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

Historically, a paternalistic decision model has been established within several healthcare systems [1, 2]. However, as healthcare systems shift toward patient-centered care, the patient’s role has become increasingly prominent. Integrating concepts of evidence-based medicine and patient perspectives, such as the inclusion of patient preferences, has also become increasingly relevant [3, 4].

The concept of shared decision-making (SDM) was first mentioned as such in 1982 [5]. It has been positioned as a centerpiece between paternalistic models, in which physicians dominate the decision-making process, and an informed patient choice model, in which the physician provides information but the patient assumes a leading role [4, 6]. The most often-cited concept originates from the work of Charles et al. [6], who defined SDM as a collaborative process between patient and provider based on a discussion of options, evidence, and potential benefits and harms; this especially considers the patient’s preferences and situations [6].

A review of literature published between 1996 and 2011 by Blanc et al. [7] identified 1285 out of 229,179 publications in 15 journals addressing the topic of SDM. In this context, it was identified that publications in medical journals increased exponentially during this period, which indicates the topic’s growing relevance. However, the meaning of SDM is often assumed rather than interpreted through SDM testing models [8]. Other studies suggest that existing SDM models only partially reflect the factors that influence patient empowerment or the breadth of their further potential [9, 10]. Literature suggests that SDM concepts augment patients’ satisfaction with the healthcare system, especially regarding the quality of care [12]. Further, this can also positively affect health outcomes. Patients’ poor compliance and inappropriate use of medicines arise from poor communication, the patient’s lack of understanding of how the drug is expected to work and its potential side effects, and a failure between the patient and physician to find a common ground or concordance [13, 14]. Desrroches et al. [4] suggest that SDM should be chosen as an ideal chronic disease strategy to improving compliance with medications and therapeutic processes, which is a major public health issue. This suggests a particular relevance regarding diseases with chronic life cycles.

Nevertheless, healthcare professionals consistently fail to facilitate patient involvement, and even fewer include patient preferences in care [15]. An appropriate level of SDM does occur in practice, although only in approximately 10% of cases [16], suggesting that although literature broadly covers the SDM process, further efforts are still necessary to expand its usage.

Estimations reveal that approximately 350 million people are affected by rare diseases worldwide. Many rare diseases can be traced to a genetic origin, often linked to a chronic course of diseases as well as severe symptoms [17]. Although various different health conditions affecting different parts of the human body are subsumed under the term “rare diseases,” these people share common difficulties [18].

Consequently, worldwide rare disease national plans have been implemented, with 20 implemented overall in Europe from 2004 to 2014. These policies focus on centers, networking, research, disease registries, coding, therapies, information provision, and patient organization [19]. In this regard, patients are solely and indirectly included through patient organizations. However, the German National Plan for cancerous diseases indicates that direct patient involvement is also strengthened through empathetic communication and including patients in decision-making, as noted in action field number 4 [20].

On the one hand, information needs and preferences have already been examined in the rare disease field [21‐23]. However, concepts of shared decision-making have thus far only been evaluated in such contexts as diabetes [8], mental illnesses [9], coronary heart disease [24], and cancer screening programs [25]. Evaluations regarding rare diseases that include all people affected as well as physicians are still lacking.

On the other hand, physicians can provide extensive information on treatment options and managed care contracts in prominent disease areas, such as diabetes and cancer. However, information in the rare disease field is often scarce, and those affected often become “experts” of their own disease by capturing substantial information during their long odyssey through healthcare systems [26].

Triggering this information through effective information exchange strategies, such as shared decision-making, could contribute to the efficiency of, and overall satisfaction with, healthcare systems. Therefore, the purpose of the underlying study is to examine the implementation of the SDM concept in Germany. Further, the study explores whether efficiency potentials exist for the healthcare system within the rare disease field. The triangulation of patient interviews with family members’ and physicians’ opinions controls for the results’ validity and practicability. The results also contribute to the framework of shared decision-making, as this framework identifies potentials resulting from the specifics of rare conditions.

Overall, a qualitative, non-random quota-sampling technique was used. In this context, the population is first determined regarding specific qualities, and certain quotas are then recruited from these subgroups [31].

The interviewed physicians are part of the field of action of people affected by rare diseases defined as such by Meuser and Nagel [32]. Physicians as health experts serve to supply information from the operating contexts of those affected, covering the overall spectrum of the providing health care structure [32]. Therefore, physicians were selected in accordance with their profession, including general practitioners, specialists, and clinicians. Moreover, guides in the rare disease field were also questioned. The term “clinicians” in Germany represents medical experts working in hospitals, while “specialists” operate in private practice. Guides differ in their qualifications and are equally trained to direct patients suffering from rare diseases, but were only included in instances in which a medical background could be determined. The Centre of Quality and Management in Health Care, in the State Medical Chamber of Lower Saxony in Hannover, was responsible for recruiting medical professionals. All physicians were recruited within the geographic region of Lower Saxony, representing both urban and rural areas in Germany. As clinical guides occur less frequently, this entire subgroup was recruited from all regions in Germany. The following criteria were employed to create appropriate subgroups: residence, such as rural, urban, or metropolitan; single versus group practice; medical care level, such as basic, regular, specialist, and maximum; and level of the physician’s medical experience, with hierarchy levels of assistant physician, senior physician, and chief physician. A physician’s hierarchy level is referred to as an indicator of the experience of hospital physicians. Therefore, different modes of employment, called “hierarchy levels” in this case, were differentiated. In German hospitals, three different professional positions are common, beginning with the lowest level of “assistant physician,” followed by “senior physician,” and then the most experienced level of “chief physician”. Therefore, the sample covers the heterogeneous area of healthcare provision relative to the research topic of interest, and thus, covers the field of action defined by Meuser and Nagel [32] regarding physicians as experts on rare diseases in Germany.

Three different interviewers queried patients and family members between March and November 2014, while two other interviewers met with physicians between April and October 2014.

Interviews were held face-to face (patients and relatives: 40; physicians: 26) and by telephone (patients and relatives: 29; physicians: 7). Not all interviews could be conducted face-to-face due to appointments on short notice, the need for extensive disproportionate travel, or participants’ preference.

Interviews were conducted according to a semi-structured interview guide. The interview guide was developed during a mutual workshop of the research group led by an experienced external qualitative researcher. The qualitative researcher presented the relevant qualitative research guidelines. Afterwards, the research group presented the potential interview questions. During our mutual discussion, questions were adapted further, as the first draft included questions that did not induce narration appropriately. The second drafts of the question and sub-question sets containing further minor wording adaptions was sent to the research group via email to reach a final consensus on the question set. The interview flow was initiated through a narrative question requesting rare disease experiences from the onset. Sub-questions concerned the diagnosis, and therapy and disease management were only posed when questions were not autonomously addressed. This approach was chosen to identify emerging SDM aspects, rather than proffering the SDM concept for the participants. Thus, we strove to avoid overestimating SDM effects, which can occur due to expressive reporting, when directly inquiring about a concept. Further, requests were made as interviewers observed the necessity. Questions on information-gathering behavior and interchanges were subsequently posed.

The interview study was embedded into the creation of a national rare disease Internet platform in Germany (Zentrales Informationsportal über seltene Erkrankungen, or “ZIPSE”), which enables patients and family members to actively gather quality-assured evidence [33].

The interview guide was pretested with one patient and one family member, and was then adapted to include the perspectives of participants who have experienced their diseases since birth. The following interviews appropriately covered the different courses of rare diseases, and therefore, this study could optimally cover the different paths through the healthcare system and interactions with healthcare specialists could be ideally covered. The physician’s interview guide was accordingly developed to align the guide’s structure, and was pretested by interviewing one physician (female, 43 years). Piloting the interview guide demonstrated that relevant cases could be appropriately triggered based on the interview guide. Nevertheless, some adaptations were necessary, as the healthcare professionals offered different perspectives on the topic. The research group mutually reviewed both interview guides to align standardized procedures. We first conducted a trial run of an interview to practice the procedure and control for the fit of the posed interview questions. During the following interviews, participants’ pathways through the healthcare system, also referring to interactions with the contacted medical professionals, diagnosis, and potential therapies, as well as the diverging information sources and/or information access points, were well described. Qualitative research also gives the option to further adapt the interview guide along the way. Therefore, we continuously checked for further adaptation needs. However, due to in-depth narration of interviewees and coverage of the addressed topics, no further adaptations were deemed necessary.

All participant interviews were audio recorded, and later transcribed with the aid of F4 transcription software (Version 6, Dr. Dresing & Pehl GmbH in Germany). A standardized interview protocol was also distributed to interviewers of patients and family members to document any special circumstances potentially relevant in interpreting the collected data. A standardized transcription booklet was developed for patients, relatives, and physicians, and was used as a transcription guideline. The transcription booklet offers a standardized definition of different transcription strategies and codes, where diverging options were possible. This defined the anonymization of participants and locations, as well as the handling of any incomprehensible audio sections.

All steps of a qualitative content analysis were then recognized [34]. Hence, transcripts were analyzed based on a directed qualitative content analysis [27]. An inductive-deductive approach was used. Predefined items were identified in a deductive first step using Charles et al.’s [6] predominately used definition of SDM. Therefore, the following items were noted: 1. The “patient-physician relationship,” 2. “Participation,” 3. “Information exchange,” and 4. “Decision-making.” Second, subcategories were developed, assigned and revised in a stepwise procedure following Mayring’s [27] inductive category development process. Finally, two further researchers revised the evolving items to ensure both formative and summative reliability and any differences were addressed and included in the data analyses. Ultimately, the patients’, family members’, and physicians’ results were triangulated. Evolving items from physicians’ and relatives’ interviews were matched with already identified items from patients’ interviews, where appropriate. Otherwise, a new subcategory was deemed necessary. All quotations were reviewed by a native speaker.

The underlying interview study revealed that medical decision-making as a part of the patient-physician interaction is particularly relevant in the rare disease field due to a many medical contacts and a high dependency on the exchange and physicians’ engagement in general. All parts of the SDM process, as systematically added to existing literature using Charles et al.’s [6] framework, were indicated as increasingly relevant within the rare disease field in practice. However, the status quo demonstrates that the SDM agreement itself was rarely depicted or respectively perceived. In summary, the patient-physician encounter was characterized by a balancing of trust and mistrust and high dependencies, including an often-reported stigmatization of patients as stimulants and many participants were involved. Commitment was high due to a pronounced engagement of those affected. Within the information communication process, the particular roles of “expert patients” or “lay experts” in the rare disease field came forth; physicians’ and patients’ perspectives were triangulated to validate these findings, and all items were verified in their importance.

First, this study analyzed the “relationship between the patient and physician” in Charles et al.’s [6] shared decision-making concept. The analysis revealed an imbalance between trust and mistrust in the rare disease field, whereby a trusting patient-physician relationship is a prerequisite for effective communication. Georgopoulou, Prothero, and D’Cruz [35], Dowell et al. [13], and the Royal Pharmaceutical Society of Great Britain, Merck, Sharp, and Dohme [14] all link a trusting relationship with a physician to many positive healthcare outcomes. Von der Lippe, Diesen, and Feragen [36] further deepen this analysis by describing a mistrust of doctors, and linking this to patients’ emotional reactions. Further, Ernstmann et al. [37] found a positive relationship between trust and patient enablement, validating our overall finding that shared decision-making is still infrequently used in practice in the rare disease field.

The interviews revealed that a trusting relationship can be nurtured by, on the one hand, medical experts’ transparent communication of rare disease knowledge, and on the other hand, their own engagement in the form of transfers or time invested. Literature notes transparent communication as one potential option among other tools, such as technical and interpersonal competence, physician agency, physician control, confidentiality, open communication, and disclosure [38] by systemizing the narrated items.

Aspects that undermine a trusting relationship and should be avoided include misdiagnoses, a lack of empathy, the lack of a constant contact person, the denying of treatments, and the “guinea pig” role in patients’ disease treatment when therapy options are scarce. These findings can shift the awareness to rare diseases that lack approved medications [39].

Further many patients report being placed in the “psychosomatic corner”, which hinders effective disease management. The acknowledgement of symptoms feeds into the patient-physician relationship Patients often report depending on a good physician, which they are “lucky” to have found. In this context, D’Elia [40] suggests a general listening concept for physicians to appreciate the entire possible spectrum of emotions that highlight doctors’ valuable roles as social figures.

Finally, interactions are also characterized by the many participants involved. Other physicians as well as family members can be added to the standard patient-physician interaction. They illustrate this linked network’s extent. Blöß et al. [41] verify these findings along the “diagnostic odyssey” of people suffering with rare diseases from the health expert’s perspective, and conclude that diagnostic procedures still need major improvements in the rare disease field, especially in classifying incredibly rare diseases. Alternatively, Dudding-Byth [42] describes the transfers and diagnostics processes that general practitioners face.

In a second step, we carved out the extent of “participation during the decision-making process.” Interviews suggest that rare diseases necessitate a broader extent of engagement, and consequently more time and effort. This is especially the case in times of diagnosis, as patients search for applicable therapy options and the initiation of medical treatment. People affected—either those who have lived with their diseases for a long time, and/or those who have chosen to settle with their diseases and take a more passive role—hand over their responsibilities to the doctor in a preferable “supervisory relationship.” Tofan et al. [43] describe this process in the agency theory context; in his eyes this is rational behavior, as one presumes physicians fully follow the Hippocratic tradition.

In contrast, reports also describe an active, engaged attitude within the healthcare system, in that patients may travel several hundred kilometers to find the right physician or specialized rare diseases center. The subsequent efforts are extensive, especially when young children are affected. Similarly, Dellve et al. [44] describe the high pressure parents face in the rare disease field.

Interviews confirm the particular relevance of “information exchange” in the rare disease field. The identified themes highlight the scarce professional healthcare knowledge on rare diseases, the ideal scope of health communications, as well as the people affected, who become “patient experts” or “lay experts” on their diseases. Literature often quotes this concept [26, 45], but this is also confirmed during this study. These interviews augment this concept and depict physicians’ difficult role, which shifts from a health information monopoly [46] to a new role as the sorter and structurer of available rare disease information.. Literature presents similar concerns from critics of the SDM model, who argue that most patients do not want to participate in such decisions, and revealing the uncertainties in medicine should be harmful. Further, while presenting all the potential risks and benefits across all treatment options is not feasible, the greatest concern is that increasing patient involvement in decision-making can lead to a greater demand for unnecessary, costly, or harmful medical procedures [47]. Therefore, the ultimate goal should be to quantify costs and benefits in a controlled health-economic setting.

Potentials exist for patients who enthusiastically collect data, either from the Internet or from many interactions with experts during their path through the healthcare system. However, this potential is still hindered at a communication level, as the people affected may be concerned with negative reactions in their interactions with professionals. Literature also often describes Internet-based health information searches. For example, McMullan [48] notes different access timeframes, and highlights the threat resulting from information sources of diverging quality [45, 49, 50].

Finally, the last item suggested by Charles et al. [6] is the decision-making agreement itself. This study’s interviews presented all forms of decision-making and agreement, and predominately described informed individual decision-making followed by paternalistic approaches. Although literature [7] suggests its increasing prominence, remarkably the SDM concept was rarely described. Further, SDM is difficult to identify, as the items overlap and are often difficult to grasp, as mutual acceptance and agreement can be stated at one point in time but may not hold [6]. Eliacin et al. [9] analyze patients’ definitions of SDM to discover that the understanding of the concept in practice is consistent with literature. However, study participants indicated that SDM is not limited to the models suggested in literature.

Paternalistic approaches were depicted as unavoidable—such as for example in emergency situations—. These findings have also been reported by Budych, Helms, and Schulz [51], although these authors do not provide a context in which these approaches were welcome. Baron, Reyher, and Stack [52] report positive outcomes from paternalistic approaches in a crisis situation. The patients in their study were treated paternalistically, and exhibited a higher responsiveness to suggestibility (p > .001), felt they could depend more on the physician, perceived him as warmer and more supportive (p > .01), and expressed fewer incidences of physiological distress compared with patients treated in an egalitarian manner.

Informed decision-making was also often described to highlight patients’ independence, and especially as they decide when to consult a healthcare professional and the extent to which patients consult their physician. Patients then decide whether to follow physicians’ decisions or change medical consultants. Thus, it is often assumed that patients prefer Internet-based health information, while concerns simultaneously exist that this would lead to extensive, costly healthcare [47].

In this context, the potential of the shared decision-making process shows that integrating both “lay expert” knowledge and efforts as well as professional knowledge can soften conflicts and strengthen the rare diseases network approach at its core. Well-conducted SDM enhanced reported satisfaction, understanding, and confidence in the decisions [53]. In this regard, strengthening the patient-physician relationship through SDM can potentially diminish within the field of rare diseases the highly relevant issue of doctor shopping. Others regard the process of decision-making in its entirety, and insinuate the importance of increased involvement of participants and the approachability of providers [560]. Finally, observational studies with patients suffering from hip and knee osteoarthritis showed they choose less expensive medical procedures when SDM was chosen as a decision-making tool resulting in a cost reduction of approximately 12 to 21% [54]. This leads to the assumption that cost-effectiveness can be further improved through the implementation of such concepts. Considering the potential, we suggest further health economic evaluations in the field of rare diseases to generate knowledge on the benefits of such approaches.

To our knowledge, the current study is unique in its approach: it complements Charles et al.’s [6] SDM model, and integrates perspectives from physicians and patients’ family members concerning this matter across a range of rare diseases. It also verifies findings from Budych, Helms, and Schultz [51], who also advocated for a conscious exchange of information in the rare disease field, although not within the context of a set framework. Moreover, they only focused on some rare diseases and the patient’s perspective. The underlying study covers all disease areas and integrates different perspectives to illustrate a broader picture and contribute to an advocated network approach at a micro-level in the healthcare system.

Patients’ perspectives at the macro-level are often systematically included by involving patient representatives. At the meso-level, it has been demonstrated that group decision-making tools can systematically integrate patient perspectives [21]. Thus, the question arises regarding which tool should be chosen to further implement SDM in practice. Literature suggests coaching programs or workshops [55], as well as decision boxes or tools led by nurses [11]. Scholl et al. [56] report the limited validity of SDM tools, and indicate why such concepts may not have been established in practice. Further, Elwyn et al. [5] describe criteria for a practical implementation to overcome these hurdles.

The patient participation concept has been integrated within Germany’s national plan for cancer care thus far, but has not yet become an integral part of the German rare disease national plan [20]. Following the model established by the national plan for cancerous diseases, patient perspectives can also become systematically integrated at the micro-health and economic levels. This can be accomplished by integrating SDM within various concepts for further development in the field, therefore ensuring and controlling its long-term application.

This study was conducted using qualitative interviews, and participants were encouraged to report their experiences with the healthcare system during their disease diagnosis and management, assuming that this reflects the actual subjective relevance in the decision-making process. The statements’ validity have been verified by triangulation. Therefore, only a limited number of patients, family members, and physicians could be interviewed, but the number of participants was sufficient as a base knowledge generation was achieved. The qualitative design contributes to theory generation by gathering relevant items and avoiding absolute numerical statements; results must be verified through a quantitative study to make further projections and/or obtain evidence.

Shared-decision making was not addressed as such within the interview guide. Participants were not directly asked about SDM, but rather indirectly about their experiences within healthcare systems and health management during the information-gathering process. This approach bears some risk, in that some interviews may involve situations in which SDM did not occur. One advantage of this approach is its identification of the actual perceptions of SDM, decreasing potential biases. By avoiding the SDM concept but focusing on informed health behavior, participants cannot be cued regarding how to answer the question to appease the researchers [57]. However, this also bears the risk that the concept may not impose itself in its full extensity, as it was avoided to pinpoint participants towards the concept, by directly asking for it.

The interview study was conducted in 2014, but several new rare disease centers have been subsequently established, and a national rare disease plan has been pushed toward implementation. However, the general structure of this matter has not changed to impact the German healthcare system.

Besides, we did not interview the treating physicians of the included patients and or their family members due to organizational restraints. The patients interviewed in the current study were predominantly female; in this context, Wyatt et al. [58] reveal that no gender specifications exist in decisional conflicts, patients’ satisfaction with the clinical encounter, or patients’ engagement at the point of encounter. Only an increased concordance between decisions and actions were described in encounters with female clinicians, while male patients demonstrated an increased concordance in the decision aid arm compared to the control arm (p = 0.05). Further, women more actively manage their healthcare status; for example, woman search more often for Internet-based health information [59].