Table 4.
Awareness and usefulness of rare disease internet resources
| Internet resource | N* | Aware of resource N (%) | Aware and used resource N (%) | Aware, used and found resource useful N (%) |
| Rare disease-specific resources | ||||
| APSU Study protocols, case definitions, website and report | 239 | 213 (90) | 128 (54) | 50 (21) |
| OMIM | 234 | 178 (76) | 118 (50) | 73 (31) |
| POSSUM | 233 | 157(67) | 64 (28) | 30 (13) |
| Orphanet Portal for Rare Diseases | 234 | 116 (50) | 66 (28) | 45 (19) |
| Orphanet Journal of Rare Diseases | 231 | 92 (40) | 43 (19) | 26 (11) |
| HGSA | 226 | 89 (39) | 25 (11) | 9 (4) |
| NORD, USA | 235 | 83 (35) | 26 (11) | 13 (6) |
| AGSA† | 225 | 50 (22) | 15 (7) | 7 (3) |
| Centre for Genetic Education (NSW Health) | 227 | 49 (22) | 28 (12) | 20 (9) |
| EURORDIS | 228 | 47 (21) | 15 (7) | 5 (2) |
| General resources | ||||
| PubMed, Medline, or similar | 240 | 240 (100) | 235 (98) | 168 (71) |
| Cochrane Library | 234 | 233 (100) | 208 (89) | 127 (61) |
| Up-To-Date | 239 | 233 (98) | 203 (85) | 147 (72) |
| BMJ Best Practice guidelines | 237 | 216 (91) | 136 (57) | 62 (46) |
| NICE, UK | 236 | 222 (94) | 182 (77) | 117 (64) |
| RACP website and CME Resources | 231 | 199 (87) | 107 (46) | 23 (22) |
| Centres for Disease Control National Guidelines Clearing House | 235 | 120 (51) | 49 (21) | 18 (37) |
*Number of respondents that answered this question.
†AGSA changed its name to Genetic Alliance Australia.
AGSA, Association of Genetic Support of Australasia; EURORDIS; CME, continuing medical education; European Organisation for Rare Diseases; HGSA, Human Genetics Society of Australia; NICE, National Institutes for Health and Clinical Excellence; NORD, National Organisation for Rare Diseases; OMIM, Online Mendelian Inheritance in Man; POSSUM, Pictures Of Standard Syndromes and Undiagnosed Malformations; RACP, Royal Australasian College of Physicians.