An AusDoc survey has highlighted an opportunity for the pharmaceutical industry to help speed up the pathway to diagnosis and treatment of patients with rare diseases.
The vast majority of the 159 GPs who participated in an AusDoc rare diseases survey acknowledged a lack of confidence. One respondent stated: “Symptoms of rare disease can masquerade as more common conditions with no reliable features to differentiate them on clinical grounds[1].”
Another said: “It is difficult to keep across everything in medicine if not challenged regularly to diagnose it.”
The respondents were clear about their need for additional support.
Q: What additional support would help you identify rare diseases more effectively? Select ALL that apply[2].
| Improved diagnostic tools | 61.9% |
| Comprehensive clinical decision support systems | 59.5% |
| Access to specialist networks | 58.7% |
| Regular training and workshops | 47.6% |
They used free text to call for:
- Clinical guidelines and flowcharts;
- Case studies “in publications like AusDoc”;
- Symptom-based algorithms;
- Specialist presentations; and
- An accessible database of rare diseases.
The respondents ranked limited knowledge of specific diseases (74%) as their biggest challenge[3]. This was followed by:
- Lack of readily available guides on differential diagnoses (47.4%);
- Time constraints in practice (47.4%);
- Lack of access to diagnostic tools (46.6%); and
- Difficulty in accessing specialist support (40.0%).
Fewer than a third of respondents had ordered genetic tests to help with diagnosis, while 80% had consulted a specialist and 69% had consulted clinical guidelines. Just over 40% acknowledged searching for answers on Google[4].
When asked what additional support they need, most GPs asked for improved diagnostic tools and comprehensive clinical decision support systems. This was followed by calls for regular education and access to specialist networks.
A minority of respondents said they had participated in education within the past 12 months, with 33% acknowledging more than a year had passed since their last training and 28% saying they had never participated[5].
When asked how they preferred to learn about rare disease, the respondents had a clear preference for online information, including CPD education, KOL input and case studies[6].
To conclude, many respondents shared their thoughts and ideas. One GP said: “Detective work is the most interesting part[7].”
Another suggested that rare diseases should always be included among differential diagnoses at educational events.
A third suggested: “We need to keep reading and learning and sharing our knowledge and experience with others.”
Another doctor summed it up: “Good resources for diagnosis are very useful in this context. I would really value more education are rare diseases even if I may rarely encounter such a patient.
AusDoc solutions to educate GPs about rare diseases:
- Self-directed CPD learning modules
- Sponsored educational content, including Clinical Conversations videos, KOL Q&As and interactive algorithms
- Hosted web pages with diagnostic guides, disease information, videos and case reports.
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] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q5
[2] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q13
[3] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q11
[4] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q12
[5] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q16
[6] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q15
[7] Survey for General Practitioners on the Awareness and Management of Rare Diseases (2024); n = 159; Q17