While eight in every hundred Australians has a rare disease, GPs lack confidence in identifying these patients, which may delay diagnosis and treatment[1].
Only one of the 159 respondents to an AusDoc GP survey felt completely confident about recognising rare disease symptoms[2]. Of the others, 14% didn’t feel at all confident and the rest felt only slightly or fairly confident.
Clinical geneticist Professor Sue White wasn’t surprised by the results. “Rare diseases are collectively common but challenging to diagnose and treat because they’re individually rare.”
When asked how often they had suspected a rare disease in a patient in the past five years, GPs responded[3]:
Frequency | Percent (%) of respondents |
Never | 10.0% |
Once or Twice | 45.3% |
Three to five times | 25.1% |
More than five times | 19.4% |
22% of respondents were aged 35-44, 17% were aged 45-54, 30% were aged 55-64 and 21% were older than 65.
Professor White, a spokesperson for the Murdoch Children’s Research Institute, said Rare Voices Australia and others had produced helpful resources for primary care clinicians (see links below).
However, pharmaceutical companies could help as well, with Professor White highlighting the industry’s good reputation among clinicians for educating GPs and others about new developments in oncology.
“That model could be applied to rare diseases as well. We need pharmaceutical companies in the mix, both for education and for clinical trial developments,” Professor White said.
Diagnostic delay
Timely and accurate diagnosis are critical for access to life-changing or lifesaving treatments, says a factsheet published by Rare Voices Australia
“Thirty per cent of Australian adults living with a rare disease are impacted by a diagnostic delay of more than five years, and almost half of these have received at least one misdiagnosis,” says Rare Voices.
When asked if they had ever missed the signs or symptoms of a rare disease or inadvertently delayed a patient’s diagnosis, 19% of GPs acknowledged they were aware of such a case[4].
One respondent explained they had not followed their instincts and delayed referral of a young female patient with soft-tissue sarcoma. Another commented: “GPs may see a rare condition only once in their career. We need to know the red flags.”
When asked to rank which rare diseases they most frequently consider, GPs responded[5]:
Disease | Percent of respondents |
Ehlers – Danlos Syndrome (EDS) | 60.3% |
Marfan Syndrome | 54.8% |
Cystic fibrosis | 47.3% |
Haemophilia | 40.4% |
Motor neuron disease | 39.0% |
Rare cancers | 34.2% |
Amyloidosis | 29.4% |
Huntington’s disease | 28.0% |
Cutaneous T-cell Lymphoma (CTCL) | 26.7% |
Duchenne Muscular Dystrophy (DMD) | 22.6% |
Spinal muscular atrophy | 21.9% |
Sickle cell | 19.2% |
Other (please specify) | 10.9% |
Aquagenic urticaria | 8.9% |
Dercum’s disease | 7.5% |
Kuru disease | 6.1% |
Methemoglobinemia | 5.5% |
X-linked hypophosphatemia (XLH) | 5.5% |
Lesch–Nyhan syndrome | 4.8% |
Gaucher disease | 4.1% |
Stoneman syndrome | 2.7% |
Progeria | 2.0% |
New treatments
A specific challenge is patients living with rare diseases that were once untreatable but for which there is a new treatment. They may not be in the care of a specialist and their GP may not be up to date with their disease.
“We certainly can’t expect GPs to know everything about every rare disease,” said Professor White. “But the clinical genetics and rare disease community are very motivated to do better about improving access to resources and approaches to rare disease. There are some principles that hold well across many rare diseases despite their heterogeneity.”
One of the issues is the pace of change, said Professor White. “When many GPs were in training, there would have been no treatment for almost all rare diseases. And now that’s not true anymore.”
What GPs do
When asked about their usual course of action when they suspect a rare disease, GPs responded[6]:
Action | Percent of Respondents |
Refer to a specialist | 84.8% |
Order specific diagnostic tests | 66.7% |
Seek a second opinion | 47.0% |
Monitor and observer | 21.2% |
Examples of Rare Disease resources:
- Rare Disease Project ECHO Clinical Community of Learning Practice – Learn More
- Think Rare by thinking Family GENES – Learn More
- Rare Disease 101 Australia: A free e-learning module – Learn More
Is your brand providing the critial information GPs need? Click here to find more about educational opportunities on AusDoc or contact us with your questions.
References
[1] Commonwealth of Australia. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available from: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf
[2] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q5
[3] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q7
[4] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q9
[5] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q6
[6] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q10