Author: Sarah Cannata

Rare Voices Australia (RVA) has engaged Monash University clinical registry experts, Professor Susannah Ahern and Dr Rasa Ruseckaite, to undertake an audit of Australian rare disease registries, and databases available to Australian participants.

The National Strategic Action Plan for Rare Diseases (the Action Plan) identifies the key role that registries play in its Research and Data Pillar. The Action Plan was informed by an extensive multi-stakeholder consultation process. Click here to learn more about the rationale behind this work.

RVA has invited RVA Partners, known rare disease registry managers and RVA’s Round Table of Companies to take part in a short survey as part of this work. However, this survey is open to everyone who manages or has managed a rare disease registry that collects Australian data. If this applies to you, we would be grateful for your input.

To complete this survey, you will need the following information:

• The type of registry – clinician led/patient led/other
• The data your registry collects and from what jurisdictions or sites
• Who is responsible for maintaining and populating the registry
• How it is funded
• If your registry has ethics approval
• Registry governance
• Outcomes, barriers and enablers of the registry

With this information handy, it should take approximately 10 to 15 minutes to complete all the survey questions. If you wish to take part, please click on the link below. 

https://monash.az1.qualtrics.com/jfe/form/SV_d5SBlmp3Dp1MatU

If you have trouble accessing this link, please copy and paste it into your usual web browser.

Thank you for taking part. The results will be available in the first half of 2022.

As part of the Rare as One Project, The Chan Zuckerberg Initiative (CZI) is seeking information about registry interoperability. Responses are encouraged from patient communities, researchers, clinicians, health technology developers and a diverse range of experts to share knowledge and submit information that can help address similar challenges from different perspectives. If this is relevant to you, click here for more information.

Submissions close 30 November 2021. 

Rare Voices Australia will be making a submission, however, we note that registry interoperability is an important issue that would benefit from the breadth of knowledge of the rare disease sector.

The Standing Committee on Health, Aged Care and Sport (the Standing Committee) intend to table the Parliamentary Inquiry report into approval processes for new drugs and novel medical technologies in Australia this Thursday 25 November between 10am – 11am AEDT in Parliament. The Chair and Deputy Chair will speak to the report for five minutes each in the chamber after its tabling. Other Standing Committee members will also have an opportunity to speak to the report in the Federation Chamber in the following sitting weeks.

The Committee’s report will be available on the Standing Committee’s website approximately 15 minutes after the report has been tabled in the chamber.

Rare Voices Australia (RVA) thanks our RVA Partner organisations, as well as other key stakeholders in the rare disease sector, who lodged a Submission and participated in the Public Hearings earlier this year. As a sector, we have ensured that Australians living with a rare disease are central to this Parliamentary Inquiry. RVA looks forward to reviewing the Standing Committee’s report on Thursday.

Rare Voices Australia (RVA) is pleased to share a survey from one of our research partners seeking to understand consumer experiences with life insurance and genetic testing.

Led by experts at Monash University, this research aligns with the following actions in the National Strategic Action Plan for Rare Diseases:

Action 2.2.2: Develop policy that supports the implementation of diagnostic tools and tests.

Action 2.3.1: Ensure individuals and families known to have an increased chance of being carriers of genetic variants for rare diseases have equitable access to peri‑conception genetic testing and counselling, which can provide them with information about becoming pregnant and pregnancy.

Australian Genetics and Life Insurance Moratorium: Monitoring the Effectiveness and Response (A-GLIMMER)

Many people are concerned about the use of genetic information by life insurers. Researchers from Monash University are keen to understand the views and experiences of consumers. This includes people who have had genetic testing, as well as those who are eligible but choose not to have genetic testing. The findings of this research will contribute to a report to the Australian Government regarding the current regulation of life insurers, and your participation will assist with gathering critical data on the views and experience of consumers.

Please consider completing this important survey, whatever the experience you have had with life insurance and genetic testing. You can remain anonymous if you wish.

Feel free to forward this survey link to your family members who may have had or considered having a genetic test.

If you have any issues with accessing the links, copy and paste this link into your web
browser: https://redcap.link/aglimmer.consumer

At the beginning of the survey, you will find more information about the study and an explanatory statement.

For any queries regarding this research, please contact Jane Tiller, the research coordinator, on [email protected]

Limited data about rare diseases related to incidence and prevalence, natural history, epidemiology, impact, and treatment outcomes or a lack thereof, is driving a global emphasis on the value of rare disease registries.

Registries have the capacity to:

• Facilitate public reporting and knowledge building
• Reveal differences in care practices and process and the impact of both on patients
• Identify best practice and target areas for future improvement
• Reveal information about incidence, prevalence, epidemiology, impact, treatment outcomes, the natural history of diseases and much more

However, most rare disease registries collect different types of data and are independent of one another. Very few are meeting their full potential due to limited patient involvement, low levels of data sharing and interoperability, and a lack of consistent standards.

The need for a national approach to rare disease registries was emphasised during multi-stakeholder discussions at the registries workshop at Rare Voices Australia’s (RVA) 2018 National Rare Disease Summit. Since this time, RVA’s Scientific and Medical Advisory Committee (SMAC) has championed the need to progress this work. The National Strategic Action Plan for Rare Diseases (the Action Plan) identifies the key role that registries play in its Research and Data Pillar. The Action Plan was informed by an extensive multi-stakeholder consultation process. Recently, RVA was pleased to finally fund and oversee critical rare disease registries work in collaboration with an expert team at Monash University who have skills and knowledge in the development and operation of clinical quality registries.

Why is a national approach to rare disease registries so important?

The challenges of rare disease registries are multifaceted and complex. In line with the Action Plan, a national approach to rare disease registries is vital because it is not practical or economically feasible to create clinical quality registries for every rare disease. Global leaders in rare disease registries–EURORDIS, NORD and CORD–have jointly declared 10 key principles for rare disease registries. One of these principles is to ensure consistent use of a minimum set of common data elements. This aligns with Action 3.1.4 of the Action Plan, ‘Develop a national approach to person-centred rare disease registries to support national standards, best practice and minimum data sets’.

 Implementation 3.1.4.1. in the Action Plan outlines the first step to achieve this:

Develop a summary report of all existing Australian and relevant international rare disease registries, collecting information on:

• governance standards;

• management practices;

• data sets, including patient numbers, estimated incidence, prevalence and coverage; and

• classification systems used (for interoperability with other registries and health information

systems).

This information will support national coordination of rare disease registries and the establishment of minimum data sets, to provide a better understanding of who is currently being counted and aid identification of best practice.

Project Summary

To progress this work, RVA, together with Monash University registry experts, Professor Susannah Ahern and Dr Rasa Ruseckaite, are conducting an audit of Australian and relevant international rare disease registries. This rare disease registry audit project consists of the following parts:

Part 1: Scoping review of the academic and grey literature to identify all existing Australian rare disease registries. The aim of this component is to propose minimum data categories for rare disease registries in Australia.

The review is in progress.

Part 2: Survey and interviews with managers of Australian rare disease registries to collect metadata, including the number of patients in each registry, estimated incidence/prevalence, estimated coverage, and data elements stored. The aim of this component is to compare and contrast the registries, and to understand barriers, enablers, views of clinicians and consumers about rare disease registries in Australia. A sample of rare disease registries data custodians and registry managers will be drawn for qualitative interviews to identify their best practice models. 

The survey tool is currently under development. RVA will be inviting RVA Partner organisations, SMAC and the RVA Round Table of Companies to take part in this survey soon.

Part 3: Final report integrating all findings.

RVA will report more on this important work as it progresses. We are also pleased to welcome Professor Susannah Ahern to briefly speak about the project as part of the 2021 Virtual National Rare Disease Summit on 12 November.

This audit is a critical first step and will potentially help leverage other important work in the sector on this issue. We anticipate that this work will be completed in the first half of 2022. If you would like to learn more about this project, please contact RVA and stay tuned for updates.

Rare Voices Australia (RVA) was proud to attend the official launch of the first Parliamentary Friends of People with Rare and Undiagnosed Diseases in Western Australia (WA) on 19 October.

The Parliamentary Friendship Group sees the Hon Matthew Swinbourn MLC, Hon Donna Faragher MLC and Hon Stephen Pratt MLC come together to increase awareness about rare and undiagnosed diseases in WA.

We thank the WA Premier, the Hon Mark McGowan, and Leader of the Opposition, the Hon Mia Davies MLA, for attending the event and for their support of Western Australians living with a rare disease, as well as their families and carers. RVA also thanks Mr Swinbourn for championing the formation of this Parliamentary Friendship Group and for his ongoing support of people living with a rare disease. Additionally, we thank RVA’s Deputy Chair, Kane Blackman, Clin/Prof Gareth Baynam, a member of our Scientific and Medical Advisory Committee, and Andrew Bannister, RVA supporter and Rare Disease Day champion, for the key roles they have played in the formation of the Parliamentary Friendship Group. You can listen to the speech that Kane delivered at the launch event here.

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RVA looks forward to working with the Parliamentary Friendship Group on the issues that impact those living with a rare disease, their families and carers, including WA’s response to the priorities, actions and implementation steps outlined in the National Strategic Action Plan for Rare Diseases.

On 19 October 2021, the Parliamentary Joint Standing Committee on the National Disability Insurance Scheme (NDIS) tabled its final report into the Parliamentary Inquiry into independent assessments. Click here to access the report.

Rare Voices Australia (RVA) welcomes the report’s six recommendations which align with the Submission lodged by RVA into the Parliamentary Inquiry. The announcement from Minister for the NDIS, Senator the Hon Linda Reynolds CSC, that independent assessments would not proceed in their proposed form, is a win for Australians living with a rare disease, as well as their families and carers.

The report’s six recommendations address:

• Approaches to co-design and consultation
• Broader matters of financial sustainability
• Bulk-billed appointments with medical and allied health professionals

RVA thanks the 25 representatives from our RVA Partner organisations (rare disease support groups) who provided input during the development of RVA’s Submission. As the national peak body for Australians living with a rare disease, RVA will continue monitoring and engaging with the Government and the National Disability Insurance Agency (NDIA) to ensure the voices of people living with a rare disease are included in any future consultation around co-design and any proposed revised forms of assessment.

The Joint Standing Committee on the National Disability Insurance Scheme (NDIS) (the Committee) is conducting a new inquiry into the current Scheme implementation and forecasting for the NDIS. The Committee will focus on how the NDIS is implemented and funded, and what supports are or should be available for people with disability in addition to the NDIS.

The Committee has set two closing dates for submissions:

29 October 2021: any submissions received before this deadline will be considered if the Committee releases an interim report in late 2021.

28 February 2022: any submissions received before this deadline will be considered in the Committee’s final report.

Note: submissions received by 29 October may also be considered in the final report.

Click here to read the Terms of Reference.

Rare Voices Australia (RVA) has contacted the Committee Secretary who reassured RVA that stakeholders are welcome to lodge a submission ahead of the deadline that is most convenient for them. Interim reports generally contain few, if any recommendations and are often quite short. Stakeholders are welcome to lodge a short submission this year before organising a more detailed supplementary submission next year.

RVA’s advocacy

RVA will lodge a submission to meet both deadlines and we encourage those living with a rare disease who are NDIS participants, or whose community members are NDIS participants, to lodge a submission. This will ensure that the voices of people living with a rare disease, as well as their families and carers, are heard.

RVA’s 29 October 2021 submission will align with the National Strategic Action Plan for Rare Diseases (the Action Plan), which was informed by an extensive multi-stakeholder consultation process, as well as the Disability & Rare Disease: Towards Person Centred Care for Australians with Rare Diseases (Disability & Rare Disease) report. In developing the report, consultations with all stakeholders in the rare disease sector were held and a nationwide survey of people living with a rare disease and their carers was conducted. The Disability & Rare Disease report also informed the Action Plan.

We will engage with our RVA Partner organisations in December 2021 to inform RVA’s more detailed submission for the 28 February 2022 deadline.

RVA Partner organisations that are looking to lodge a submission ahead of the 29 October 2021 deadline are encouraged to reach out to RVA for mentorship support: [email protected]

Why this consultation is important for people living with a rare disease

There is clear cross over between many rare diseases and disability. Aspects of the National Strategic Action Plan for Rare Diseases (the Action Plan) specifically address the NDIS and the arbitrary and unhelpful line that is often drawn between medical issues and disability. In particular, the Action Plan highlights the need for coordinated and integrated care (see Appendix 1).

Since 2012, RVA has consistently highlighted the impact of disability on the lives of people living with a rare disease. In 2019, RVA commissioned the McKell Institute to deliver the report, Disability & Rare Disease.

Making a submission

Submissions should include the name of the inquiry: Inquiry into the future of the NDIS.

The Committee is seeking written submissions in electronic form submitted online or sent by email to [email protected] as an attached Adobe PDF or MS Word document. Alternatively, written submissions may be sent to:

Joint Standing Committee on the National Disability Insurance Scheme
PO Box 6100
Parliament House
Canberra ACT 2600