People seek a genetic diagnosis or explanation for different reasons. There may be unexplained health concerns, an existing clinical diagnosis, or questions about whether genetics could explain what is happening.
The path to answers is not always straightforward. An explanation may come relatively quickly. For others, it may involve several specialists, different investigations or revisiting questions as symptoms change and new information becomes available. Waiting and living with uncertainty can take considerable time and emotional energy.
Care for symptoms and support with daily life and emotional well being are available while the search for answers continues.
A clinical diagnosis is made by a doctor using information about signs and symptoms, health history and an examination. Other investigations may also help.
A genetic diagnosis is made when testing finds a genetic difference that explains the condition.
These two types of diagnosis can work together. Sometimes a clinical diagnosis can be made even when testing has not found a genetic cause.
Sometimes genetic testing does not provide a clear answer
The cause may not yet be known, current tests may not be able to find it, or there may not be enough information to understand what was found. This does not make the health concerns any less real.
Genetic assessment and testing can happen in different parts of the healthcare system. A GP or specialist already involved in your care can help work out the most appropriate pathway.
Depending on the situation, a doctor may arrange investigations, refer to a clinical genetics service or recommend another specialist.
Our Could it be genetic? Page explains when genetics might be relevant and how to discuss your concerns with a healthcare professional.
If genetics may be relevant to a current or planned pregnancy, speak with your GP or a relevant pregnancy or reproductive healthcare professional. If you are already pregnant, this may include your maternity care team, obstetrician or fetal medicine service. Some assessments, tests and decisions can be time-sensitive.
Understanding where to start, how referrals work and what may happen next.
When several services are involved, you or your family may end up having to do much of the connecting the dots. Keeping a short, current health summary with important reports and test results can make appointments a little easier. But joining up care should not rest with you alone.
Getting a diagnosis can feel like forever. You can feel like you are you are in limbo. A diagnosis can tell you impoirtant things, but it also may not change treatment or day-to-day care. Try to focus on today…
A genetics referral is one possible next step. The service will review the referral and decide what care it can offer, whether more information is needed and how urgently an appointment may be required.
The genetics service reviews the referral to decide what care it can offer and how urgently you need to be seen. It may:
Waiting times vary between services and according to clinical priority.
It can also help to:
Your referring healthcare professional should receive the response from the genetics service.
Ask them to go through it with you and explain what the service recommends.
A declined referral is a decision about that service or its referral criteria. It is not a finding that your symptoms or concerns are not real. If the next step remains unclear, your referring doctor can discuss another clinical opinion, service or advocate.
If you are referred to a genetics service, the professionals involved will depend on your needs and the service you attend.
A clinical geneticist is a medical doctor with specialist training in genetics. They can assess possible genetic conditions, consider testing, interpret complex results and recommend care or further assessment.
Genetic counsellors are allied health professionals trained in both genetics and counselling. They can help you understand:
Other specialists, nurses, allied health professionals and primary-care clinicians may also be involved.
Some clinical geneticists and genetic counsellors work in private practice, either independently or together.
Private genetics care is an alterative to public genetic services. It is offered in different ways. An appointment may be with one clinical geneticist or genetic counsellor, or through a service that provides medical assessment, genetic counselling, testing and follow-up.
Before booking, it can be useful to check:
Do I need a referral, and how long is the wait (so that you can also compare to public services)
What will appointments, testing and follow-up cost? Will any Medicare or other rebates apply?
Who will explain the results, and what follow-up is included if there is no clear answer
The practice should explain how it will work with your GP or existing specialists, and whether you may need to see another professional.
Search for a genetics service near you
Centre for Genetics Education Service Finder →
Browse clinical genetics services by state or territory
Human Genetics Society of Australasia →
Understand what may happen at the appointment, what is useful to bring and which practical questions you may want to ask.
A genetics appointment is primarily a conversation. Your clinician will ask about your or your child’s health and development and your family health history. They will also listen to what you have noticed and what matters to you.
Depending on the reason for your referral, your appointment may also include:
Make sure to ask who you can contact if questions come up later, and how you can expect the clinic letter or consultation summary. This will become an important document for you.
You should be able to take part in care in a way that works for you. You can tell the service about any communication, access or support needs that would make appointments easier to take part in.
GeneEQUAL has free Easy Read booklets and videos about genetic healthcare, appointments and testing.
They use clear words and pictures and were developed with people with intellectual disability.
You can read them independently or go through them with a family member, support person or healthcare professional.
Explore all GeneEQUAL resources →
Taking in genetic health information can be a lot. You can ask for:
A support person can listen, take notes, remind you of questions and help explain what matters to you. The clinician should still speak directly to you and include you in decisions. Not speaking should never be assumed to mean not understanding.
Living further from specialist genetics services can mean extra travel, time away from work or caring responsibilities, and additional costs. If getting to appointments is difficult, ask whether telehealth, outreach, shared care closer to home or travel assistance is available.
Genetics care should respect your culture, community and preferences, including who you want involved in conversations and decisions.
You may wish to have an Aboriginal Health Worker or Practitioner, Aboriginal Liaison Officer, family or kin, an Elder, or another trusted person alongside you.
The National Centre for Indigenous Genomics has videos and other resources about DNA, genetic information and genetic counselling. These resources have been developed for Aboriginal and Torres Strait Islander people, with more resources being added.
Explore the National Centre for Indigenous Genomics resources
Genetic testing may be one part of the search for answers. Different tests look at different kinds of genetic information, and no single test can find every genetic condition or explain every health concern.
Everyone has many differences in their genetic information. Most do not affect health. When testing finds a difference, specialists consider whether there is enough evidence to connect it with the health concerns.
Testing may find a genetic cause, an uncertain result or no clear answer.
Even with a diagnosis, some questions may remain. It may not explain every symptom, predict the future or change treatment or day-to-day care.
Different tests look at different parts of our genetic information or at how the body is working. The most useful test depends on the health concerns, medical and family history, earlier results and the type of genetic change being considered.
Sometimes more than one test is needed. One result may also help guide what is investigated next.
This illustrated overview introduces some of the different types of tests used to investigate genetic conditions and what each type looks for. Open it full size or download it to save or print.
Each section explains what a type of test looks for, examples of tests you may hear about and where to find more information.
Our bodies are made of cells. Most cells contain a nucleus and many mitochondria. The nucleus is the part of the cell that contains most of our DNA. Inside the nucleus, DNA is tightly coiled and packaged into chromosomes.
Chromosomes are the packages that hold our DNA. Most people have 46 chromosomes, arranged in 23 pairs.
Chromosome testing looks for an extra or missing chromosome, or large sections of a chromosome that are missing, extra, moved or joined differently.
It is important to remember that we all have lots of small changes in our chromosomes, and extra and missing pieces. Often these variations do not cause any health or learning problems. A chromosome test is looking for such changes that may cause a health or learning problem, now or in the future.
Different chromosome tests find different sizes and types of change.
Learn more
Chromosome microarray testing in children and adults – Centre for Genetics Education →
Genetic and genomic testing – Queensland Genomics Resource Hub →
DNA carries genetic information in your cells and is made up of chemical ‘letters’. Genes are sections of DNA. Many genes contain instructions for making proteins.
DNA testing looks for differences in the order of the DNA letters, or for pieces of DNA that are missing or extra. These changes may affect how a gene works.
Genetic or genomic sequencing means reading the order of the DNA ‘letters’. Different tests read different amounts of DNA and look for different types of change.
We all have thousands of differences in our DNA sequence, so a test also tries to work out which, if any, of detected changes may cause a health or learning problem.
No single DNA test can identify every possible genetic change. Your doctor and genetic counsellor will help guide you for the best test or tests.
Learn more
DNA testing – Centre for Genetics Education →
RNA, or ribonucleic acid, helps cells read and use the instructions in DNA. Some RNA carries the instructions used to make proteins.
RNA testing looks at the message copied from DNA. It can show whether sections of the message have been joined together correctly. This joining process is called splicing. RNA testing can also show whether the expected amount of RNA is being made.
RNA testing may need to be done on a particular sample, such as blood, skin or muscle, because different genes are active in different parts of the body.
Learn more
Mitochondria are parts of cells that help produce energy. They contain their own small amount of DNA. Mitochondrial DNA, or mtDNA, is a small circle of DNA found inside mitochondria.
Mitochondrial DNA is passed on from the mother.
Cells contain many copies of mitochondrial DNA. Testing looks for changes in this DNA and may measure how much of it carries a change. This amount can differ between parts of the body, so blood may not always be the most useful sample.
Some mitochondrial conditions are caused by changes in mitochondrial DNA. Others are caused by changes in genes found in the nucleus, so DNA testing may also be needed if your doctor is looking for a mitochondrial condition.
Learn more
Genetic testing and mitochondrial disease – Mito Foundation →
Proteins carry out much of the work in our cells and bodies. Proteins, including enzymes, help control chemical reactions in cells, that are important for staying healthy. Metabolites are small molecules made or used in these reactions.
These tests often look for the effects of a genetic change rather than examining DNA itself. They may measure how much of a protein is present, where it is found or whether it works as expected. They may also measure how well an enzyme works or look for unusual levels or patterns of metabolites.
Learn more
Biochemical genetics tests – Sydney Children’s Hospitals Network →
How muscle-wasting conditions are diagnosed – Muscular Dystrophy UK→
Sometimes several genetic and non-genetic factors contribute to a person’s health concerns.
A test that does not provide a clear answer does not mean the health concerns are not real or rule out every genetic condition. Results may sometimes be worth reviewing later as knowledge and testing methods improve.
In most situations, genetic testing is a choice. Before deciding, you should be given information you can understand about what is being offered, what it may or may not tell you, and what it could mean for you or your child and family. You can ask questions and, where timing allows, take time to decide.
There may not be one right choice. Your circumstances, values, culture and what you hope to learn all matter. Your healthcare professional or a genetic counsellor can help you consider the options.
Having genomic testing, Genomics Australia
Understand what to consider before genomic testing, what the process may involve and what to expect.
Easy Read decision aid for genetic testing, GeneEQUAL
An accessible booklet and video to support people making a choice about genetic testing.
The rules around how genetic information can be used in risk rated insurance are changing on 8 October 2026. Until then, insurers may be able to use genetic test results for cover above certain limits. From that date, new protections will restrict their use of genetic test information. Family history and diagnosed conditions may still be considered. Check the current guidance if you are considering testing or changing cover.
You may find yourself carrying information between services. A short health and support summary can help, but coordinating care should not rest with you or your family alone.
Support can be based on what is happening now, not only on having a diagnosis:
You do not need an exact diagnosis to find people who understand.
If something important changes while you are waiting, tell the healthcare professional who referred you. This could include a new pregnancy or pregnancy plans where timing matters, new or rapidly changing symptoms, a significant loss of skills or function, or a new diagnosis or genetic result in a biological relative.
They can decide whether the genetics service needs an update and whether an earlier review may be needed.
If there is a sudden or serious change in health, do not wait for the genetics appointment. Seek medical assessment through your GP, treating team or emergency care as appropriate.
GAA’s Genetic Health Navigator can help you organise questions, understand common pathways and connect with relevant services and support. It cannot diagnose, choose or arrange testing, or interpret individual results.
Pregnancy and family planning when genetics are involved →
Life with a genetic, rare or undiagnosed condition →
