Determinants of practice – barriers and facilitators
In accordance with the definitions used by the Integrated Checklist Determinants of Practice (ICDP), determinants are considered barriers if their presence impedes the implementation of or adherence to rare disease guideline(s). In contrast, they are considered facilitators if their presence promotes the implementation of or adherence to the rare disease guideline(s)(16). We considered a determinant as neutral when it could be interpreted as having a positive or negative impact.
The data synthesis produced 154 examples of reported barriers across 33 studies corresponding to 35 determinants in the ICDP and 49 examples of reported facilitators across 22 studies corresponding to 24 determinants in the ICDP. Figures 3 and 4 summarise identified factors with a comprehensive analysis in additional files [see Additional files 7 and 8].
The individual health professional factors domain was the most prevalent domain. Awareness and familiarity with the recommendation (determinant 2.1.2) was the most reported individual determinant of practice (Table 2). An additional file includes the contribution of individual studies to the determinants of practice [see Additional file 9].
Top 3 determinants identified in included studies
Top 3 barriers
Top 3 facilitators
Awareness and familiarity with the recommendation (n = 13)
Domain knowledge (n = 9)
Availability of necessary resources (n = 9)
Awareness and familiarity with the recommendation (n = 9)
Agreement with the recommendation (n = 8)
Accessibility of the recommendation (n = 5)
The quality of evidence, clarity and feasibility of the recommendation were the highest reported determinants in this domain potentially limiting the implementation of guidelines in the included studies. This included a lack of sufficient evidence(21, 27–30) and dependence on expert opinion(31). Clarity of guideline recommendations was considered to facilitate implementation through avoidance of jargon, lengthy and text-heavy guidance(28, 32); and clear indications for initiation(29). The included studies reported difficulties retrieving guidelines(33–35), poor dissemination(36) and insufficient translation to other languages(33).
Feasibility of recommendations influences the likelihood of implementation through sufficient time in clinical practice to implement recommendations(36–39), perceived suitability of recommendations for healthcare in practice(21, 30, 32, 36) and adaptability of the recommendations to different healthcare systems(29, 36). The accessibility of recommended interventions also presents an obstacle to implementation requiring sufficient technology access/fluency(32), access to investigations(34, 40) or alternatives being more accessible/feasible(38, 41).
Supporting information technology was cited as a facilitator to implementation of guidance by three studies through the use of mobile apps(42), guidelines applications(32) and electronic medical records(43). Insufficient digital resources impair guideline dissemination leading to under-utilisation(44).
Individual health professional factors
Awareness and familiarity with the recommendations were reported to influence implementation in a large number of included studies(27, 29, 31, 32, 34–37, 40, 42–54). This was present in studies involving health professionals working in specialist rare disease centres (n = 7, 17.9%) as well as health professionals not routinely working with rare disease patients (n = 19, 48.7%). All health professional study participants not routinely working with rare disease patients were in the same disease area or could be expected to implement the recommendations for rare disease patients. Low frequency of encountering patients with the specific rare disease was reported as a potential reason for limited awareness/familiarity(21, 31). Some studies included suggestions to improve awareness including education(35, 47), inaccessibility(42), regional network and awareness campaign(34).
Health professionals’ knowledge in the rare disease subject area (domain knowledge) limited the implementation of recommendations (21, 30, 35, 36, 39, 43, 46, 49, 55, 56). There was no further exploration of potential reasons although other related findings included a lack of specific training(21, 30, 39, 56) and insufficient skills(29, 55).
The perception of guidelines by health professionals may explain some variation in practice due to their agreement with using guidelines in clinical practice(29, 35) or agreement with the specific recommendations(29, 31, 35, 36, 38, 40, 44, 45, 48, 49, 55, 57, 58). Outcome expectancy impaired the implementation when it was perceived that the recommendation would not affect patient outcomes(31, 44) or that health professionals anticipated poor patient compliance(44, 49, 55), expected adverse outcomes(56) or that recommendations may cause anxiety to patients(38). Attitudes and emotions of health professionals were found to negatively affect adherence to recommendations in Sickle Cell Disease (SCD) care related to perceived opiate-seeking behaviour(27, 56, 59).
Health professional self-reported capability (efficacy) in managing patients with a rare disease limited implementation, non-rare disease specialists feel unable to provide care(42, 55), adhere to recommendations(35) or interpret outcomes of recommendations(44). This is potentially coupled with professionals’ failure or delays in prescribing recommended therapies representing professionals’ behaviour(49, 60).
Patient needs or demands of their healthcare providers were reported to potentially influence guideline implementation. These factors included the home-to-clinic distance for patients(37, 61), perceived additional costs to patients(31, 56, 61), inflexibility of clinic timing(61) and unrealistic patient expectations(30). Some studies suggested that implementation of recommendations could be supported through recognising patient needs and developing guidelines in a patient-centred method(21, 36, 43).
Patient knowledge and beliefs were recognised as a barrier through patients being unaware of the need to attend for recommended interventions(61, 62) and disagreement with the guideline recommendations(55). Patient and caregiver unawareness of the guidelines or disease knowledge was identified as a factor that may limit their engagement and potentially impeding guideline implementation(21, 32, 36, 37, 39).
Patient preferences for the location of their care(21), patient-focussed priorities(21, 30, 38) and avoidance of additional treatment burden(29) were reported to possibly limit the implementation of some recommendations. This could manifest in an adversarial manner through poor medication adherence(29, 56, 59) or low outpatient attendance(31, 55, 56). Authors suggest that engagement with patients and caregivers could increase adherence to guidelines(21, 32, 63). Denger et al suggest that patients adhering to recommendations may encourage other patients with the same disease to adhere to recommendations as a form of peer pressure. They also propose that recommendations that do not interfere with patients’ everyday life are more likely to have better adherence(21). Interpersonal relationships between health professionals and patients/caregivers have been suggested to influence patients’ motivation and willingness to participate in care(64). A patient’s motivation could then impede implementation for example people with SCD have described being demotivated to attend hospital for fear of being perceived to be drug-seeking and facing potential discrimination(56, 59, 61).
Some studies described poor communication and coordination between primary and secondary care potentially impeding the implementation of recommendations(37, 39, 42, 43, 64). These findings contrast those of Heutinck et al who reported that surveyed physicians were satisfied with the inter-professional communication about Duchenne Muscular Dystrophy patient care although reasons for this outlying study were not explored further(31). Referral processes were believed to be underlie some of these inter-professional communication difficulties including practical difficulties(43), lack of awareness of processes(46) or insufficient information on referrals(41). A notable absence in this domain was the role of influential people including opinion leaders and patient groups which have been recognised as potentially having a role in guideline implementation for more common diseases(65, 66).
Financial incentives and resources
Availability of resources and financial disincentives were found to impair guideline implementation. Specific reasons for the reduced availability of necessary resources and financial considerations included unavailable/insufficient therapies(31, 34, 64), health technology costs for the recommended intervention(21, 38, 64), inappropriate clinical spaces/schedules(37, 44), ancillary staff costs(31, 37), general costs(21, 29) and inadequate time(32, 37, 43, 55). More cost-effective alternative preparations may also impede adherence to recommendations in guidelines(39). Utrankar et al suggest financial incentives or penalties can improve the completion of guideline-derived objectives(32). Insufficient support staff was believed to impair the ability of clinicians to comply with recommendations through poor coordination(31), resource management(35) and delayed interpretation of results(55).
Capacity for organisational change
The capacity for organisational change was not a feature of the included studies. This could be related to the predominantly patient or health professional focus of these studies which would not involve in-depth assessment of organisational factors.
Social, political and legal factors
The main hurdle described by the studies at the social, political and legal level were payer or funder policies. Proposed mechanisms included insufficient insurance coverage(56), difficulties obtaining reimbursement(29, 36, 44, 55) and a failure to recognise therapy services as essential(21). It is important to recognise that these findings were predominantly reported in studies performed in the United States (n = 5, 71.4%). Masese et al described respondents believing that their ability to good care was not influenced by insufficient insurance coverage. However, they did not specifically enquire about whether it influenced their ability to follow recommendations or patients’ behaviours(43). Alternatively, an insurance-based healthcare system may promote greater guideline adherence as health professionals’ decisions may not be influenced by a limited healthcare budget as described by Benson et al as medical care is partly compensated by insurance companies(45). Regulatory oversight was considered a barrier to analgesic management of SCD related pain by Fearon et al but the responses did not explore this further(56).