Newborn Bloodspot Screening Update: Changes to the Assessment Process for Nominated Conditions

The Department of Health has announced changes to the assessment process for nominated conditions conducted under the Newborn Bloodspot Screening (NBS) National Policy Framework (the Framework). Under the Framework, anyone in Australia can nominate a condition to be added or removed from NBS programs.

Moving forward, as stated on the Department of Health’s website:

When the Department receives a new application it will conduct an initial review and submit its findings to the Chief Medical Officer (CMO) for consideration. Should the CMO agree that the condition warrants a detailed review, he will advise the Health Chief Executives Forum (HCEF) and refer the assessment firstly to the NBS Program Management Committee for review against the population screening criteria. If this assessment is positive, it will then be referred to the Medical Services Advisory Committee (MSAC) for a Health Technology Assessment. Following receipt of the MSAC recommendation, the CMO will advise the HCEF of the outcome. The states and territories will then make decisions regarding implementation.”

Rare Voices Australia (RVA) has been highlighting the need for increased sustainability, equity and transparency for NBS for some time. RVA has conducted targeted advocacy at both the Commonwealth and state levels. Over the past nine months, RVA has engaged with the Hon. Greg Hunt MP, state Health Ministers, the national NBS Program Management Committee, state NBS programs and relevant rare disease organisations to ensure that this essential and successful screening program can evolve with advances in medical technology and provide equitable and consistent access to evidence-based screening for all Australian babies.

RVA welcomes the Department of Health’s reform which we believe will give the assessment component of the NBS program ongoing sustainability and encourage more timely implementation at a state level. RVA believes this will increase both equity and transparency in NBS programs. We are also pleased to see that the existing nomination process has been retained, enabling any interested party to put forward a nomination for assessment.

We thank Minister Hunt for his leadership on and commitment to this critical issue. RVA would also like to thank our rare disease partner organisations for working in partnership with us. We also thank states and territories for their ongoing engagement and commitment to NBS and look forward to working with them on timely implementation of future recommendations arising from this process.

RVA has arranged a meeting with the Department of Health to discuss the impact of these changes for all stakeholders and will share further information as it becomes available.

Click here to read more about NBS on the Department of Health’s website.


The Framework is designed to support the continued access of the NBS program by providing a robust, transparent process for national decisions on the conditions screened as part of the NBS program. RVA strongly supported the endorsement of the Framework in 2018, as it had the potential to further develop NBS in a consistent and equitable way across Australia. Unfortunately, despite the Framework’s many strengths, its implementation has been greatly impacted by funding gaps, resulting in uncertainty, inequity and delay across the country. This is clearly highlighted in the National Strategic Action Plan for Rare Diseases: Address urgent funding gaps associated with the effective implementation and sustained success of the Newborn Bloodspot Screening (NBS) National Policy Framework.

RVA’s advocacy for increased sustainability, equity and transparency

RVA has been highlighting these issues with the NBS for some time. In recent times, RVA has conducted targeted advocacy at both Commonwealth and state levels. We have communicated regularly with Minister Hunt’s office and Health Ministers’ offices in all states/territories and with other key stakeholders.

Andrew Bannister wins the Masonic Care WA/Freemasons WA Community Service and Volunteering Award and the People’s Choice Award

Rare Voices Australia (RVA) congratulates rare disease advocate, Andrew Bannister, who has been announced as the winner of the Masonic Care WA/Freemasons WA Community Service and Volunteering Award at the Young Achievers Award WA. Andrew also won the People’s Choice Award. Thank you to everyone who voted for Andrew.

RVA thanks the Hon. Matthew Swinbourn MLC, a long-time rare disease champion, for his attendance and support of Andrew at the awards ceremony. We also thank Dr Kristen Nowak, a member of RVA’s Scientific and Medical Advisory Committee, for representing RVA at the event.

Nominees in the Masonic Care WA/Freemasons WA Community Service and Volunteering Award category are community service workers or young volunteers who, through exceptional leadership, demonstrate initiative beyond what is expected of them.

Andrew was born with several rare brain malformations, including Periventricular Nodular Heterotopia (PVNH). In 2020, he organised 35 landmarks in Australia and around the world to be illuminated for Rare Disease Day. He continued his amazing work with illuminations for Rare Disease Day in 2021. Andrew is also the current Australian Paracycling Road Series Champion.

Australian Clinical Trials Alliance: Have your say on secondary use of data in clinical research

Interested in secondary use of data for Australian research?

Invitation to take part in Australian Clinical Trials Alliance’s (ACTA) online webinar and virtual consultation workshop on behalf of the Australian Research Data Commons (ARDC).

Response requested by 1 June 2021.

ACTA is working with the ARDC to gather insights and feedback about the Health Studies Australian National Data Asset (HeSANDA).

The HeSANDA initiative aims to build a national collection of data generated through Australian health research and support appropriate and ethical sharing of the data with other Australian researchers. By supporting secondary use of data from health research, HeSANDA aims to stimulate new research ideas, increase the impact of health research, increase the benefits of investment in health research, and ultimately improve the health and wellbeing of people in Australia.

As a first step, the initiative is focusing on data and information collected from investigator-initiated clinical trials.

We are inviting people who are involved in clinical trials research in Australia to attend a 90-minute virtual consultation workshop to provide views on how a national data asset could be designed, built, and implemented in Australia.

We are interested in hearing from:

1: researchers involved in the design and/or conducting of clinical trials
2: people who work for a clinical trials/research organisation
3: consumers (patients, carers or people who use healthcare services) who are or have been involved in the design and/or conducting of clinical trials
4: clinical trial participants (people who have taken part in, are taking part in or are considering taking part in a clinical trial)

Be informed before providing feedback

We ask that everyone providing feedback through the consultation process reads the attached background paper.

You can also register to attend a 1-hour online webinar about the HeSANDA initiative at 3-4pm AEST on Tuesday 8 June. The webinar will provide a brief background on secondary data use and the proposed approach to designing a national data asset to support secondary use of data from clinical trials in Australia. The webinar will provide a useful background for anyone attending the consultation workshops and will be of particular value for consumers.

Have your say

Once you have read the background paper and/or attended the online webinar, you can have your say on the HeSANDA initiative in one of two ways:

1. Attend a 90-minute virtual consultation workshop in June 

We are running four sessions: two will focus mainly on issues for consumers/trial participants and two will focus mainly on issues for
researchers. Choose from one the following sessions. Register here.

Consumers/Research participants
16 June from 2pm – 3:30 pm (AEST)
21 June 11am – 12:30pm (AEST)

Researchers/clinical trial organisations
17 June 4:30pm – 6:00pm (AEST)
22 June 5pm – 6:30pm (AEST)

Workshop numbers are limited. If you work for a clinical trials organisation, we recommend only one representative attend the virtual workshop.

Consumers and research participants who join the consultation will be reimbursed for your contribution. ACTA will discuss the details with you further after your EOI has been received.

2. Complete the online survey

Information from the consultation process will inform the next stage of planning for the HeSANDA initiative. For more information, see the background paper.

If you have any questions about the consultation process, please contact Fiona Nemeh at ACTA:

United Nations General Assembly Resolution on Persons Living with a Rare Disease and their Families

The global community of persons living with a rare disease, their families, and civil society organisations, with the support of UN member states, are calling for the adoption of the upcoming United Nations General Assembly (UNGA) Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families” (Resolution on PLWRD). This campaign is being led at a global level by the NGO Committee for Rare Diseases, Rare Diseases International and EURORDIS – Rare Diseases Europe.

Brief summary

  • The UNGA Resolution on PLWRD will be presented through the Third Committee, which commences in September 2021. Learn more about the UNGA Resolution process here.
  • As one of the 193 nation-states of the UN, Australia will have the opportunity to support the adoption of the UNGA Resolution on PLWRD.

Significance of a UNGA Resolution

A UNGA Resolution would bring visibility to PLWRD within the UN system as much as in its member states at a national level. It would act as a catalyst for actions and policies, both at the global and national level in countries around the world.

Key asks of the Resolution on PWLRD

The UNGA Resolution on PLWRD is made up of five key asks that are consistent with a range of existing initiatives, policies and declarations across different areas including:

  • Protection of human rights
  • Fight against stigma, discrimination, exclusion, and marginalisation
  • Disability
  • Vulnerability
  • Rights of children and rights of women
  • Universal Health Coverage
  • Agenda 2030, Sustainable Development Goals, the commitment to “Leave no one behind”
  • Social inclusion

Five key asks

  1. Human rights and inclusion: participation and inclusion of persons living with a rare disease and their families in society and respect of their human rights

  2. Appropriate care: improvement of health and social outcomes with the appropriate care and support within existing resources

  3. National strategies: promotion of national strategies and measures to leave no one behind

  4. Recognition in the UN system: integration and visibility of the rare diseases issue into UN agencies and programmes

  5. Monitor progress and implementation: regular reports by the UN Secretariat to monitor the implementation and progress on the status of PLWRD

Read about these key asks in more detail here.

Rare Voices Australia’s (RVA) advocacy for a UNGA Resolution on PWLRD

RVA has written a formal letter to the Hon Greg Hunt MP’s office to inform the Minister’s office about the upcoming UNGA Resolution on PWLDR. We have requested that Australia endorse the UNGA Resolution on PLWRD, in alignment with the Australian Government’s demonstrated commitment to rare diseases.

Additionally, RVA will be disseminating information in our monthly e-newsletter and across our social media channels to help spread the word about the UNGA Resolution on PWLDR.

How you can help

We welcome all stakeholders in the rare disease sector to help amplify this message by sharing RVA’s posts on social media and this article with your network.

You can also access this toolkit and download a range of assets to use in your advocacy.

Next steps

The aim is to the get the UNGA Resolution on PWLDR adopted by the 193 member states of the UN at the General Assembly in their session which commences in September 2021. The hope is that the adoption of this UN Resolution is achieved by October or November 2021.

MRFF Rare Cancers Rare Diseases Unmet Need grant open

A new Medical Research Future Fund (MRFF) Rare Cancers Rare Diseases Unmet Need grant has opened.

Applications to this grant opportunity must propose research that addresses one of the seven Streams of research outlined in the grant. Click through for more information. 

The close date and time is 18 August 2021 at 5pm (ACT local time).

Click here for more information.

Federal Budget 2021-22 and Australians living with a rare disease

On Tuesday 11 May 2021, Treasurer Josh Frydenberg announced the Morrison Government’s 2021-22 Federal Budget. 

As the peak body for Australians living with a rare disease, Rare Voices Australia (RVA) attended the Department of Health’s Portfolio Briefing webinar presentation and Q&A with the Hon Greg Hunt MP (Minister for Health and Aged Care); Senator the Hon Richard Colbeck (Minister for Senior Australians and Aged Care Services); the Hon Mark Coulton MP (Minister for Regional Health, Regional Communications and Local Government); and the Hon David Coleman MP (Assistant Minister to the Prime Minister for Mental Health and Suicide Prevention). The session was facilitated by Dr Brendan Murphy, Secretary of the Department of Health.

Click here to read RVA’s full statement.

Young Australians living with rare diseases defy the odds but need better support, expert says

Young Australians living with rare diseases can face significant social, employment and educational barriers in life.

Many can also experience isolation and exclusion from their peer groups. 

But Basit Bahram is trying his best to overcome these challenges. 

RVA’s CEO was interviewed by ABC News.

Click here to read the full article.

Parents of first Aussie child diagnosed with rare disease to crowdsource clinical trial

If you ask her parents, Trisha Sawhney is like any typical 12-year-old girl in so many ways.

“Trisha is a happy-go-lucky child. She has lots of hobbies. She loves TikTok, singing and dancing,” her father Neeraj Sawhney, from Melbourne, says.

“She also loves cooking and baking and wants to start her own YouTube channel to upload her dance and cooking videos.”

RVA’s CEO, Nicole Millis, was interviewed by

Click here to read the full article.