Category: News

The Department of Health and Aged Care has advised that the first round of public consultation for the Health Technology Assessment (HTA) Policy and Methods Review (the HTA Review) is now open. Consultation 1 focuses on the objectives of the HTA Review set out in the Terms of Reference. Submissions are open until 6 June 2023.

More information about how to participate in Consultation 1 and making a submission is available via the Department of Health and Aged Care’s Consultation Hub. Information about the HTA Review is available via the HTA Review website, which has been updated to include:

• A consultation overview outlining the planned consultation activities for the HTA Review
• A Work Plan that includes the key work and milestones planned for the HTA Review

Rare Voices Australia (RVA) will be lodging a submission as the national peak body for Australians living with a rare disease.

RVA Education: Upcoming Webinar for RVA Partner Organisations

RVA is planning a webinar for RVA Partner organisations considering making a submission to the HTA Review. The webinar will cover:

• The purpose and scope of the HTA Review
• The relevance of the HTA Review to Australians living with a rare disease
• Key messages that are important for HTA review of rare disease therapies now and into the future

There will be an opportunity to ask questions and share ideas. RVA will share more information, including the agenda and time/date for the webinar, as soon as possible.

Note: RVA Partner organisations can also reach out to RVA for customised mentorship support: education@rarevoices.org.au

Background Information

The Department of Health and Aged Care published the Terms of Reference for the HTA Review in March 2023. RVA was pleased to contribute to the TOR consultation as the national peak body for Australians living with a rare disease. In March, RVA published this article, which includes:

• RVA’s reflections on the TOR
• An explanation of health technology assessment (HTA)
• How those interested can participate in the HTA Review
• Resources to help stakeholders interested in preparing a submission

Why Is Health Technology Assessment Important in Rare Disease?

As noted in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), many different types of health technology are used in rare diseases, and many more are emerging. Equitable access to health technologies is an important issue for the rare disease community and is highlighted in the Action Plan:

Priority 2.4: Enable all Australians to have equitable access to the best available health technology.

Limited data is inherent in rare diseases. This creates uncertainties that present specific challenges for HTA processes.

In March, the Australian Government Department of Health and Aged Care published Principles for consumer involvement in research funded by the Medical Research Future Fund (the Principles).

To achieve the best quality, outcomes and value for money in Medical Research Future Fund (MRFF) funded research, the Principles mention consumers should be involved:

• In every type of research
• At all stages of research
• In partnership with researchers
• Effectively
• Sensitively and safely
• With broad diversity and equity

Click here to find out more about the Principles.

Consumers interested in being involved in research, and researchers wanting to learn more about engaging consumers in their research, can also visit the RARE Portal for more information and links to resources. RVA also provides customised mentorship for RVA Partner organisations around participation in research: education@rarevoices.org.au.  

Background

This document outlines principles for consumer involvement in MRFF-funded research and practical guidance for researchers on their implementation. The Principles were developed with advice from the MRFF Consumer Reference Panel, a diverse group of socially, ethnically, culturally, linguistically and geographically diverse Australians, including people with lived experience as patients, service users and carers. The MRFF Consumer Reference Panel was established in 2022, ‘to provide advice to the Chief Executive Officer of the Health and Medical Research Office [the office responsible for implementation of the MRFF] on strategies for strengthening consumer involvement in the Medical Research Future Fund’s implementation’.

Why Is This Important?

Pillar 3 of the National Strategic Action Plan for Rare Diseases (the Action Plan) is Research and Data. For key decision-makers at all levels, greater knowledge of rare diseases can facilitate more responsive and appropriate services for people living with a rare disease and their families and carers. The Action Plan acknowledges that investment into all types of research related to rare disease is needed. There is an understanding in the Australian rare disease community that, while research may not lead to better outcomes for people currently living with a rare disease, participating in research may drive change for future generations.¹

1. Australian Government Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available from: https://www.health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases

The Australian Government Department of Health and Aged Care has published the terms of reference (TOR) for the Health Technology Assessment (HTA) Policy and Methods Review (the HTA Review). Read the TOR.

Rare Voices Australia (RVA) was pleased to contribute to the TOR consultation as the national peak body for Australians living with a rare disease.

What is health technology assessment?

A Health Technology Assessment (HTA) involves a range of processes and mechanisms that use scientific evidence to assess the quality, safety, efficacy, effectiveness and cost effectiveness of health services. Learn more about HTA.

The terms of reference

The TOR better articulate how the HTA Review is positioned alongside other concurrent HTA reform processes undertaken, including the:

• Refreshed National Medicines Policy
• Standing Committee on Health, Aged Care and Sport inquiry into approval processes for new drugs and novel medical technologies in Australia
• Co-design of an Enhanced Consumer Engagement Process (ECEP) to capture consumer voices regarding applications to list new medicines on the Pharmaceutical Benefits Scheme (PBS)

Rare Voices Australia’s reflections on the terms of reference

RVA is pleased that it is noted within the TOR that the ECEP will be informed by the existing Conversations for Change work led by the Department of Health and Aged Care, which involves RVA and rare disease organisation group leaders with an active interest in HTA.

The TOR read:

“The Enhanced Consumer Engagement Process is intended to facilitate the capture of informed consumer and patient perspectives earlier…”

RVA also welcomes the strong focus within the TOR on:

• “identification of patient relevant outcomes”
• “augmentation of… evidence with data designed to capture the value of health technologies from the perspective of patients and the community” (e.g. qualitative research, patient reported outcome measures (PROMs) etc.)
• “increasing transparency”
• “evaluations (including how the value of medicines is captured)”

See page 7 of the TOR for more information regarding the above points.

How to participate in the Health Technology Assessment Review

The Department of Health and Aged Care advises there will be multiple opportunities for stakeholders to provide input throughout the HTA Review. You can subscribe to PBS News and Updates for more information about the HTA Review.

The first round of consultation focusing on the objectives in the TOR will open on 11 April 2023. A consultation plan outlining all opportunities for stakeholder involvement in the HTA Review will be available with the opening of the first round of consultations.

Why is health technology assessment important in rare disease?

As noted in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), many different types of health technology are used in rare diseases, and many more are emerging. Equitable access to health technologies is an important issue for the rare disease community and is highlighted in the Action Plan:

Priority 2.4: Enable all Australians to have equitable access to the best available health technology.

Limited data is inherent in rare diseases. This creates uncertainties that present specific challenges for HTA processes.

Preparing for stakeholder consultations

The following information may be of interest to organisations planning to participate in HTA Review stakeholder consultations.

RVA Education: Writing Effective Government Submissions – A Guide for Rare Disease Organisations (Available to RVA Partners)

This course is ideal for:

• Rare disease organisation leaders interested in lodging submissions to government inquiries and consultations
• People living with a rare disease who are interested in lodging submissions and no formal support group exists

Note: if you are an RVA Partner, you will need to register on the site if you have not already done so.

RVA Partner organisations can also reach out to RVA for customised mentorship support: education@rarevoices.org.au

Health Technology Assessment international (HTAi) 2023 Annual Meeting

The Health Technology Assessment international (HTAi) 2023 Annual Meeting is taking place in Adelaide from 24 to 28 June 2023. The 2023 Annual Meeting theme is, The Road to Policy and Clinical Integration. HTAi is the global scientific and professional society for everyone who produces, uses, or encounters HTA to support optimal policy and decision making.

Rare disease appropriate National Disability Insurance Scheme (NDIS) supports and planning are an ongoing focus of Rare Voices Australia’s (RVA) advocacy. RVA has been working alongside several RVA Partner organisations (rare disease groups) that have experience and expertise with the NDIS to address systemic issues and gaps for people living with a rare disease who are also NDIS applicants or participants. 

Consultations with the National Disability Insurance Agency

In 2021 and 2022, representatives from rare disease groups, including RVA Partners Angelman Syndrome Association Australia; Batten Disease Support and Research Association Australia; Fragile X Association Australia; Huntington’s NSW ACT; Mito Foundation; Muscular Dystrophy Queensland; and SCN2A Australia met with representatives of the National Disability Insurance Agency (NDIA) alongside RVA. The purpose of these consultations was to highlight how the complex, changing and multi-faceted needs of people living with a rare disease could be better addressed.

In 2019, RVA collaborated with the rare disease sector on the paper, Disability & Rare Disease: Towards Person Centred Care for Australians with Rare Diseases. This paper collated evidence about the unmet needs of Australians living with a rare disease that cause disability. The paper also informed recommendations related to rare disease, disability and the NDIS in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). The Action Plan is the first nationally coordinated effort to address rare disease in Australia.

RVA has since engaged in multiple discussions at various levels within the NDIA. In 2022, the NDIA recognised the value of this ongoing conversation and identified RVA as a key peak body stakeholder.

Why is this important?

This has enabled discussions about policy and the systemic changes required for the NDIS to better respond to the needs of people living with a rare disease.

Four immediate key priorities:

In the first meeting for 2023, the NDIA, group of representatives and RVA agreed to progress:

1. Ensuring decisions about rare disease applicants and candidates are informed by appropriate rare disease expertise. This expertise would cater for the nuances and unique challenges rare diseases present to those engaging with the NDIS. RVA has been invited to propose a model that will facilitate ongoing access to this expertise.
2. Education for agency staff around the unique needs of applicants and participants living with a rare disease. This is designed to support responses and language that are sensitive to individuals and families diagnosed with a progressive, life-limiting, episodic and undiagnosed/rare disease where future needs are uncertain. RVA will be seeking input from our RVA Partner organisations regarding this.
3. A discussion on ways to navigate the complex interactions between the health, education, social support, employment and disability systems. The aim is to ensure that gaps and fragmentation are addressed to better meet the needs of people living with a rare disease that cause disability.
4. Ways to improve data collection regarding acceptance and participation of people living with a rare disease in the NDIS. Data collection of this nature will increase the visibility of participants in the NDIS living with a rare disease; provide evidence around the current experience of NDIS participants who have a rare disease; assist in identifying best practice; and recognise and address systemic gaps.

Acknowledgements

RVA would like to thank and acknowledge our RVA Partner organisations that have collaborated with us to progress these important issues. This work is yet another demonstration of the resourcefulness and effectiveness of rare disease advocates in our community.

Next steps

While RVA is aware that there are other important issues to address regarding the NDIS and people living with a rare disease, the four areas highlighted above have been prioritised as they are the foundation for other necessary improvements. RVA will continue to update stakeholders as these discussions progress and will reach out to RVA Partner organisations shortly to seek their input as needed.

Please contact education@rarevoices.org.au with any questions you may have. 

Rare Voices Australia (RVA) was pleased to attend a Rare Disease Day Parliamentary Event on 21 February hosted by the Parliamentary Friends of People with Rare and Undiagnosed Diseases (Parliamentary Friends Group) in Western Australia. RVA’s Chief Executive Officer, Nicole Millis; Director, Kane Blackman; Scientific and Medical Advisory Committee member, Clin/Prof Gareth Baynam; Education Project Officer, Jess Brooklyn; and RVA Ambassador, Andrew Bannister were pleased to attend.

The event focused on the experiences of people living with a rare disease. Karen Tighe shared her experience of living with encephalitis, while Monique Garcia spoke about being the mother and carer of a child living with a rare disease.

RVA thanks Co-Convenors of the Parliamentary Friends Group, the Hon Matthew Swinbourn MLC, the Hon Donna Faragher MLC and the Hon Stephen Pratt MLC, for their ongoing support of the rare disease community. We also thank the Parliamentarians who attended for their support of Rare Disease Day and the estimated two million Australians living with a rare disease.

Why are Parliamentary Events important?

Parliamentary Events provide stakeholders, including people living with a rare disease, with the opportunity to meet and speak with politicians to further highlight rare diseases. Locally, Rare Disease Day is an opportunity to raise awareness and inform policymakers on the issues faced by the Australian rare disease community, in an effort to achieve meaningful change. Pillar 1 of the National Strategic Action Plan for Rare Diseases is Awareness and Education, while ‘State, national and international partnerships’ is a critical enabler.

Rare Voices Australia (RVA) is pleased to continue our work in 2023 with Mental Health First Aid (MHFA) Australia to offer RVA Partner organisation representatives the opportunity to participate in Youth MHFA training and Aboriginal and Torres Strait Islander MHFA training. This work is a continuation of the mental health and wellbeing project that RVA commenced in 2022 (read more here), based on recommendations in the National Strategic Action Plan for Rare Diseases (the Action Plan). This initiative is funded through the Rare Disease Awareness, Education, Support and Training (RAREST) Project.

What is involved and what commitment am I making?

You will be required to attend three online Zoom sessions in addition to completing the online learning component of the course. The dates and times for the three online sessions are:

• Wednesday, 3 May 2023 from 9am-12pm (AEST)
• Wednesday, 10 May 2023 from 9am-12pm (AEST)
• Wednesday, 17 May 2023 from 9am-12pm (AEST)

It is expected that those volunteering to complete the Youth MHFA training are willing and have the capacity to provide MHFA support to youth in their rare disease community on an ongoing basis. The training is provided using Australian contexts and resources, and the course supports adults (those aged 18+).

Note: this opportunity is available to RVA Partner organisation representatives only.

About the Youth MHFA training

This training educates participants about how to assist adolescents who are developing a mental health problem, experiencing a worsening of a mental health problem or are in a mental health crisis. Youth MHFA is for adults who work, live or care for adolescents such as teachers, school support staff, parents, sports coaches, community group leaders and youth workers. Read the course flyer.

Youth MHFA provides an overview of mental illnesses, risk factors, prevalence, and impact before taking a much closer look at a selection of mental health problems. Watch the video to learn what to expect from the course.

Maximising your participation in this course

To maximise your participation in the Youth MHFA training, RVA asks that:

• You have access to and can use a computer with an internet connection to participate in the course via videoconference
• You are currently a rare disease group leader or are in a position of leadership within an RVA Partner organisation
• You do not have current MHFA accreditation

What is the cost?

RVA will cover the costs of the Youth MHFA course, which will be delivered in an online format. This includes a hard copy of the MHFA manual that will be mailed to you.

How does our organisation lodge our interest in participating?

If your proposed participant would like to participate in the Youth MHFA training, please complete this form.

Please note: if the applicant is confirmed as a participant, the contact information provided in the form above will be provided to the Youth MHFA course facilitator (Cate Clark) for the program so they can liaise directly with attendees.

Meet Your Facilitator Cate Clark

The course will be facilitated by MHFA instructor Cate Clark. Cate is a highly skilled Credential Mental Health Nurse with extensive experience across all aspects of mental health in both the public and private sectors. Over her 40 years as a practitioner, she has developed an approach focussed on trauma-informed care and recovery-based interventions. Cate is a creative person with a passion for mental health and a genuine interest in people. She has a particular interest in working with families and carers and in capacity building in communities. Read more about Cate and her role as an MHFA instructor.

Rare Voices Australia (RVA) Partner, Childhood Dementia Initiative (CDI), recently launched the Childhood Dementia Knowledgebase (the Knowledgebase)—a growing collection of rich data about the 100+ conditions that cause childhood dementia. The Knowledgebase is a relational database providing key information, including incidence, prevalence, life expectancy, age of onset and diagnosis, genetic cause, signs and symptoms and more!  Clinicians and researchers can interrogate the Knowledgebase for their research and plan new and innovative research projects. In parallel to the development of the Knowledgebase, CDI brought together health and medical researchers from around the world to drive research and increase opportunities for collaboration through their Childhood Dementia Research Alliance (the Alliance). The Alliance has helped shape the Knowledgebase and, as prime users of this resource, will continue to contribute to its future expansion and improvements.

Limited data is a common feature of rare diseases, often resulting in high uncertainly, which impacts every part of people’s lives. The Knowledgebase is driving the collection of much needed data relating to a broad range of life-limiting rare diseases—data that can support the development of new knowledge and treatments in an area of high unmet need. This initiative contributes to the implementation of key areas in the National Strategic Action Plan for Rare Diseases (the Action Plan). It directly addresses Priority 3.1 in the Research and Data Pillar, ‘Enable coordinated and collaborative data collection to facilitate the monitoring and cumulative knowledge of rare diseases, informing care management, research and health system planning’. The high quality, comprehensive collection and effective use of rare disease data is also one of the critical enablers of the Action Plan.

RVA is excited in anticipation of the impact the Knowledgebase will have on people living with childhood dementia both in Australia and overseas.

The Childhood Dementia Knowledgebase is now available as a public resource. Register for access to the Childhood Dementia Knowledgebase here.

Western Australia’s (WA) Department of Health recently released the WA Genomics Strategy 2022-2032 (the Genomics Strategy), which outlines a co-ordinated approach to translate genomics and enable precision medicine and precision public health for WA’s health system.

As part of the implementation of the Genomics Strategy, the WA Department of Health is seeking expressions of interest (EOI) to recruit consumer representatives with lived experience of a genetic condition and/or the Genetic Services of Western Australia (GSWA) for two groups:

• WA Genomics Strategy Implementation Committee
• GSWA Clinical Service Plan Co-Design Team and Working Group

How to lodge an EOI

Consumer representatives can lodge their EOI via this form. The EOI closes on Friday, 27 January 2023.

More information

Visit this page for more information.

The Hon Mark Butler MP, Minister for Health and Aged Care, has announced the updated National Medicines Policy (NMP). The refreshed NMP is available on the Department of Health and Aged Care’s website.

RVA is currently reviewing the refreshed NMP in detail and what it may mean for Australians living with a rare disease.

As the national peak body for Australians living with a rare disease, RVA has been actively involved in the NMP Review.

RVA has contributed to the NMP Review to date in several ways, including:

• Lodging a Submission to the initial consultation in October 2021
• Participating in a one-on-one interview as the national peak body with the NMP Review’s Expert Advisory Committee
• Submitting a response to the draft NMP in March 2022
• Lodging a Submission to the draft NMP in September 2022

The first-ever global consensus clinical care guidelines (guidelines) for Sanfilippo Syndrome have been published. RVA Partner Sanfilippo Children’s Foundation (Australia) has collaborated with Cure Sanfilippo Foundation (United States of America), people living with Sanfilippo Syndrome and over 100 clinicians globally to develop and publish the guidelines.

Establishing consensus among medical professionals with expertise in the care of individuals with Sanfilippo on recommended care guidelines is a key step to elevating the care and support for children around the world who are living with Sanfilippo Syndrome.

How were the guidelines developed?

The guidelines were established through a multistage process to arrive at consensus recommendations, with input from more than 100 clinicians around the world with a range of specialist expertise, who have experience in the care of individuals with Sanfilippo Syndrome. Lived experience was integrated through participation of the collaborating Sanfilippo advocacy organisations.

What’s in the guidelines?

Accessible to anyone providing medical care, rehabilitative care, or support services for individuals with Sanfilippo Syndrome globally, the guidelines provide evidence-based, expert-led recommendations and guidance on Sanfilippo Syndrome-specific care management and monitoring of disease-related changes. Additionally, the guidelines are a practical resource for families to become well-informed advocates and can be shared with local care teams, who may not have previous experience with this rare disease. 

Topics addressed in the guidelines include: 

• Symptoms that should raise suspicion for the diagnosis of Sanfilippo Syndrome
• Methods of establishing the diagnosis
• Evaluating, monitoring and managing neurological, gastrointestinal, airway, musculoskeletal and the many other complications that may develop
• Special focus on the evaluation of unexplained pain and distress
• Rehabilitative therapies
• Support services 

Download a copy of the guidelines here.

Visit the Sanfilippo Children’s Foundation website for more information about the guidelines.

What are the next steps?

Cure Sanfilippo Foundation and Sanfilippo Children’s Foundation, in collaboration with international Sanfilippo Syndrome organisations, are developing a streamlined version of the guidelines for easy reference and access in multiple languages.