Category: RVA News

As you may be aware, the House of Representatives Standing Committee on Health, Aged Care and Sport (the Committee), Chaired by Trent Zimmermann MP and Dr Mike Freelander MP, has commenced a Parliamentary Inquiry into new drugs and novel medical technologies. The inquiry will include a particular focus on access to the treatment of rare diseases and conditions where there is high and unmet clinical need. The Committee is inviting organisations and individuals to make a submission addressing the terms of reference by Tuesday, 13 October 2020.

Guided by the National Strategic Action Plan for Rare Diseases (the Action Plan), Rare Voices Australia (RVA) has put together a suite of support materials to highlight the recommendations that have strong support for implementation in relation to the Terms of Reference (TOR) of the inquiry. We’ve included a guide for each TOR to highlight some of the common issues for the rare disease community – this is not an exhaustive list. These guides include excerpts from the Action Plan that cover recommendations in relation to the relevant TOR. Click here to access the guide for each TOR.

RVA Partners are encouraged to reach out to Louise Healy, RVA’s Stakeholder Engagement and Education Officer for support on 0455 053 877 or via email: [email protected]

Rare Voices Australia (RVA) has released this statement today, which has been developed in conjunction with our Scientific and Medical Advisory Committee following the COVID-19 press release issued by EURORDIS on 31 March 2020.

RVA is calling for the urgent development and use of critical care guidelines for people living with a rare disease to inform Australian hospitals and clinicians during the COVID-19 pandemic.

The statement has been sent to all State Chief Health Officers and will be distributed to all of RVA’s rare disease contacts at a state level, the Chief Medical Officer for the Australian Government, the Hon Greg Hunt MP’s office, the National COVID-19 Clinical Evidence Taskforce and other strategic partners.

RVA will seek to liaise accordingly to facilitate the development of any COVID-19 work that impacts the rare disease community.

As the COVID-19 pandemic continues, the team at Rare Voices Australia (RVA) shares our best wishes to those impacted personally and to the wider community during these uncertain times. We feel now is a good opportunity to distribute the below information.

Our Rare Disease Community

Members of our rare disease community may be particularly vulnerable to COVID-19. The team at RVA encourages the rare disease community to remain updated and aware of the often-changing response to COVID-19. 

Click here to read RVA’s full message regarding COVID-19. 

On Tuesday evening, Treasurer Josh Frydenberg announced the Morrison Government’s 2019-20 Federal Budget. As a peak body, Rare Voices Australia (RVA) attended the Department of Health 2019-20 Federal Budget Briefing in Canberra. In the lead-up to and beyond the election (reports indicate that an announcement is imminent), RVA will continue to work with all Parliamentarians including the Government, the Opposition and Independents, to address unmet rare disease policy needs within but also beyond the Health Portfolio (eg. the National Disability Insurance Scheme).

RVA will continue our critical stakeholder consultation and development of the National Strategic Action Plan for Rare Diseases. We are also working with The McKell Institute on Rare Disease and Access to Services, drafting a White Paper that will also inform part of the Action Plan.

Click here to read RVA’s full statement.

RVA currently has vacancies for volunteer directors on our Board. Board meetings are held via teleconference every 2 months and involve 1 to 2 hours of pre-reading. We are looking for people with skills and capabilities that will help RVA improve the lives of Australians living with a rare disease. In particular, we are looking for people who have experience in fundraising, PR and marketing, financial management, governance, law or leadership of not-for-profit organisations. If you have a passion for this area and believe you have skills to offer, we would love to hear from you.

If you’re interested in applying for an RVA Board position, please provide a CV and email it to: [email protected]

In 2014, an online survey was conducted to explore the healthcare experiences of Australian adults living with a rare disease. The survey was developed by the Western Australian Department of Health, together with Genetic Alliance Australia, the Genetic and Rare Disease Network, Genetic Support Network Victoria and Rare Voices Australia. In response to the survey invitation, 746 Australian adults living with a rare disease, or their carers, answered questions about their experiences of diagnosis, use of healthcare resources and involvement in research.

Read the report.

RVA would like to congratulate Alan Bittles for receiving an Order of Australia Medal for ‘For significant service to medical education in the field of genomics, as an academic and researcher, and to professional groups’.

“It came as a total surprise to me,” Alan said.

“I hadn’t a clue this was in the offing. I received an official letter on behalf of the Governor General in October saying I had been nominated for this award because of my work in genomics. I was flabbergasted.”

Read more.

On behalf of patients living with undiagnosed and rare diseases across Europe, North America, Australia and Japan, SWAN UK (the support group run by Genetic Alliance UK); the Wilhelm Foundation, EURORDIS (Rare Diseases Europe); Rare Voices Australia (RVA); the Canadian Organization for Rare Disorders (CORD); the Advocacy Service for Rare and Intractable Diseases’ stakeholders in Japan (ASrid); and the National Organization for Rare Disorders (NORD) jointly submit the following list of recommendations to address the specific needs of patients without a diagnosis. We urge all stakeholders to recognise undiagnosed patients as a specific population within the rare disease community.

Click here to read more.

The focus of the workshop was to visit nine short papers that talked to a range of issues concerning rare disease registries as well as exploring the benefits of a rare disease registry in Australia to people diagnosed with a rare disease.

Click here.

Rare Voices Australia (RVA) attended the Human Genetics Society of Australasia’s (HGSA) 40^th Annual Scientific Meeting in Hobart. The theme was ‘Integrating Genomics into Healthcare’ and there was certainly a ‘genomics’ buzz throughout the conference. There was also an important focus on rare disease registries. The HGSA conference program included a plenary session on the ‘Development and Establishment of Rare Disease Registries in Australasia’ which was run in collaboration with RVA and the Human Variome Project. RVA also facilitated a post conference Rare Disease Registry Workshop. Thank you to RVA’s Scientific and Medical Advisory Committee for their key role in developing and delivering these sessions. Here is an excerpt from the rationale presented to the HGSA by SMAC Chair Prof Alan Bittles:

“…The establishment of interactive National disease registries for specific disorders will facilitate more accurate and reproducible disease estimates, improved and accelerated disease diagnoses, and treatments that are notably more cost-effective. Access to comprehensive RD registries also will be of major importance in the identification of affected people resident in different States and Territories of Australia, and in New Zealand, thereby allowing the efficient design and testing of customized drug therapies for individual rare diseases.”

The plenary session included presentations from Prof John McNeil, A/Prof Yvonne Zurynski, Prof Adam Jaffe, Prof Matthew Bellgard, Prof Ingrid Winship and Prof Vince Harley.

The Rare Disease Registry Workshop was opened by RVA Executive Officer, Nicole Millis, who spoke about RVA, the RVA roadshow, the RVA Rare Disease Summit and Communique leading to the importance of data collection and registries.

The focus of the workshop was to visit eight short papers that talked to a range of issues concerning rare disease registries as well as exploring the benefits of a rare disease registry in Australia to people diagnosed with a rare disease. In preparation for their talks, the presenters were asked to consider/include the following:

• What are some of the challenges?

• How may we overcome such challenges?

• How can we ensure sustainability and ultimately bring benefit to all rare disease stakeholders but particularly the rare disease patients?

Thank you to all workshop speakers: Prof Alan Bittles (Perth), Prof Adam Jaffe (Syd), Prof John McNeil (Melb) A/Prof Robyn Wallace (Hob), Mr Scott Muirden (Syd), Prof Matthew Bellgard (Perth), Dr Paul Lacaze (Melb) and A/Prof Clara Gaff (Melb)

The benefits of a National Rare Disease Registry seems to be clear and from feedback collected by RVA, all of the various stakeholders, including Government, agree to the concept in theory. The dialogue seems to always fall down when discussion turns to the challenges of governance, platforms, implementation and sustainability – issues around who owns the data, how will it be shared, who will enter the data, maintain the registry, how will it be funded and many more questions.

It was acknowledged that the challenges were indeed difficult, however, participants were urged to not be deterred by this, and if necessary think outside the square and the existing structures. Focus on what we could do collectively, and where we could come together rather than simply focus on what was difficult or what could not be done. Participants were encouraged to consider patient-centred approaches and remain solution-focused.

There was active discussion from a range of stakeholder perspectives and a commitment to a patient-centred and collaborative approach. While at times the task seemed too challenging, participants persisted, determined to come away with some clear action items.

1.      Review existing Australian principles for clinical registries and customise for rare disease.

2.      Conduct an audit of all existing Australian rare disease registries, showing scope, purpose etc. This will be a very useful information seeking exercise but also potentially show areas of duplication and highlight opportunities for collaboration and improved efficiency.

This work will be driven by RVA’s Scientific & Medical Advisory Committee (SMAC) who will outline next steps and work plan.