Importance of Early Diagnosis in Rare Disease

Importance of Early Diagnosis in Rare Disease

For people living with rare and undiagnosed diseases, timely and accurate diagnosis is critical to enabling access to best practice clinical care and treatments, some of which can be life changing or lifesaving. Early diagnosis facilitates timely access to services; peer support; research and clinical trials for new and novel treatments; and interventions for improving reproductive confidence.1 Equitable access to a range of diagnostic tools and tests, regardless of where people live in Australia or their cultural background, is essential for early and accurate diagnosis.

Significant diagnostic delays and misdiagnoses, often referred to as the ‘diagnostic odyssey’, are common features of rare disease.1 Thirty per cent of Australian adults living with a rare disease are impacted by a diagnostic delay of more than 5 years, and almost half of these have received at least one misdiagnosis. Many people also live without a diagnosis because the cause of their disease has not been identified. Australians living with an undiagnosed rare disease, misdiagnosis, and those still on the path to diagnosis face a broad range of psychosocial challenges and often find it difficult to access care and support.1

If you are experiencing difficulty getting or understanding your diagnosis or accessing support, please talk to your doctor or contact the RARE Helpline.

This page contains information on screening and testing programs available for rare diseases in Australia. The information on this page is intended as a guide only. If you are aware of any additional information that may benefit stakeholders with an interest in this page or another page on the RARE Portal, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.

Newborn bloodspot screening

Newborn bloodspot screening (NBS) is a free test offered to all newborns in Australia to identify babies at risk for certain conditions who would benefit from early treatment or management.2,3 In Australia, more than 300,000 babies are screened through NBS programs each year, with one in a thousand babies found to have a condition that would have otherwise gone undetected at birth.2,3   

NBS programs are currently being delivered at a state and territory level. Information on individual programs, including program contact details, can be found at State and Territory NBS programs. The program is guided by the Newborn Bloodspot Screening National Policy Framework.

The Department of Health and Aged Care is currently working to expand Australia’s NBS program to ensure all babies have access to the same screening regardless of location. Information on the conditions screened in Australia’s NBS programs can be found at Australian Government Department of Health and Aged Care: What is screened in the program.

Other useful information on NBS:

Note: if you have not registered on Rare Voices Australia’s Online Education Portal, you will need to do so via this page to watch the webinars. Enrolment for the above webinars is open to all stakeholders.

Reproductive carrier screening

Reproductive genetic carrier screening is an optional test that can be conducted before pregnancy or during early pregnancy to determine the probability of having a child with a specific serious genetic condition.4 The test can identify if one, or both parents, are a genetic carrier for a particular condition that could be passed on to their children. This is not the same as antenatal screening tests performed during pregnancy, which are used to identify the possibility of having a child with a chromosomal condition, such as Down syndrome.

Reproductive carrier screening may be suitable for those who are considering a pregnancy, or in early pregnancy, and wish to obtain more information about their chances of having children with certain genetic conditions. Individual(s) who are at risk of having a child with a genetic condition will be provided with information about their reproductive choices.4 More information can be found at NSW Health Centre for Genetics Education: Factsheet on reproductive genetic carrier screening.

Having equitable access to reproductive carrier screening is important for facilitating increased reproductive confidence.1 From November 2023, the Australian Government made reproductive carrier screening available through the Medicare Benefits Schedule (MBS) for 3 rare conditions—Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA) and Fragile X Syndrome (FXS). Genetic counselling should be included as an essential part of the genetic carrier screening process.

Below is more information on reproductive carrier screening:

Acute Care Genomics study: Ultra-rapid whole genome sequencing for babies and children

Genomic sequencing is increasingly important for diagnosing rare diseases of genetic origin. In 2020, through the Acute Care Genomics study (a national research program), ultra-rapid genome and exome sequencing was provided as a first-line diagnostic test for critically ill babies and children with suspected rare genetic conditions admitted to neonatal and paediatric intensive care units across Australia. This study, which has now concluded, was able to deliver results in under 5 days. It supported timely diagnosis in acute care settings, resulting in more appropriate care management and better-informed treatment options, which in some cases include access to life saving treatments.5

Please note that upon the conclusion of the study, ultra-rapid genomic sequencing is now only available in some hospitals.

Read about how ultra-rapid genomic testing transformed Evie Wagner’s life (Australian Genomics).

Undiagnosed rare disease research programs

Undiagnosed rare diseases include conditions that remain to be characterised and thus do not have an available diagnostic test. There are now a growing number of research programs, which use new and novel technologies and processes to discover the causes of undiagnosed rare diseases. If you are living with an undiagnosed disease, please talk to your clinical genetics service about your eligibility for referral to an undiagnosed rare diseases program, such as the Australian Undiagnosed Disease Network.

In Australia, there are also 2 well-known diagnostic tools that use facial recognition technology to arrive at a genetic diagnosis based on their phenotype (a person’s observable traits).

  • Cliniface is a free 3D facial visualisation, measurement and analysis software helping clinicians and researchers understand how facial variation relates to rare diseases. It assists with medical diagnosis, patient screening, treatment monitoring, clinical trials, and surgical planning.
  • FaceMatch aims to help people with possible genetic conditions find a diagnosis by matching their facial features with people who already have a diagnosis. Patients, families and clinicians can contribute to and use FaceMatch technology.


  1. Australian Government. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available From:
  2. Australian Government. Department of Health and Aged Care. Newborn bloodspot screening: About newborn bloodspot screening. Accessed May 10, 2023.
  3. Australian Government. Department of Health. Newborn Bloodspot Screening National Policy Framework. Canberra; 2018. 76p. Available from:
  4. Fact Sheet 65: Reproductive genetic carrier screening. 2019. The Centre for Genetics Education. 4p. Available from:
  5. Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J et al. Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nature Medicine [Internet]. 2023; 29:1681-1691. Available from: