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.

Keywords: Diagnosis; Information needs; Orphanet; Physicians; Rare diseases; Red flags.

Fig. 1

Physicians’ self-evaluated level of rare disease knowledge. Response options for the question ‘How do you assess your own knowledge about rare diseases?’ ranged from 1 (‘Poor’) to 5 (‘Excellent’); 2 = ‘Substandard’, 3 = ‘Average’ and 4 = ‘Good’. Statistical analysis was performed with Mantel-Haenszel Chi² Test: *, significant different distribution of responses (p < 0.05) from this physician group compared to those from all other physician groups; **, significant different distribution of responses (p < 0.05) from SP adult compared to GP and PED while no difference with SP child was detected; ***, significant different distribution of responses (p < 0.05) from SP child compared to GP and PED while no difference with SP adult was detected. PED = pediatrician. SP adult = specialists treating adults (endocrinologists and neurologists). SP child = specialists treating children (pediatric endocrinologists and neurologists)

Fig. 2

Physicians’ self-evaluated level of rare disease awareness. Response options for the question ‘Are you aware of rare diseases?’ ranged from 1 (‘Absolutely not’) to 5 (‘Definitely, yes’); 2 = ‘Poorly aware’, 3 = ‘Moderately aware’ and 4 = ‘Well aware’. Statistical analysis was performed with Mantel-Haenszel Chi² Test: *, significant different distribution of responses (p < 0.001) from this physician group compared to those from all other physician groups; **, significant different distribution of responses (p < 0.05) from PED compared to GP and SP child while no difference with SP adult was detected; ***, significant different distribution of responses (p < 0.05) from SP child compared to GP and PED while no difference with SP adult was detected. PED = pediatrician. SP adult = specialists treating adults (endocrinologists and neurologists). SP child = specialists treating children (pediatric endocrinologists and neurologists)

Fig. 3

Physicians’ evaluation of the usefulness of their academic training for diagnosing rare diseases in daily practice. Response options for the question ‘How useful was your academic medical education for diagnosing rare diseases in daily practice?’. Full response options: very useful, I’m sure of myself when encountering rare diseases; sufficiently, I have got sufficient knowledge and training to diagnose rare disease patients; moderate, my academic medical training did not prepare me perfectly regarding rare disease diagnosis; insufficiently, I’d rather refer the patient to another specialist-doctor; not useful at all, the academic medical training did not prepare me concerning rare diseases. Statistical analysis was performed with Mantel-Haenszel Chi² Test: *, significant different distribution of responses (p ≤ 0.001) from this physician group compared to those from all other physician groups. PED = pediatrician. SP adult = specialists treating adults (endocrinologists and neurologists). SP child = specialists treating children (pediatric endocrinologists and neurologists)