Most GPs (73%) did not know any specific rare disease information sources (Table
2). One in five GPs (22%) was familiar with Orphanet, as opposed to a clear majority of pediatricians (85%), adult specialists (75%) and pediatric specialists (89%). Apart from Orphanet, pediatricians and specialists also knew the Orphanet Journal of Rare Diseases, Belgian websites on rare diseases
www.weesziekten.be/
www.maladiesrares.be and EURORDIS. When participants were asked if they needed rare disease information, 83% of the GPs said ‘Yes’ (Additional graphs: figure III.XVI). Also 95% of pediatricians (PED), 97% of adult specialists (SP adult) and 100% of pediatric specialists (SP child) indicated to have information needs on rare diseases. The distribution of GPs’ answers was statistically different from the other participants (
p < 0.001). In addition, 39% of GPs, 19% of pediatricians, 13% of adult and 15% of pediatric specialists indicated to only need information when they treat a rare disease patient themselves. One in five GPs (22%) and 15% of pediatricians and adult specialists admitted not to know where to find correct rare disease information. Sixteen percent of GPs answered ‘No’ to the question ‘Do you need information about rare diseases?’ mostly arguing that they do not have time left to dedicate to rare diseases. Less than 5% of pediatricians and specialists answered that they do not need rare disease information. When participants were asked if they had information needs regarding ultra-rare diseases, 77% of the GPs said ‘Yes’ (Additional graphs: figure III.XVII). Amongst pediatricians, 90% indicated to have information needs about ultra-rare diseases, amongst adult specialists 96% did and 93% of pediatric specialists. Amongst pediatricians and adult and pediatric specialists, 19, 27 and 26% indicated to be interested in information about ultra-rare diseases but only when they treat such a patient, compared to 46% of GPs. Around 40% of pediatricians and specialists scored their information needs regarding rare diseases equal to the needs regarding ultra-rare diseases, compared to 18% of GPs. More GPs (23%) indicated not to need information about ultra-rare diseases compared to pediatricians and specialists (10, 4 and 7% resp.). The distribution of GPs’ answers was statistically different from the other participants (
p < 0.05). Next, participants were asked what kind of rare disease information they needed or wanted to receive. The information subjects GPs chose most were prevention and screening of rare diseases (46%), patient referral (63%), differential diagnosis (64%) and rare disease symptoms (71%) (Additional graphs: figure III.XVIII). These four subjects were also the ones most selected by pediatricians (67, 65, 86 and 90% resp.). Of pediatricians, 16% indicated that they only wanted to receive information about rare pediatric diseases. Most of specialists treating adults and children also indicated to need information on prevention and screening (58 and 63%), disease symptoms (75 and 74%) and differential diagnosis (83 and 74%). Furthermore, specialists indicated to need information about orphan drugs (50 and 41%) and rare disease treatment (42 and 33%). Two in five specialists indicated only to need information about rare diseases that relates to the specialism they are working in, i.e. endocrinology or neurology (44 and 41% resp.). Whether or not rare diseases are curable today, does not influence the information needs of participants, as only 1% of GPs, 6% of pediatricians, 4% of adult specialists and 0% of pediatric specialists selected to need information only about rare diseases that are curable. Altogether, participants seemed less interested in information about fundamental and translational research, physicians diagnosing rare diseases and their clinical cases, how to deal with rare disease patients and patient journeys (Additional graphs: figure III.XVIII). Finally, participants were asked how they wanted to receive rare disease information. Information channels selected by the majority of all participants were continuous training sessions (GPs 60%, PED 76%, SP adult 79% and SP child 59%) and experts or centers of expertise (GPs 51%, PED 57%, SP adult 52% and SP child 63%) (Additional graphs: figure III.XIX). The response option ‘Congresses, symposia and guest lectures’ was selected by the majority of pediatricians (80%) and specialists (77 and 85%) but not by the majority of GPs (34%). The majority of pediatricians wanted to receive rare disease information through physicians’ associations (53%) or during the academic specialist training (55%). Less popular information channels were online videos, brochures and information leaflets, journals, magazines and publications, information kits, mobile applications, e-mails, websites or digital platforms, advertising campaigns, basic medical academic training, orphan drug manufacturers, patients, patients’ associations and sickness funds.
Table 2
Results for the question: ‘Which of the listed organizations, search engines and information sources about rare disease do you know?’
RaDiOrg | 1% | 5% | 8% | 19% |
RDB | 1% | 5% | 8% | 15% |
EURORDIS | 0% | 9% | 10% | 26% |
Orphanet | 22% | 85% | 75% | 89% |
Global Genes | 1% | 8% | 4% | 11% |
FindZebra | 1% | 1% | 8% | 7% |
| 5% | 8% | 15% | 11% |
NORD | 0% | 9% | 8% | 4% |
ICORD | 0% | 2% | 6% | 7% |
Orphanet Journal of Rare Diseases | 2% | 37% | 33% | 78% |
None of the above | 73% | 14% | 19% | 7% |