Recommendation 3

Recommendation 3. Engage in two-way knowledge sharing with colleagues and Centres of Expertise in and across jurisdictions as no one can be an expert in over 7,000 rare diseases.


Recommendation 3.1

Consult with and refer people living with rare disease to rare disease experts and Centres of Expertise, including internationally.

Why this is important:

The existence of over 7,000 rare diseases and small patient numbers per rare disease creates a unique need for global cooperation and infrastructure to ensure the best outcomes for people living with rare disease. This information sharing can occur between individuals, and across large institutions, both nationally and internationally.

A Centre of Expertise provides expert structures for the management and care of people living with rare disease,75 including access to multidisciplinary expertise in a single location. Although there is currently no consensus definition of a rare disease Centre of Expertise, commonly recognised features include:

  • Multidisciplinary expertise in the diagnosis and management of rare diseases
  • Provision of coordinated care
  • Involvement in research, collaborations, and data sharing
  • Involvement in education
  • Engagement with people living with rare disease to continually refine and improve the model of care.

A centre may specialise in one or a group of related rare diseases. Centres of Expertise can facilitate improved care, a shorter diagnostic journey, and easier care coordination. This is supported by a person-centred model to empower people living with rare disease in realising their right to the highest attainable standard of physical and mental health.

Importantly, Centres of Expertise can also assist external health professionals and people living with rare disease by:

  • Supporting high quality care, including timely diagnosis, appropriate treatments, and follow-up
  • Sharing and connecting to specialised knowledge
  • Facilitating peer support
  • Providing access to research opportunities, resources, data, and expertise.

How to progress Recommendation 3.1:

Identify Centres of Expertise in rare diseases through online portals, including the RARE Portal in Australia, Orphanet in Europe, the Genetic and Rare Diseases Information Center (GARD) in the USA, or from patient advocacy groups (see Appendix 2.2, 2.3). Reach out to these experts and organisations for advice and discuss appropriate referrals, in line with the preferences of people living with rare disease.

Individual rare disease experts, in the absence of a Centre of Expertise, can be identified by checking the author list of up-to-date management guidelines or reviews (such as GeneReviews articles; see Appendix 2.2) or by joining a community of clinical learning practice (see Appendix 2.2, 2.13 and Recommendation 8.1). For many rare conditions, the relevant expert may be overseas, and identified through an international patient advocacy group (for which they may be a medical or scientific advisor) or key publications in the medical literature such as GeneReviews articles. Most experts are happy to be contacted for general advice and to discuss research opportunities.


Recommendation 3.2

Facilitate systematic access to rare disease data collection, including access to rare disease registries and natural history studies.

Why this is important:

There is currently no nationally coordinated effort to collect rare disease data in Australia.9 Data for most rare diseases is not captured in either health information systems or registries and there is a need for a national strategy to collect, measure, build, and translate data.

A rare disease registry is a database set up to collect, store, retrieve, analyse, and disseminate information on people with a specific condition.76,77 These collections of standardised information are used for a variety of specific purposes.78 Natural history studies are pre-planned observational studies designed to track the course of a disease over time and identify demographic, genetic, environmental, and other variables that correlate with the disease’s evolution and outcomes.79

Registries and natural history studies may have various aims, including but not limited to:80

  • Revealing information about incidence and prevalence
  • Improving understanding of how a condition evolves over time
  • Describing epidemiology
  • Facilitating public reporting and knowledge building about the impact of rare diseases
  • Revealing differences in care practices and processes and the impact of both on people living with rare disease
  • Identifying best practice and target areas for future improvement
  • Linking participants to information on relevant clinical studies and trials
  • Promoting connections between and networks of stakeholders
  • Developing, evaluating, or improving therapies and other care interventions, such as providing evidence for management decisions.

Registries are especially critical for rare diseases with low prevalence and propensity for variation in treatment and outcomes.77 They can:

  • Provide health professionals and researchers with first-hand information about people with certain rare diseases, both individually and as a group, and over time
  • Be cost-effective instruments to support clinical trials and translational research to improve quality of care, quality of life, and survival
  • Act as support structures for people living with rare disease.

A key element of rare disease registries is interoperability with other registries through use of common standards for coding (classifying) rare diseases and symptoms, and for data storage and transfer. A further key element is the involvement of people living with rare disease in registry governance, adaptability, and sustainability. 81

The Recommendations for a National Approach to Rare Disease Data: Findings from an Audit of Australian Rare Disease Registries is a key document, led by Rare Voices Australia, that reports the findings from a recent audit of rare disease registries in Australia. It lists all Australian rare disease registries, how they are funded, what they do with their data, their impact on patient outcomes, and strategic recommendations and associated implementation priorities for a national approach to rare disease data (Appendix 2.14).81


How to progress Recommendation 3.2:

Educate people living with rare disease on the benefits of engaging with registries and natural history studies early in their health care journey. Facilitate enrolment by supplying appropriate information and resources to enable informed consent.

Information on registries and natural history studies can be found by contacting Centres of Expertise, national peak bodies, and research or advocacy groups. Considerable work has already been undertaken to further develop a growing understanding of registries and the national rare disease picture. This includes work on the National Alliance of Rare Disease Registries and the Recommendations for a National Approach to Rare Disease Data which can guide best practice (Appendix 2.14).81

Health professionals who diagnose a child with a rare disease can report the diagnosis to the Australian Paediatric Surveillance Unit at Kids Research82 and the International Network of Paediatric Surveillance Units (see Appendix 2.14).83 The RARE Portal (Appendix 2.2) contains links to rare disease registries, where available.11

Health professionals can also increase the visibility of rare diseases by entering, or advocating for the entry of, rare disease information and codes in electronic medical record data collection systems. Coding systems include the Systematized Nomenclature of Medicine Clinical Terms (SNOMED CT), ORPHAcodes, and the World Health Organization’s International Classification of Diseases (ICD) system (Appendix 2.15).84


Recommendation 3.3

Align care with best practice guidelines and evidence.

Why this is important:

Aligning with best practice can shorten the time to diagnosis and improve the quality of care both before and after diagnosis. The Action Plan recommends the use and development of clinical practice guidelines to support health professionals in identifying and diagnosing possible rare disease, as well as providing ongoing management.9


How to progress Recommendation 3.3:

In Australia, guidelines on some specific diseases can be found through Centres of Expertise, national peak bodies, research or advocacy groups, and key summary publications in the medical literature, searchable using medical databases such as PubMed. The RARE Portal links to both national and international guidelines, current evidence and best practice for a growing number of individual rare diseases, where available (Appendix 2.2).11

If no guidelines exist in Australia, international versions can be accessed. For example, individual disease pages on Orphanet2 link to clinical practice guidelines if they are available, and guidelines can be found for over 800 rare genetic conditions on the international point-of-care resource GeneReviews (Appendix 2.2).85

Additionally, education and capacity building sessions for health professionals are key to building awareness leading to successful implementation of existing evidence and guidelines (Appendix 2.13). Health professionals can participate in guideline development, for example, by engaging with rare disease and patient advocacy groups (Recommendation 8).


Indicators of good practice

• Knowing where to find expert advice for people living with rare disease
• Facilitating access to expert care
• Participating in the creation and dissemination of new knowledge and practices applicable to rare disease
• People living with rare disease feel they have access to the best possible expertise related to their rare disease
• Involvement of Australian or international rare disease experts
• Alignment of care plans with best practice guidelines, where available
• Interactions with rare disease and patient advocacy groups and sharing of relevant information with people living with rare disease
• Use of databases of rare disease expertise
• Referrals to Centres of Expertise
• Connection of patient data to clinical registries related to rare disease
For useful tools and supports to help implement Recommendation 3, see Appendix 2.2, 2.3, 2.13-2.15.