General Practice Care for Patients with Rare Diseases in Belgium. A Cross-Sectional Survey

Boffin, Nicole; Swinnen, Elfriede; Wens, Johan; Urbina, M.; Heyden, Johan Van der; Casteren, Viviane Van

doi:10.3390/ijerph15061180

Cited by 17 publications

(15 citation statements)

References 14 publications

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“…For 38% of patients their GP was involved in their diagnosis either by making the diagnosis directly or playing a major role in the diagnostic work up of the patient. This compares to a recent Belgian study which showed that, for 121 RD patients, 36% of the time the GP established the diagnostic referral [17].…”

Section: Discussioncontrasting

confidence: 76%

The role of primary care in management of rare diseases in Ireland

Byrne¹,

Turner²,

Marron³

et al. 2020

Ir J Med Sci

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Background 'Slaintecare' aims to address complex patient care needs in an integrated fashion with an emphasis on patientcentred, patient-empowered community care.Currently there is a lack of knowledge of the impact of rare disease management in primary care and of the information tools required by general practitioners to deliver integrated care for rare disease patients. Aims To complete a pilot survey to estimate the general practice clinical workload attributable to selected rare diseases and assess the use of relevant information sources. Methods A retrospective cross-sectional survey was carried out of general practice consultations (2013-2017) for patients with 22 commonly recognised rare diseases. Results Around 31 general practitioners from 10 Irish practices completed information on 171 patients with rare diseases over 3707 consultations. General practice-specific coding systems were inadequate for rare disease patient identification. Over 139 (81.3%) patients were adult, and 32 (18.7%) were children. Management of care was hospital and not primary care based in 63%. Those eligible for state-reimbursed care had a significantly higher median number of consultations (23 consultations, IQR = 13-37, or 5.8 consultations/year) than those who paid privately (10 consultations, IQR = 4-19, or 2.5 consultations/year) (p < 0.005).General practitioners had access to public information resources on rare diseases but few had knowledge of (35.5%), or had ever used (12.9%) Orphanet, the international rare disease information portal. Conclusions Both specific rare disease-specific coding and use of the relevant rare disease information sources are lacking in general practice in Ireland.

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Section: Discussioncontrasting

confidence: 76%

The role of primary care in management of rare diseases in Ireland

Byrne¹,

Turner²,

Marron³

et al. 2020

Ir J Med Sci

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“…Similarly, it was shown that also in other countries, i.e. Belgium or Ireland, where GPs tend to be the first caregivers for RD patients, establish a diagnostic referral and have access to information resources on RDs, few physicians possess adequate knowledge on such diseases and rarely use Orphanet or other reliable sources on the Internet [ 26 , 27 ]. However, this research also shows that physicians are aware of the importance of RDs, as well as of their knowledge deficits and unpreparedness in this regard.…”

Section: Discussionmentioning

confidence: 99%

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

Walkowiak

Domaradzki

2021

Orphanet J Rare Dis

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Background During their studies, future physicians are often taught that while evaluating a patient they should first consider a common diagnosis and not a rare one. Consequently, although most physicians will face the diagnosis or treatment of a rare disease (RD) at some point in their professional lives, many assume that they might never meet a patient with a specific RD. Moreover, many physicians lack knowledge about RDs and are not prepared for caring for RD patients. Thus, the aim of this paper was to assess the awareness of RDs among Polish physicians. Methods The study was conducted among 165 medical doctors taking their specialization courses at the Poznan University of Medical Sciences, Poland. The questionnaire assessed physicians’ knowledge about the number, examples, etiology and estimated frequency of RDs. It also checked the self-assessment of physicians competence in RDs, as well as their opinions about university curricula in this respect. Results The study shows that while most physicians lacked basic knowledge about the etiology, epidemiology and prevalence of RDs, many had also problems with separating RDs from more common disorders. Moreover, 94.6% of physicians perceived their knowledge on RDs as insufficient or very poor and less than 5% feel prepared for caring for patients with RDs. Simultaneously, while over 83% of physicians believed that RDs constitute a serious public health issue, 17% were of the opinion that mandatory courses on RDs are not necessary in medical curricula and 6.7% were not interested in broadening their knowledge of such diseases. Most respondents derived their knowledge on RDs from university courses, scientific literature and research, as well as from the Internet. Conclusion Since the study shows that there is a urgent need to fill the gap in physicians’ knowledge on RDs, it seems advisable that extra courses on these diseases should be added to medical curricula and physicians’ postgraduate training. Furthermore, as the Internet is the main source of information on RDs, e-learning programs and courses for all medical professionals should be organized.

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“…Apparently, there was a major mismatch between the recommendations of the 5 guidelines with the specific care context of the assessor. Thus, the medical needs both of treating physicians and patients must be explored and aligned with the guideline recommendations, as has been performed for other orphan conditions (Boffin et al 2018). Importantly, our evaluation did not evaluate the recommended therapies in the respective guideline but instead focused on their methodological quality.…”

Section: Discussionmentioning

confidence: 99%

Guidelines for uveal melanoma: a critical appraisal of systematically identified guidelines using the AGREE II and AGREE-REX instrument

Steeb

Hayani

Förster

et al. 2020

J Cancer Res Clin Oncol

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Purpose Clinical practice guidelines provide recommendations for the management of diseases. In orphan conditions such as uveal melanoma (UM), guideline developers are challenged to provide practical and useful guidance even in the absence of high-quality evidence. Here, we assessed the methodological quality and identified deficiencies of international guidelines on UM as a base for future guideline development. Methods A systematic search was carried out in guideline databases, Medline and Embase until 27th May 2019 for guidelines on UM published between 2004 and 2019. Five independent reviewers assessed the methodological quality of the identified guidelines using the instruments "Appraisal of Guidelines for Research and Evaluation II" (AGREE II) and AGREE-REX (Recommendation EXcellence). Descriptive analysis was performed and subgroup differences were explored with the Kruskal-Wallis (H) test. The relationship between the individual domains and items of the instruments were examined using Spearman's correlation. Results Five guidelines published from 2014 to 2018 by consortia of the United States of America, Canada and the United Kingdom (UK) were included. The highest scores were obtained by the UK guideline fulfilling 48-86% of criteria in AGREE II and 30-60% for AGREE-REX. All guidelines showed deficiencies in the domains "editorial independence", "applicability", and "recommendation". Subgroup differences were identified only for the domain "editorial independence". Conclusion The UK guideline achieved the highest scores with both instruments and may serve as a basis for future guideline development in UM. The domains "editorial independence", "recommendation", and "applicability" were identified as methodological weaknesses and require particular attention and improvement in future guidelines.Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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General Practice Care for Patients with Rare Diseases in Belgium. A Cross-Sectional Survey

Cited by 17 publications

References 14 publications

The role of primary care in management of rare diseases in Ireland

The role of primary care in management of rare diseases in Ireland

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

Guidelines for uveal melanoma: a critical appraisal of systematically identified guidelines using the AGREE II and AGREE-REX instrument

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