Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium

Abstract

Background Late and misdiagnoses of rare disease patients are common and often result in medical, physical and mental burden for the patient, and financial and emotional burden for the patient’s family. Low rare disease awareness among physicians is believed to be one of the reasons for these late and misdiagnoses of rare disease patients. The aim of this study was to investigate how information and education could be tailored to the needs and preferences of physicians in Belgium to increase their rare disease awareness and support them in diagnosing patients with a rare disorder. Nine exploratory interviews with Belgian rare disease experts were performed in December 2016 to help the development of a questionnaire on information needs of physicians and their consulted information sources in rare disease awareness and diagnosis. This online questionnaire was then completed by Belgian physicians ( n = 295), including general practitioners (GPs), pediatricians and other specialists (i.e. neurologists, pediatric neurologists, endocrinologists and pediatric endocrinologists) during January and February 2017. Results Rare disease knowledge and awareness were the lowest among GPs and the highest among specialists. Interviewed experts indicated that physicians’ academic and continuous medical education should be focused more on “red flags” to increase rare disease attentiveness in daily clinical practice. GPs scored their academic education on rare diseases as insufficient but pediatricians and other specialists scored it significantly better ( p < 0.001). Even though GPs declared to only need information on rare diseases when having a rare disease patient in their practice, specialists indicated to need more rare disease information in general. Most physicians confirmed that they had specific information needs regarding rare diseases. Unlike specialists, the majority of GPs were unaware of information sources such as Orphanet. Conclusion In order to effectively support physicians in Belgium to diagnose rare diseases early, the academic medical education on rare diseases should be revised. Teaching methods should be focused more on casuistry and “red flags”. An Orphanet-like digital platform about rare disease symptoms, diagnostic tests and reference centers might be ideal to support correct and timely diagnosis. Electronic supplementary material The online version of this article (10.1186/s13023-019-1075-8) contains supplementary material, which is available to authorized users.

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners

“…Interestingly, internationally commissioned resources for rare diseases, Orphanet and OMIM, were not used, perhaps a reflection of a general lack of awareness. This echoes the findings in a survey of Belgian family practitioners (Vandeborne et al 2019). Although the question posed did not have a specific option for search engines (Google/ Bing), free text responses suggest that this is a popular option.…”

“…This is perhaps as one would expect as clinicians' knowledge and experience of online learning have increased in the years since the earlier studies of GP's preference. Vandeborne et al (2019) surveyed Belgian GP's rare disease educational needs. They highlighted the following areas: prevention and screening, patient referral, differential diagnoses and rare disease symptoms.…”

“…They highlighted the following areas: prevention and screening, patient referral, differential diagnoses and rare disease symptoms. Furthermore, their focus group suggested an up-to-date digital platform, freely available in the physicians' language of choice and validated by numerous rare disease specialists and experts as the most useful resource (Vandeborne et al 2019). Similarly in a UK survey of the information needs of UK GPs looking after patients with a rare disease, osteogenesis imperfecta, they suggested web-based resources linked to the EPR as the optimum platform (Zack et al 2006).…”

Education and information needs for physicians about rare diseases in Spain

“…The need to receive training on genetic counselling, diagnosis and treatment of RD, as well as information on web pages is clear, with scores very close to the maximum. A recent study by Vandeborne et al [30] showed that when participants were asked if they needed rare disease information, 83% of the GPs, 95% of pediatricians, 97% of There are some differences between primary care and hospital doctors. In general, the perceived training and knowledge of the resources available for the care or referral of patients is greater for hospital doctors.…”

“…These diseases are an important challenge that affects public health, the development of new diagnostic methods and therapies, and the clinical, social and health care that these patients require. A recurrent concern of these patients and their families is the limited knowledge that physicians have about it due to the high clinical complexity, which results in late diagnosis and misdiagnosis [6]. The average time between the onset of symptoms and the diagnosis of a patient with a rare disease has been estimated to be close to 6 years, while in the pediatric age it is longer than 15 months [7].…”