, 6), current studies (7, 4/5/6, 3), study results (8, 7, 8), registers (4, 1, 5), psychosocial counseling (1, 2, 4), self-help (3, 3, 2), and sociolegal advice (2, 4/5/6, 1). Differences were verified for patients for 5 information categories (P=.03), physicians for 6 information categories (P=.03), and family members for 4 information categories (P=.04). CONCLUSIONS: Our results offer a clear-cut information structure that can transparently translate group decisions into practice. Furthermore, we found different preference structures for rare disease information among patients, family members, and physicians. Some websites already address differences in comprehension between those subgroups. Similar to pharmaceutical companies, health information providers on rare diseases should also acknowledge different information needs to improve the accessibility of information.

Adopting Quality Criteria for Websites Providing Medical Information About Rare Diseases.

BACKGROUND: The European Union considers diseases to be rare when they affect less than 5 in 10,000 people. It is estimated that there are between 5000 and 8000 different rare diseases. Consistent with this diversity, the quality of information available on the Web varies considerably. Thus, quality criteria for websites about rare diseases are needed. OBJECTIVE: The objective of this study was to generate a catalog of quality criteria suitable for rare diseases. METHODS: First, relevant certificates and quality recommendations for health information websites were identified through a comprehensive Web search. Second, all considered quality criteria of each certification program and catalog were examined, extracted into an overview table, and analyzed by thematic content. Finally, an interdisciplinary expert group verified the relevant quality criteria. RESULTS: We identified 9 quality certificates and criteria catalogs for health information websites with 304 single criteria items. Through this, we aggregated 163 various quality criteria, each assigned to one of the following categories: thematic, technical, service, content, and legal. Finally, a consensus about 13 quality criteria for websites offering medical information on rare diseases was determined. Of these categories, 4 (data protection concept, imprint, creation and updating date, and possibility to contact the website provider) were identified as being the most important for publishing medical information about rare diseases. CONCLUSIONS: The large number of different quality criteria appearing within a relatively small number of criteria catalogs shows that the opinion of what is important in the quality of health information differs. In addition, to define useful quality criteria for websites about rare diseases, which are an essential source of information for many patients, a trade-off is necessary between the high standard of quality criteria for health information websites in general and the limited provision of information about some rare diseases. Finally, transparently presented quality assessments can help people to find reliable information and to assess its quality.