Recommendation 8. Engage in relevant continuing education, reflective practice, and quality improvement as knowledgeable and skilled health professionals can greatly improve outcomes for people living with rare disease.
Recommendation 8.1
Engage in continuing professional development on multiple aspects of rare disease care.
Why this is important:
Awareness of the needs of people living with rare disease, and approaches to support them, is an essential skill for all health professionals. However, rare diseases are not a focus of most training curricula. Engaging with tailored professional development can enhance awareness, understanding, and expertise, leading to improved outcomes for people living with rare disease.
“The first thing [my health professional] did when I had my initial consultation, and I explained my condition, was she went and researched therapies for [my symptoms] and specifically she researched my disease and … what the progression looks like… To me [that] is a dedicated professional with buy-in… and it’s something they may not come across every day, so why wouldn’t you want to be more educated on that…”
Competencies that are relevant to the care of people living with rare disease can be considered in two categories: those that are common across all fields of clinical care, including some competencies that need additional attention within the context of rare disease; and competencies that are specific to the management of patients with rare disease (see Figure 4).
Tailored Continuing Professional Development (CPD) activities are required to develop these competencies.
How to progress Recommendation 8.1:
CPD plans should be regularly reviewed and targeted towards skills or expertise that may help health professionals meet the needs of people living with rare disease. Relevant CPD activities may include:
- Participating in conferences specific to rare disease
- Engaging in peer-to-peer learning
- Rare disease-specific online learning
- Interprofessional and interdisciplinary learning
- Investing time in reviewing practice performance and measuring outcomes.
The Rare Disease 101 Australia module64 (Appendix 2.13) is an example of a highly relevant source of CPD. Other key areas that could be considered are trauma-informed care, mental health training, and strengths-based communication practice.
“I’d like to see [health professionals] go through an annual education in rare diseases …to give them … the skills to look at pathways and … professional conduct with rare disease patients and …how to connect them to rare medical specialist networks rather than just saying ‘it’s a little bit too hard, it’s out of my scope of work’”
Recommendation 8.2
Engage in reflective practice regarding your learning needs and care for people living with rare disease.
Why this is important:
Rare disease is often associated with a high degree of uncertainty, which can have an impact on health professionals and people living with rare disease.13 While developing these recommendations, people living with rare disease have shared that by not addressing some common challenges, health professionals are not providing them with high quality care.
Reflection, as an essential part of professional development, involves consciously thinking about and analysing our own and others’ experiences, actions, and decisions to gain insight, improve performance, and enhance personal and professional development. Reflective practice can play a significant role in maintaining the wellbeing of health professionals.
Reflection is particularly important for clinicians who treat people with rare disease because these conditions present unique challenges that may require innovative or unconventional solutions. It is particularly important to reflect on the lived experience of rare disease, and the range of challenges faced by patients and families, in order to be responsive to their needs.
“I wasn’t aware that I had a rare disease until an intern specialist told me that the hospital only had a few patients like me… Having a doctor who recognised me as a rare disease patient and one who was willing to go on that journey with me would have resulted in a very different illness experience and health outcomes.”
How to progress Recommendation 8.2:
CPD plans should include strategies to develop skills in listening to and acknowledging the illness experience from the perspective of people living with rare disease.140 As a means to develop their reflective skills more broadly, clinicians may choose to use models such as Kolb’s cycle of experiential learning.141
Health professionals should also reflect on the impact of uncertainty or case complexity on their own professional practice, identifying where additional support may be needed from colleagues or formal supports. Participation in peer-to-peer learning modules, such as a community of clinical learning practice, for example, Rare Disease Project ECHO® (Appendix 2.13) can be a useful approach to facilitate discussion, reflection, and improvement in practice.
For reflection to be truly meaningful, it must be accompanied by the development of concrete plans for next steps to address any areas of need.
Recommendation 8.3
Participate in quality improvement activities, including routinely collecting relevant data.
Why this is important:
Quality improvement involves continuously assessing and improving practices, and seeking feedback from patients, colleagues, and other stakeholders. Seeking such feedback will help to ensure health professionals are providing the best possible care for patients with rare disease. Feedback from these sources will augment routinely collected data and will often help to contextualise and interpret the data in a meaningful manner. The need for further quality improvement is highlighted by the following:
- A 2021 EURORDIS Rare Barometer survey, which showed patients with rare diseases rated their health care experience 2.5 out of 5—much worse than those with other chronic illnesses15
- A 2016 survey of parents in Australia and New Zealand, which found that a majority (54%) were dissatisfied with health professionals’ level of knowledge and awareness of their rare disease.142
How to progress Recommendation 8.3:
Options range from relatively simple methods to gather feedback from relevant parties to more formal processes such as ‘360-degree evaluation’. Some health contexts may have established mechanisms to collect patient experience and outcome data that individual clinicians can use. Reviewing performance and measuring outcomes are key areas in many college and society CPD requirements, for example, the Royal Australian College of General Practitioners (RACGP; Appendix 2.32).143
It is important to embed these feedback processes into routine practice to increase acceptability and gradually reduce any anxieties around them. Seeking feedback may be daunting for some practitioners, so mechanisms to support these processes need to be developed. Mechanisms also need to be developed to support clinicians in meaningfully addressing feedback within a culture that values feedback as a development tool. Data must be confidential and only used for the purpose for which it is collected.
Clinical audits are another important aspect of quality improvement. Health professionals should periodically review their patients who have existing rare disease diagnoses, including the need for additional support. Clinicians should also periodically review their patient cohorts to identify those who may have an undiagnosed rare disease to evaluate their needs, and tailor care accordingly.
Clinical audits can be supported using appropriate clinical codes as mentioned in Recommendation 4. Participating collaboratively in research and clinical trials that include measures of patient experience can also be a source of data to support quality improvement activities.
CPD enabling audits, such as those offered by the RACGP143 (Appendix 2.32) are an option when a more structured clinical audit is desired.
Indicators of good practice
 Actions | • Engaging in self-reflective practice to identify areas for professional development relating to rare disease and acting to develop these areas • Participating in regular evaluations of clinical care for people living with rare disease • Applying quality improvement principles to continually improve care of people living with rare disease |
 Outcomes | • People living with rare disease report that health professionals demonstrate a willingness to acknowledge the limitations of their knowledge and seek opportunities to learn about best practice care for their rare disease |
 Evidence | • Capture of rare disease information and codes in electronic medical record data collection systems • Uptake of rare disease-focused professional development and quality improvement |
