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Office of Population Health Genomics  

Newborn bloodspot screening policy framework

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Introduction

Newborn bloodspot screening (NBS) plays an important role in protecting all newborns in Australia from the effects of serious conditions, some of which are life threatening. NBS programs have been operating successfully in Australia for 50 years, and are supported by a strong stakeholder network. A national policy framework is being developed to support the continued success of the programs, and enable them to develop into the future. This project is being led by the Standing Committee on Screening’s national, multidisciplinary NBS Working Group.

About NBS in Australia

Newborn bloodspot screening (NBS) is provided in all states and territories in Australia. It involves taking a sample of blood from the baby’s heel within the first few days after birth. This is known as the ‘heel prick test’. This sample is tested for approximately 25 treatable conditions. About one in every thousand babies born in Australia will have one of these treatable disorders. NBS enables early diagnosis and treatment, which can prevent death, mental retardation, or physical disability.

NBS programs in Australia are funded by state and territory governments, and therefore operate independently in each jurisdiction. Screening is offered to all babies in every jurisdiction, with 99% of babies born in Australia receiving screening. The analysis of bloodspots is undertaken by five major laboratories in: New South Wales; Queensland, South Australia; Victoria; and Western Australia. For those states which do not have a laboratory, samples are sent interstate for testing. There is no national oversight provided by governments for these programs. However, the Human Genetics Society of Australasia (external site) is a national professional network that supports NBS in Australia, jointly with the Royal Australasian College of Physicians.

Links to key websites providing information relevant to NBS can be found under useful links.

What is a policy framework?

A policy framework is an overarching document which clearly outlines the key features of a program. Its purpose is to support those working in the programs through providing clear guidance and policy direction, relevant to the environment in which the program operates. A publicly available framework enables consumers and other stakeholders to understand what the program involves.

In relation to NBS, a national policy framework will include: a program overview; program implementation; quality framework; monitoring; and decision making framework. These key features are then supported by additional policies at state, territory and national levels.

View an example of a policy framework (PDF 463KB) developed for the New Zealand Newborn Metabolic Screening Programme.

Why is a policy framework needed for NBS in Australia?

NBS programs have operated successfully in Australia for 50 years. More than 99% of babies born in Australia participate in NBS. However, further policies are needed to support the programs into the future. Specifically, policies are needed to enable the NBS programs to further develop, and respond to the changing environment in which they operate. To support the success of NBS programs, a policy framework will be developed to respond to the following issues:

  • there have been calls to screen for more conditions through the programs. While NBS is highly effective for the conditions it currently screens, it may be less effective for other conditions. Therefore, there is a need to assess the benefits and harms of screening for conditions to enable governments to make nationally consistent decisions on which conditions should be included in the programs. However, there is currently no pathway to enable such an assessment.
  • science and technology related to the testing and treatment of conditions included in the NBS programs, as well as other conditions for which NBS could be offered, is rapidly changing.
  • consumers want to know more about how their health information is stored, used and accessed.
  • there is growing recognition of the information needs of consumers when participating in a screening program.
  • there is an increasing understanding of the expectations of parents, including for consistent screening across Australia.
  • in the time since NBS programs were established, Australian Governments have recognised the importance of clear national policies to support high-quality and consistent screening. This is communicated through the Australian Population Based Screening Framework

How will the policy framework affect me?

For parents and families a national policy framework will:

  • provide parents and families clear information outlining what is involved in newborn screening.
  • provide information in a timely and consistent manner across Australia.
  • ensure that the programs continue to offer screening for all newborns in Australia which is safe and effective.
  • provide a pathway for an evidence-based approach to the assessment of newborn screening for other conditions.
  • safeguard the future of newborn screening programs, to ensure the benefits to the community and newborns and their families are maximised.

For health professionals working with newborns and those working in newborn screening programs a national policy framework will:

  • seek to enhance program consistency across Australia, while supporting current operational practices.
  • provide a government endorsed and publically available source of information regarding newborn screening in Australia.
  • articulate the elements of the screening pathway in one document, highlighting the wide range of roles and responsibilities that exist to support these important programs.
  • support the assessment of conditions for inclusion in, or removal from, newborn screening programs through a transparent and consistent decision making pathway.
  • support programs to respond to changes in science and technology while remaining safe and effective.

Who is responsible for the project?

The project is being undertaken by the Standing Committee on Screening (SCoS). This is a national group that provides policy advice on screening to all Australian Governments. SCoS reports to the Community Care and Population Health Principal Committee (CCPHPC), which operates under the Australian Health Ministers’ Advisory Council (AHMAC). SCoS has established the multidisciplinary NBS Working Group to draft the framework, with input from stakeholders across Australia.

The NBS Working Group includes representatives and experts from the fields of:

  • Australian College of Midwives
  • bioethics
  • Commonwealth Government
  • consumer advocacy
  • Human Genetics Society of Australasia
  • international NBS
  • NBS program operations
  • NBS program management
  • The Royal Australasian College of Physicians
  • The Royal College of Pathologists of Australasia
  • Standing Committee on Screening, and
  • screening policy development.

WA Health, through its Office of Population Health Genomics, is coordinating the development of the newborn bloodspot screening policy framework by providing secretariat and project support to the working group. The NBS Working Group can be contacted via its secretariat: NBSWG@health.wa.gov.au.

How will the project proceed?

The project will be undertaken in five iterative stages, which include:

  • project initiation: establishment of the NBS Working Group and early communication undertaken to highlight commencement of the project (completed).
  • drafting elements: the NBS Working Group, with early input from select stakeholders, will draft the elements that will comprise the policy framework. Elements will also be informed by existing key documents, including the Human Genetics Society of Australasia’s Newborn Bloodspot Testing Policy (external site).
  • early review: broad public consultation will be held to seek comment on the work to-date, and direction of the project. A draft policy framework will then be updated in line with the feedback received.
  • review draft policy framework: broad public consultation will be held on the draft policy framework. Feedback received will then inform the final drafting stage.
  • project completion: a final draft will be submitted to SCoS and other committees, including the CCPHPC and AHMAC, for endorsement. Following this endorsement of the policy framework and implementation plan, the project will be finalised. The policy framework will be communicated to stakeholders. This is anticipated to occur in early 2016.

The success of this project relies on early, open and continued communication with a range of stakeholders. There will be a range of opportunities for those who are interested to be involved in the project.

Project updates

The NBS Working Group first met on 8 May 2014, and meets regularly. The NBS Working Group is committed to working openly, and providing timely information on the progress of the project. Following each meeting the Working Group releases communiques which provide an overview of the major points of discussion and progress of the project.

Stakeholder involvement

The NBS Working Group is committed to working with the wide range of stakeholders involved and interested in NBS. There have been multiple opportunities for people and organisations to provide input into the development of a policy framework. To date this has included:

  • targeted consultation with key stakeholders
  • an open consultation workshop held in April 2015
  • an online consultation survey, open from 12 June 2015 until 12 July 2015, and
  • a final consultation workshop was held on 12 August 2015.
The Working Group is now finalising the draft of the policy framework, and will be undertaking additional targeted consultation as needed.

Past stakeholder consultations

First consultation workshop

The Newborn Bloodspot Screening Working Group held its first consultation workshop in Melbourne on 29 April 2015. This workshop provided stakeholders the opportunity to provide detailed input into the policy framework. The consultation workshop included a(n):

  • background on screening and newborn bloodspot screening in Australia
  • overview of the project
  • discussion of the needs and expectations of stakeholders from newborn screening, and
  • discussion about decision making criteria that may be used to assess new conditions for newborn screening.

All feedback collected from the first consultation workshop has been collated and is being used to inform the development of the policy framework.

Consultation survey

The NBSWG hosted an online consultation survey to engage with a broad range of stakeholders beyond those able to attend the workshops, including families, clinicians, newborn screening staff and policy officers. The survey was open from 12 June 2015 until 12 July 2015, and sought input from stakeholders to:

  • determine the suitability of the proposed policy framework to guide newborn screening in Australia
  • provide greater clarity on key issues identified by the working group, and
  • identify gaps within the proposed policy framework.

Results from the consultation survey have been analysed and were used to help inform the content of the draft policy framework. Key findings of the survey are available as a summary report (PDF 4.65MB).

Final consultation workshop

The NBSWG held its final consultation workshop on 12 August 2015, in Perth. The purpose of the workshop was to bring together key individuals and organisations interested and involved in newborn bloodspot screening.

The aims of the consultation workshop were to:

  • provide an update on the policy framework development process
  • consider draft policies included in the policy framework, and
  • seek input on key strategic issues to be addressed in the policy framework.

The consultation workshop was not a forum to nominate or debate conditions for inclusion in newborn screening programs. It was instead solely about considering policies and practices required to support the continued success of newborn screening. Feedback from the day has been collated and is now available as a summary report (PDF 1.06MB).

How can I find out more?

If you wish for more information, you might like to:

Useful links

State and territory NBS programs

Other important links


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