Joint Standing Committee on the National Disability Insurance Scheme – Participant Experience in Rural, Regional and Remote Australia


The Joint Standing Committee on the National Disability Insurance Scheme (NDIS) has initiated a new inquiry into the NDIS participant experience in rural, regional and remote Australia. Read the terms of reference for the inquiry on the Joint Standing Committee on the NDIS’ website.

People living in regional, rural and remote areas are identified as a priority population in the Australian Government’s National Strategic Action Plan for Rare Diseases.


The Joint Standing Committee on the NDIS is inviting those interested to lodge a written submission to the inquiry by 23 February 2024. You can learn more about making a submission on the Joint Standing Committee on the NDIS’ website.

Rare Voices Australia (RVA) will be lodging a Submission as the national peak body for Australians living with a rare disease. RVA Partner groups/organisations are welcome to send through input and examples from their community for RVA to consider including in our Submission. Please send all input to [email protected] by COB 16 February 2024.

Health Technology Assessment Policy and Methods Review: Consultation 2 Commences


As part of Medicine Australia’s five-year Strategic Agreement with the Federal Government, an independent review of Australia’s health technology assessment (HTA) system is being undertaken – the first of its kind in nearly 30 years.

HTA reform will ensure that Australia’s HTA system evolves to keep pace with advancements in medical technologies and delivers faster access to new medicines for patients.

Next steps

The HTA Policy and Methods Review Reference Committee has been considering stakeholder feedback collected through Consultation 1. This feedback, in addition to HTA expert papers, has been used to develop an Options Paper detailing options for reform. The Options Paper will be workshopped with stakeholders through a second round of public consultation (Consultation 2).

Consultation 2 opened for submissions on 22 January 2024 with online and in-person workshops planned to take place throughout February 2024.

As the national peak body for Australians living with a rare disease, Rare Voices Australia will continue participating in the consultation process throughout the Health Technology Assessment Policy and Methods Review.

The Options Paper for Consultation 2 is now available via the Office of Health Technology Assessment’s (OHTA) consultation hub.

New Government Consultation on the Use of Genetic Testing Results in Life Insurance Underwriting


In November 2023, Assistant Treasurer, the Hon Stephen Jones MP, announced a national consultation on the issue of genetic discrimination by life insurers (the Consultation). Genetic discrimination has been the subject of significate debate in recent years due to concerns that people may decline genetic testing for fear that it could impact their access to affordable life insurance. As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) welcomes the Consultation announcement.


Announcement of this consultation is a response to the final stakeholder report from the 2023 Australian Genetics & Life Insurance Moratorium: Monitoring the Effectiveness & Response (A-GLIMMER) study, which aimed to monitor the impact and effectiveness of the Australian Genetic and Life Insurance Moratorium (the Moratorium) on the use of genetic test results in life insurance underwriting in Australia. Life insurance body, the Financial Services Council, introduced the Moratorium after a report by the Parliamentary Joint Committee on Corporations and Financial Services expressed concerns that the use of genetic tests in underwriting life insurance was discouraging participation in health research projects involving genetic testing. The aim of the Moratorium was to enable self-regulation and restrict life insurers‘ use of genetic test results up to certain policy limits.

In consultation with consumers, patients, health professionals and financial advisors, the A-GLIMMER research project identified that the Moratorium ‘continues to discourage consumers from participating in both established clinical genetic testing, which may identify a need for potentially life-saving treatment, and medical research involving genetic testing’. In their final report, the researchers conclude that the Moratorium is inadequate to address and prevent genetic discrimination in life insurance. 

As a partner organisation on the A-GLIMMER study, RVA contributed rare disease policy expertise, including feedback on survey design, dissemination of surveys and feedback on the final stakeholder report.

Download the final Stakeholder Report

Australian Government Consultation Paper

The Australian Government’s Consultation Paper on the use of genetic testing results in life insurance underwriting presents 3 options for regulatory intervention:

Option 1. No Government intervention.

Option 2. Legislating a ban.

Option 3. Legislating a financial limit.

Rare Voices Australia’s Position

RVA will submit a response to the Consultation advocating for Option 2, legislating a total ban to prohibit life insurers from requesting or utilising any adverse genetic testing results to inform their underwriting calculations. RVA’s position is informed by the foundation principles in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), ‘person-centred’ and ‘equity of access’. Our position also aligns with Action 2.4.1 in the Action Plan, ‘Develop policy that supports people living with a rare disease to have timely and equitable access to new and emerging health technologies’.

With at least 80% of rare diseases having genetic origins, the implications of genetic discrimination for people living with a rare disease and their families are far reaching. RVA encourages all relevant rare disease stakeholders to engage with this consultation and focus your responses on what is relevant from the perspectives of individuals, families and members of your communities. Without this change for strong protections, RVA is concerned that Australians living with a rare disease may continue to face genetic discrimination.

Submissions to the Consultation

Submissions to the Consultation are being accepted up until 31 January 2024. To read the Consultation Paper and for more information about the options for regulatory intervention as well as the submission guidelines, please visit the Australian Government’s The Treasury website.

If you would like to send an email to government regarding this consultation without writing your own submission, you may wish to send a message using this link.

Launched: Involve Australia’s Guidelines for Community Involvement in Genomic Research


On 6 December 2023, the Involve Australia project, coordinated by Australian Genomics, launched Guidelines for Community Involvement in Genomic Research (Guidelines). Involve Australia has engaged with the public to develop community involvement guidelines for genomic researchers.

The Guidelines were developed in partnership with patient support and advocacy groups, Indigenous community members, patients and carers, interested members of the public, genomic researchers and clinicians. RVA is also pleased to see Involve Australia’s plan for evaluating implementation of the Guidelines over the next couple of years.

Rare Voices Australia’s Contribution

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) provided detailed feedback into the draft Guidelines, including the need for a summarised version for quick reference by time poor researchers. The final version of the Guidelines has been formally endorsed through RVA’s Endorsement Criteria.

From RVA’s perspective, involving patients and communities in the development and execution of health and medical research:

  • Increases the relevance of research in addressing community needs;
  • Supports identification of real-world research priorities;
  • Increases awareness, support and public confidence in research; and
  • Improves translation of new knowledge into clinical practice.

How to Use the Guidelines for Community Involvement in Genomic Research

RVA encourages all genomic researchers to refer to the Guidelines to involve community members effectively and meaningfully in their research. Many of the Guiding Questions for Researchers in the supporting document for the Guidelines will also be useful to researchers in other fields.

The work of the Involve Australia project directly aligns with the following areas of the Australian Government’s National Strategic Action Plan for Rare Diseases:

  • Critical enablers: The need for high-quality, comprehensive collection, and effective use, of rare disease data; and multi-stakeholder involvement and engagement
  • Priority 3.3 under Pillar 3, Research and Data: Ensure research into rare diseases is collaborative and person-centred.

For more information and to download a copy of the Guidelines or the quick guide to involving community in research, please visit the Australian Genomics website.

Download the Guidelines

Download the Quick Guide

New Education Materials for the Aboriginal and Torres Strait Islander, Multicultural and Regional, Remote and Rural Communities


To assist with implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases, Rare Voices Australia (RVA) received $1 million over three years from 1 July 2021 to 30 June 2024 to lead the collaborative development of the Rare Awareness Rare Education (RARE) Portal and other education activities. In addition to facilitating the extensive multi-stakeholder consultation process to progress RARE Portal development, these funds have enabled RVA to consult with peak bodies and other experts to produce several education materials, including resource collections and webinars for the following priority populations identified in the Action Plan:

  • The Aboriginal and Torres Strait Islander community
  • The multicultural/culturally and linguistically diverse community
  • The regional, remote and rural community

Resource collections and reports

Resource collections, reports and webinars for each priority population listed above can be downloaded from RVA’s Online Education Portal via the links below.


These webinars are intended for peak bodies, organisations, and health care professionals who work with the above communities, RVA’s Partner groups/organisations, and rare disease groups/organisations that wish to engage with the priority populations listed above.

Please note: you will need to register on RVA’s Online Education Portal if you have not already done so to watch the webinars.


RVA thanks the National Aboriginal Community Controlled Health Organisation (NACCHO); the Australian Alliance for Indigenous Genomics; the Federation of Ethnic Communities’ Councils of Australia (FECCA); the Australian Multicultural Health Collaborative; and the National Rural Health Alliance for consulting with RVA to inform these education materials.

November Health Ministers’ Meeting and Newborn Bloodspot Screening


On 10 November 2023, Health Ministers from all Australian governments met to discuss a range of important issues for Australia’s healthcare system. The purpose of these Health Ministers’ Meetings is to provide leadership and facilitate joint decision making on health issues of national importance.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) welcomes the post-meeting Communique regarding several issues relevant to Australians living with a rare disease, including newborn bloodspot screening (NBS). Regarding the expansion of the NBS Program, the Communique reads:

“Ministers agreed on the Newborn Bloodspot Screening decision-making pathways and priority actions. Ministers agreed to consider adding more conditions to the screening program, and that States and Territories will work with the Commonwealth to ensure the program is sustainable.”

RVA is encouraged by the heightened awareness of the profile and importance of NBS and the ongoing commitments made between the Commonwealth, states and territories. Read the Communique in full on the Department of Health and Aged Care’s website.

New Medical Research Future Fund (MRFF) Grant Opportunities Relevant to Rare Disease


Several Medical Research Future Fund (MRFF) research grant opportunities have recently opened that are relevant to rare disease. The opportunities are listed below.

Medical Research Future Fund Clinical Trials Activity Grant Opportunity

In this new round, the Health and Medical Research Office has recognised the need to fund novel clinical trial designs, including n of 1 clinical trials, which are important for the trialling of new and novel therapies for rare disease. Rare disease is a focus of streams 1 and 2 in this grant round. The minimum date for this grant closes May 2024.

Visit GrantConnect for more information.

Medical Research Future Fund Data Infrastructure Grant Opportunity

This opportunity looks to support the creation or extension of national research data infrastructure to support world-class health and medical research in Australia. It could be leveraged by rare disease researchers with expertise and interest in a systematic and streamlined approach to rare disease data in line with the Recommendations for a National approach to Rare Disease Data launched in July 2023.

Visit GrantConnect for more information.

Medical Research Future Fund – EPCDRI & PHCRI – 2023 Multidisciplinary Models of Primary Care Grant Opportunity (Streams 1, 2 and 3)/2023 Multidisciplinary Models of Primary Care (Stream 4)

This opportunity may be leveraged to address the broader rare disease workforce issues highlighted in the National Strategic Action Plan for Rare Diseases and the Metabolic Workforce White Paper and Strategy. The minimum date for these grants closes April 2024.

Visit GrantConnect for more information about the 2023 Multidisciplinary Models of Primary Care Grant Opportunity (Streams 1, 2 and 3).

Visit GrantConnect for more information the 2023 Multidisciplinary Models of Primary Care (Stream 4).

Newborn Bloodspot Screening Update – October 2023


As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) welcomes the recent announcements from the Department of Health and Aged Care regarding conditions to be added to, or evaluated for, newborn bloodspot screening (NBS) panels. We acknowledge the RVA Partner groups/organisations and their communities that have persistently pursued these outcomes.

The Medical Services Advisory Committee Recommends Screening for X-linked Adrenoleukodystrophy

On 12 October, the Public Summary Document for the Medical Services Advisory Committee’s (MSAC) consideration of X-linked adrenoleukodystrophy (X-ALD) for NBS was released with MSAC recommending that state NBS programs screen all babies for X-ALD. RVA congratulates the X-ALD community for their persistence in continuing to advocate for this outcome. A funded, transparent and sustainable assessment process of conditions for NBS has been a key driver for RVA in our ongoing advocacy for improvements to newborn screening.

The Department of Health and Aged Care Announces Additional Conditions to Be Referred to the Medical Services Advisory Committee for Evaluation

The Department of Health and Aged Care has announced that Pompe disease, Mucopolysaccharidosis type I (MPSI) and Mucopolysaccharidosis type II (MPSII) have been referred to MSAC for assessment following technical advice. RVA will provide information when opportunities for consumer comments can be provided on these assessments. Congratulations to our RVA Partner groups/organisations that have worked tirelessly towards this result.

If you have any specific questions about Australia’s NBS programs, you can email: [email protected].

Evaluation of the Medical Research Future Fund Clinical Trials Activity Final Report


The Health and Medical Research Office’s (HMRO) Performance and Evaluation Section within the Department of Health and Aged Care (the Department) recently asked Rare Voices Australia (RVA) to share their final report on the evaluation of the Medical Research Future Fund Clinical Trials Activity (MRFF-CTA) grant opportunity (Evaluation Report) with the rare disease sector. The report was prepared by the Institute for Evidence-Based Healthcare, Bond University Australia.

As the national peak body for Australians living with a rare disease, RVA’s work is non-disease specific and is based on the commonalities of rare disease. Our advocacy focuses on rare disease policy, processes and systems. RVA advocates for all rare disease communities.

RVA commends the Department for commissioning this work and encourages any evaluation of the use of health and medical research funding in Australia. The Evaluation Report highlights several important strengths and gaps in how MRFF-funded clinical trials are conducted and how they perform against national and international comparators. However, important gaps in clinical trials for rare disease were not identified in the Evaluation Report. Both RVA and the HMRO recognise that rare disease research is not being funded to the extent anticipated. These gaps are discussed in detail below.

Download the Evaluation of the MRFF-CTA Final Report at the Department Health and Aged Care’s website.

Rare Voices Australia’s Response to the Evaluation Report

RVA wrote a letter to the Department to encourage any future evaluation of funding for rare disease research to include broader stakeholder consultation, including consultation with RVA as the national peak body for Australians living with a rare disease and RVA’s Scientific and Medical Advisory Committee. RVA and the HMRO recognise that few rare disease clinical trials have been selected for funding under the MRFF-CTA grant opportunity to date. RVA is in ongoing discussions with the HMRO to identify ways to facilitate greater investment in rare disease research, including clinical trials.

The MRFF’s commitment to priority-driven research has been transformative for rare disease. The explicit and intended focus of rare disease in particular grant rounds are a welcome change for rare disease, where knowledge is limited, and treatments are scarce. As acknowledged in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), for many people living with a rare disease, participation in a clinical trial may be the only way to access treatment. This reality emphasises the considerable need for greater investment in clinical trials to contribute towards achieving the Action Plan’s vision: the best possible health and wellbeing outcomes for Australians living with a rare disease.1

While RVA acknowledges the intentions to fund rare disease research, and the explicit mention of rare disease in grant names, it is clear—from RVA’s experience, grants selected for funding and now evidenced in the Evaluation Report—there remain few rare disease research studies selected for funding through the MRFF-CTA grant scheme. This claim is evidenced by the following:

  • Clinical trials addressing rare disease were not mentioned as part of the collective conditions studied under MRFF-funded clinical trials. This observation excludes rare cancers, which were noted as having the most trials funded under the MRFF-CTA grant scheme in the Evaluation Report.
  • There was no mention in the Evaluation Report about the need to encourage unique trial designs for rare disease. For example, n of 1 clinical trials and decentralised trials, which are vital to enabling access to life saving treatments where sample sizes are inherently few and geographically spread and patient populations are heterogenous. Whilst larger cohorts and conventional trial designs are important for statistical significance, they are not fit-for-purpose for rare disease due to small patient numbers. Trial designs that enable longer recruitment times could increase patient numbers; however, as mentioned in the results of the Evaluation Report, the limited duration of funding was a significant barrier to clinical translation and impact reporting for MRFF-funded trials.

The barriers and enablers to clinical trials identified in the Evaluation Report are relevant to rare diseases, including the duration of grant funding, workforce limitations, site governance and approval processes and patient recruitment. However, there are several barriers to clinical trials that are compounded in rare disease, including expectations around more conventional trial designs due to inherently small and geographically spread patient cohorts, and the expectation that verified Standardised Outcome Sets for rare diseases exist.

The Australian Government’s Action Plan addresses the importance of enabling clinical trials for rare disease in Australia.

Note: this article was updated on 31 August 2023.


  1. Commonwealth of Australia. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available from:

Genetic Services of Western Australia Survey: Closes 1 September 2023


The Government of Western Australia Department of Health and the Genetic Services of Western Australia (GSWA) invite people to participate in a project to plan the future of genetic service delivery by GSWA.

GSWA provides genetic counselling, genetic testing, and family planning support for people impacted by certain genetic conditions. GSWA is in the process of developing a clinical service plan which will outline the future direction of the service and help to enhance the experience of those who use it.

To ensure the clinical service plan reflects the needs of all Western Australians, the Health Consumers’ Council (Western Australia) Inc. and the Department of Health are consulting with a wide variety of stakeholders from June to October 2023. This will be done via surveys, interviews, focus groups and an online workshop.

Input is appreciated from:

  • Health professionals who manage people with genetic conditions and either refer to GSWA or currently do not refer to GSWA
  • Support service staff who assist people during their appointments with GSWA (including interpreters and Aboriginal Liaison Officers)

If you fall into either of these categories, please complete the Clinician and Support Service survey (hosted by the Department of Health).

General practitioners

If you are a general practitioner, you can also register for an online focus group on this website to discuss the current and future role of primary care in the provision of clinical genetics services in Western Australia. The discussion will focus on the opportunities and priorities for GSWA, but participants do not have to refer to GSWA to be eligible to attend.  Places are limited so please register to participate as soon as possible.

Go to Western Australia’s Department of Health website for more information.