Finding A Diagnosis

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Diagnostic flow chart 

genetics flowchart genetic testing process 2021


Why diagnosis matters

When a child has unexplained physical, behavioural or cognitive challenges, it’s natural for parents to want to find out why. A diagnosis not only helps explain your child’s condition, it can also inform treatment pathways and help your family access support and plan for the future.

Getting a diagnosis

In Australia, it is estimated that 2500 children are born with an undiagnosed condition every year. And while genetic testing is advancing rapidly, some children will, sadly, never receive a diagnosis. The journey to diagnosis often starts with your GP or maternal and child health nurse. They can refer your child to a paediatrician or geneticist. You can read more about finding a diganosis in our Finding a diagnosis information sheet and our “Some children are not the same” Easy English information sheet.  

Diagnostic testing explained

Genes are the building blocks of our bodies and can help explain why a person presents with particular characteristics and features. They determine everything from our eye colour to our IQ. We have more than 20,000 genes that tell our bodies how to grow and function. Each contains DNA made up of a four-letter chemical code (ACTG), and we have 3 billion codes all up. When there are variations in the code – single letters changed, missing or duplicated – health and developmental conditions may occur. 

Examining our genetic make-up is the key to finding a potential diagnosis. There are two broad categories of testing available – genetic testing and genomic testing.

Genetic testing

Genetic testing examines one single gene to check for variations that may cause a particular condition. For example, if a child has a pattern of features consistent with a particular syndrome.

Genomic testing

Genomic testing examines every gene simultaneously, providing a complete picture of a person’s genome (their genetic map). This may be required in more complex cases where doctors will be looking for gene changes in the 3 billion codes that make up the human body.

Testing outcomes

Here’s what you can expect when your results come back:

Diagnosis – One or more gene changes (sometimes called a gene variant) are found which explain the genetic condition.

No diagnosis – No gene changes are found that explain the genetic condition.

Gene change – A gene change is found but it is unknown if this is the cause of the genetic condition. These types of changes can also be known as variants of uncertain significance.

Incidental gene change – An incidental unexpected gene change is found that is not related to the genetic condition.

The impact of a diagnosis

A diagnosis can take time to process and can create further concerns and questions. It may mean a change in treatment or therapy and more targeted support.

At the time of diagnosis, parents may experience a range of feelings. 

SWAN emotions image

No diagnosis, what now?

Genomic research is an evolving science. There are new breakthroughs happening every day. Your child’s data can be stored and re-examined at a later date. One in 10 diagnoses are made under re-examination so it is worth asking for a referral back to a geneticist every few years. Your doctor may also recommend follow-up testing and referrals to other specialists and support services. You may be eligible to be part of an Undiagnosed Disease Program or research program. You can ask your geneticists if this is an option for your child.

Undiagnosed disease programs

Unfortunately, there is no national Undiagnosed Disease Program (UDP). We hope one will evolve. Below you will find the states that do have a UDP and information on their respective programs. 

RDNow – Victoria

Rare Diseases Now (RDNow) is an exciting new initiative focused on delivering genomic diagnoses and precise, personalised care to children at The Royal Children’s Hospital (RCH), Melbourne. Drawing on the research and clinical expertise at the Murdoch Children’s Research Institute and Victorian Clinical Genetics Services, RDNow establishes pathways for children (who remain undiagnosed after a genomic test such as exome sequencing) to have the best chance of receiving a diagnosis and to access the latest clinical trials and treatments. Funded by the RCH Foundation, RDNow provides opportunities for families to participate in studies that will increase their care and support mechanisms and further the RCH’s clinical and scientific knowledge of rare conditions.  If your child or family member is a patient of RCH and has undergone a genomic test but remains undiagnosed, please contact your RCH doctor or genetic counsellor to discuss eligibility for RDNow. 


The WA UDP was the first program of its kind in Australia. It was established by the WA Department of Health in 2016. The program aims to provide a diagnosis for people with complex and long-standing medical conditions. It mirrors the USA UDP model and utilises a multidisciplinary approach. It currently only accepts one new patient per month. For more information, please download the information booklet for parents and caregivers. 

The WA UDP currently focuses on children with undiagnosed conditions who meet all of the following criteria:

  • Are at least 6 months old.
  • Have chronic, complex and typically multisystem diseases.
  • Are well known to WA Health.
  • Have had multiple specialist assessments and hospital admissions.
  • Have clinical factors supporting the possibility of obtaining a diagnosis with current approaches, yet remain undiagnosed.


Geneticists are dedicated to diagnosing SWAN children. SWAN families can assist by consenting to have their child’s features and photos included in POSSUMweb (an Australian genetics database) as either an undiagnosed or as a specific rare disease (if known), without specific identification information. SWAN families will also be able to nominate if they would like their child’s details uploaded to international databases. This will assist with more SWAN children obtaining a diagnosis.


There are various prenatal and environmental causes of intellectual disability (ID). The most common cause is genetic. Genetic changes can be inherited from one or both parents and they often occur for the first time in a child. Understanding the genetic cause of ID can guide medical management and reduce the sense of isolation for families. 

There are close to 1500 genes associated with developmental disorders. Recent advances in genetic testing technology have revolutionised paediatric diagnoses. They allow us to test all 1500 genes in a single cost-effective analysis. However, despite testing all the known genes, up to 50-70% of children with ID remain without a genetic diagnosis. Each of these children can have up to three million unique changes in their genetic code, which can be challenging to interpret. In addition, there remain an estimated 2000 genes associated with ID still to be discovered.

Up to 50% of people diagnosed with ID have characteristic facial features. FaceMatch is a computer vision technology that outperforms senior clinical geneticists on a range of phenotyping tasks. The technology can be used to prioritise genes for genetic analysis and to match the faces of undiagnosed children. Identifying a second or cluster of individuals with the same facial features allows scientists to compare their genetic code and potentially discover new genes.

The project is led by Dr Tracy Dudding-Byth, Clinical Geneticist within the NSW Genetics of Learning disability service. Hunter New England Research Ethics Committee has approved the project. Information about FaceMatch, including privacy and security, is available on their website.

Who Can Participate?
Parents of children with intellectual disability (ID) who remain without a genetic diagnosis following a clinical geneticist’s review can participate in FaceMatch.

FaceMatch would be grateful if parents of children with ID who have a confirmed genetic diagnosis would consider contributing photographs to the project. This will improve the image database and help other families still searching for diagnoses.


Some children are not the same.
How do you find out why.

Every one has many genes.

You can not see them.

A changed gene

· can make your child sick


· can cause your childs disability.

Your child can get a test.

The test is done by specialist doctors.

A childrens doctor is a paediatrician.

A gene doctor is a geneticist.

Some times the doctor may

· find other people the same as your child

· find a name for it.


Do not feel like you are alone.

Talk to other parents

SWAN is a group of parents that can help you.

More information

Call     0404  280  441
Email     [email protected]



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