Everything you need to know about genetic testing and counselling
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Genetic testing has changed a great deal in the past decade. Tests that once took months and cost thousands of dollars are now faster and more affordable, and they can answer questions that matter for individuals and families, from planning a pregnancy to understanding a family history of heart disease. At the same time, the number of options can feel confusing, and it isn’t always clear where to start, what a result might mean or who can help make sense of it.
This guide brings everything together in one place. It explains what genetic testing and genetic counselling are, the main types of tests, what results can and cannot show, and how results can matter for relatives. It also covers how to access testing and counselling in Australia, what it costs, and how privacy and insurance work, so that anyone considering a test can make a decision that feels right for them.
At a glance
- Genetic testing looks for changes in genes that can cause or increase the chance of a health condition. Different tests answer different questions.
- Genetic counselling helps people understand their options before testing and what their results mean afterwards. It supports decisions rather than telling people what to do.
- Most people who have a screening test receive a result with no finding, and a positive result usually comes with a clear plan.
- Public genetic services are free with a referral but can have long waits. Private services offer faster access, usually with out-of-pocket costs.
- Since 8 October 2026, life insurers in Australia cannot use genetic test results when deciding on cover.
What are genes, and why do changes in them matter?
Genes are instructions, written in DNA, that tell the body how to grow, develop and work. Each person has two copies of most genes, one inherited from each biological parent. Small differences in these instructions, called variants, are part of what makes every person unique, and the vast majority have no effect on health at all.
A small number of variants, however, change how a gene works in a way that can cause a health condition or raise the chance of developing one. These are described as pathogenic, meaning disease-causing, or likely pathogenic. How a condition is passed on depends on the gene involved. In a dominant condition, one changed copy is enough to increase risk, so a parent with the variant has a 50% chance of passing it to each child. In a recessive condition, someone needs two changed copies to be affected. A person with one copy is called a carrier and is usually healthy, but if both biological parents are carriers of the same condition, each pregnancy has a 25% chance of being affected. Some conditions are linked to the X chromosome, which means they are passed on and experienced differently by males and females.
What is genetic testing?
A genetic test reads part of a person’s DNA to look for variants linked to health. The sample is usually a cheek swab, saliva or a blood test, and it is analysed by an accredited clinical laboratory. Modern tests can read hundreds of genes at once, but every test is designed to answer a particular question, so the genes it looks at and the results it reports depend on why it is being done. This is why choosing the right test, and understanding what it can and cannot find, matters as much as the laboratory technology itself. Our article on what makes a genetic test clinical-grade explains the standards to look for.
What are the main types of genetic testing?
Diagnostic testing
Diagnostic genetic testing is used when someone already has signs or symptoms, to find or confirm the genetic cause. A result can explain a condition, guide treatment and help work out whether relatives might be affected. Diagnostic tests are usually arranged by a specialist or a clinical genetics service. Whole exome and whole genome sequencing are two of the broadest diagnostic tests.
Testing for a known family variant
When a variant has already been found in one family member, relatives can have a targeted test for that specific change. This is often called cascade testing or Family Variant Testing. Because it looks for one or more known variants, it is quicker, simpler and usually cheaper than a broad test, and it can tell a relative whether they share the same risk.
Carrier screening
Carrier screening is for people who are planning a pregnancy or are in early pregnancy. It looks for recessive and X-linked conditions that could be passed on to children, even when there is no family history. The Royal Australian College of General Practitioners recommends that information about carrier screening is offered to all women planning a pregnancy or in the first trimester.1 In Mackenzie’s Mission, a national study of more than 9,000 couples, about 1 in 50 couples had an increased chance of having a child with a serious genetic condition.2 Medicare funds a basic screen for cystic fibrosis, spinal muscular atrophy and fragile X syndrome, and expanded screens such as Lineova look at hundreds of genes.
Proactive health screening
Proactive health screening is for healthy adults who want to know whether they carry a variant that raises the chance of a condition where early action helps, such as some inherited cancers and heart conditions. In Australia’s DNA Screen study of more than 10,000 young adults, about 1 in 50 carried such a variant, and around half had no family history of the related condition.3
A small number of the genes on Genotype Health’s proactive tests can affect health in two different ways. One changed copy of the gene can raise a person’s own risk of a condition that can be prevented or caught early, such as some inherited cancers. If both biological parents carry a change in the same gene, however, a child can inherit two changed copies, which causes a different condition that follows a recessive pattern. For example, one changed copy of BRCA2 or PALB2 raises the chance of some cancers, while a child who inherits two changed copies can develop Fanconi anaemia, a rare condition affecting the bone marrow. This means that, for these genes, a proactive screen gives someone information about an inherited risk they can act on for their own health, and also shows that they carry a condition they could pass on to their children. These conditions are not included in our Lineova carrier screen, and you can discuss with your genetic counsellor whether you would like to know about them.
Consumer DNA and wellness tests
Ancestry and wellness tests sold directly to the public are designed mainly for interest, and many use technology that is not reliable for the rare variants that matter most for health. In one study, 40% of variants reported in consumer raw data were not confirmed when retested in a clinical laboratory.4 Any health-related finding from a consumer test should be confirmed with clinical testing before it is acted on.
What is genetic counselling?
Genetic counselling is a conversation with a trained health professional who specialises in genetics. Genetic counsellors help people understand how genetic conditions are inherited, which tests might be relevant, what the possible results could mean, and how a result could affect them and their family. Counselling is non-directive, which means the counsellor doesn’t tell anyone what to do. Instead, they make sure the person has clear information and the space to make a decision that fits their own values and circumstances.
Counselling usually happens before a test, so people know what they are agreeing to, and after a test, so the result is explained and next steps are planned. It can also help in other situations, such as when someone is weighing up whether to have a test at all, is processing a relative’s diagnosis, wants a second opinion or would like to revisit a decision made in the past. Because genetic information is personal and sometimes emotional, a good counsellor pays attention to how someone feels as well as what they need to know.
When might someone consider genetic testing or counselling?
People come to genetic testing and counselling for many reasons. Some are planning a family and want to understand their chance of passing on a condition. Others have a family history of cancer, heart disease or another condition at a young age, or have learned that a relative carries a genetic variant. Some have symptoms that a doctor suspects could have a genetic cause. Increasingly, healthy adults choose proactive screening because they know little about their family’s health history, or simply because they would rather know about a risk early. Ancestry can also play a part, because some conditions are more common in particular communities, and tests tailored to ancestry can give more relevant results.
There is no single right time. For some people the trigger is a life event, and for others it is curiosity or reassurance. What matters is that the decision is informed and voluntary, and that support is available along the way.
What can the results show?
A genetic test can give a few kinds of result. A positive result means a pathogenic or likely pathogenic variant was found. Depending on the test, this might explain a condition, show a higher chance of developing one, or show carrier status. For a screening test, a positive result is not a diagnosis of disease, and many people with a variant never develop the related condition. A negative result means no relevant variant was found in the genes tested. This is reassuring, but it does not rule out every risk, because no test covers every gene and no genetic test is 100% accurate.
Some tests also report variants of uncertain significance. These are changes where there isn’t yet enough evidence to know whether they affect health, and they rarely change care. Genotype Health’s screening tests report only pathogenic and likely pathogenic variants, so results are clear and focused on findings that can be acted on. Our guide to understanding your genetic test report explains the common terms. Many people worry that a genetic result will cause lasting distress, but the evidence is reassuring: a meta-analysis of seven studies found no clinically significant psychological harm from receiving genomic results.5 We look at this and other common concerns in myths and fears about genetic testing.
How can results matter for family members?
Because genes are shared within families, one person’s result can be relevant to parents, brothers and sisters, children and sometimes more distant relatives. This is one of the most valuable aspects of genetic testing, because a single result can help several people take steps to protect their health. Relatives can choose to have Family Variant Testing for the specific variant found, which is quicker than a broad test. At Genotype Health, results are usually available in about four weeks.
Sharing results can feel daunting, and every family is different. Genetic counsellors can help someone decide who to tell and how, and they can provide letters or information to pass on. Relatives also have the right to decide for themselves whether they want to know, and that choice deserves respect. For the few genes on our proactive tests that can also cause a recessive condition, a result may matter for future children too. In that case, a genetic counsellor can explain what it means if a partner also carries a change in the same gene, and whether the partner may want to be tested.
How can people access genetic testing and counselling in Australia?
There are two main pathways. Public clinical genetics services, run by each state and territory, are free with a Medicare card and need a referral from a GP or specialist. They prioritise people with symptoms, a known family variant, a strong family history or a pregnancy-related concern. Because demand is high, waits for non-urgent appointments have been reported at up to nine months,6 and the Human Genetics Society of Australasia has reported waits of up to three years in some services.7 Public services reach regional areas through visiting clinics and telehealth, although in remote areas visiting clinics may be months apart.
Medicare also funds some genetic tests that a GP can request directly, including basic carrier screening. Private services offer genetic counselling and a wider range of tests, often by telehealth, with shorter waits and out-of-pocket costs. Many people use both, for example seeing a private genetic counsellor while waiting for a public appointment. Our guide to genetic testing and counselling for referring clinicians explains the public services in each state in more detail.
What does genetic testing cost?
Costs depend on the pathway and the test. Public genetics services are free for people with a Medicare card, and some tests requested through them are government-funded. A small number of tests attract a Medicare rebate when the eligibility criteria are met, such as basic carrier screening. There is currently no Medicare rebate for genetic counselling outside public hospital services, so private counselling is paid for by the patient.6 Many private tests, including expanded carrier screening and proactive health screening, are not Medicare-funded. When comparing options, it helps to check whether genetic counselling before and after the test is included in the price, as it is for Genotype Health tests. Our article on Medicare funding for genetic testing sets out what is covered.
What about privacy and insurance?
Worry about insurance has held many Australians back from testing, and the law has now changed. Since 8 October 2026, life insurers in Australia cannot ask for or use genetic test results, including results from relatives or research studies, when deciding whether to offer cover or what to charge.8 They can still ask about symptoms, diagnosed conditions and family medical history. Private health insurance is community rated, so a genetic test result does not affect it. Our guide to genetic testing and insurance explains the details, including what applies to existing policies.
Genetic information is also protected by Australian privacy and health records laws. Genotype Health stores its reports in Australia, and customers can ask for their genetic data to be deleted by the laboratory. Testing only happens with informed consent, after pre-test counselling. Read more about how we protect your genetic data and what happens when your sample is tested overseas.
How can someone decide whether testing is right for them?
Deciding whether to have a genetic test is a personal choice, and there is no wrong answer. Some people value knowing about a risk early because it gives them options. Others prefer not to know, or decide the timing isn’t right. It can help to think about what someone would do with a result, how it might affect their family, and what support they would want. Talking it through with a GP, family members or a genetic counsellor can make the decision clearer. It is also fine to take time, and a decision not to test now can always be revisited later.
How Genotype Health can help
Genotype Health is a profit-for-purpose genetic testing and counselling service, designed so that people can access expert genetic care without travelling. We offer carrier screening, proactive health screening, Family Variant Testing and private genetic counselling, with genetic counselling by phone or video. Samples are collected at home with a simple cheek swab and analysed by an accredited clinical laboratory, and results come with a plain-language report as well as the laboratory report. People can order a test themselves or ask their GP to refer them, so their GP also receives the results.
The easiest place to start is Tara, our AI assistant. Chatting with Tara is free and available at any time. Tara provides general information about genetic testing and about each of our tests, including the genes and conditions they cover and how the process works. Tara doesn’t recommend a particular test or interpret anyone’s results, so people with symptoms are guided to speak to a doctor, and anyone with a family history or more complex question is guided to our team or a genetic counsellor. Tara is available in English for now.
Not sure where to start? Chat to Tara
Tara can explain how genetic testing works, what each of our tests covers and what to expect, at any time of day and at no cost. When you’re ready, our genetic counsellors are here to help with anything more personal.
Explore this topic
- What makes a genetic test clinical-grade?
- How we protect your genetic data
- Genetic testing and your insurance
- What is genetic counselling? A plain-language guide
- Myths and fears about genetic testing
- Whole exome vs whole genome sequencing: what’s the difference?
- Family variant testing: what to do when a relative has a confirmed genetic finding
- Understanding your genetic test report: a guide to common terms
- Medicare funding for genetic testing in Australia
- Sending your sample overseas: your questions answered
Related guides: Carrier screening explained · Proactive health genetic screening · Hereditary cancer: a complete guide · Hereditary heart disease
Frequently asked questions
Do I need a referral for genetic testing?
Not always. Public genetic services need a referral from a GP or specialist. Many private tests, including Genotype Health’s screening tests, can be ordered directly, and a GP can also refer so they receive a copy of the results.
Can a proactive health screen tell me about conditions I could pass on to my children?
Sometimes. A small number of genes on Genotype Health’s proactive tests can raise a person’s own risk of a condition and, if both parents carry a change in the same gene, cause a different recessive condition in a child. For these genes, a result can show a carrier status that our Lineova carrier screen doesn’t cover. A genetic counsellor will explain what it means and whether a partner should be tested.
Is genetic counselling covered by Medicare?
Genetic counselling is free through public clinical genetics services. There is currently no Medicare rebate for private genetic counselling. Pre-test and post-test counselling are included with Genotype Health tests.
How is the sample collected?
Most screening tests use a cheek swab or saliva sample collected at home. Some diagnostic tests use a blood sample. Genotype Health uses a cheek swab kit that is posted to the person’s home and returned by post.
How long do results take?
It depends on the test. Many screening tests take about four to six weeks after the laboratory receives the sample. Testing for a known family variant is usually quicker.
Can a genetic test result affect my insurance?
Since 8 October 2026, life insurers in Australia cannot ask for or use genetic test results when deciding on cover. Private health insurance is community rated and is not affected by genetic test results.
Is a consumer ancestry test the same as a clinical genetic test?
No. Consumer tests are designed mainly for interest and are not reliable for the rare variants that matter most for health. Any health finding from a consumer test should be confirmed with clinical testing.
What is Tara?
Tara is Genotype Health’s AI assistant. It provides free, general information about genetic testing and our tests at any time. Tara doesn’t recommend tests or interpret results, and it guides people to our team or a genetic counsellor for personal questions.
References
- Royal Australian College of General Practitioners. Guidelines for preventive activities in general practice. 10th ed. Genetic screening [Internet]. Melbourne: RACGP; 2024 [cited 2026 Nov 5]. Available from: https://www.racgp.org.au/clinical-resources/clinical-guidelines/key-racgp-guidelines/view-all-racgp-guidelines/preventive-activities-in-general-practice/genetics/genetic-screening
- Kirk EP, Delatycki MB, Archibald AD, et al. Nationwide, couple-based genetic carrier screening. N Engl J Med. 2024;391(20):1877–89. doi:10.1056/NEJMoa2314768
- Lacaze P, Tiller J, Brotchie A, Nguyen-Dumont T, Steen J, Belluoccio D, et al. Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot. Nat Health. 2026;1(1):90–8. doi:10.1038/s44360-025-00020-x
- Tandy-Connor S, Guiltinan J, Krempely K, LaDuca H, Reineke P, Gutierrez S, et al. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med. 2018;20(12):1515–21. doi:10.1038/gim.2018.38
- Robinson JO, Wynn J, Biesecker B, Biesecker LG, Bernhardt B, Brothers KB, et al. Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies. Genet Med. 2019;21(12):2781–90. doi:10.1038/s41436-019-0565-3
- MBS Review Advisory Committee. Genetic counselling: final report [Internet]. Canberra: Australian Government Department of Health and Aged Care; 2022 Nov [cited 2026 Nov 5]. Available from: https://www.health.gov.au/sites/default/files/2023-04/mbs-review-advisory-committee-genetic-counselling-final-report_0.pdf
- Human Genetics Society of Australasia. Genetic experts call for more frontline staff to combat long waits for support [Internet]. HGSA; 2025 Apr [cited 2026 Nov 5]. Available from: https://hgsa.org.au/Web/News/Articles/HGSA250404.aspx
- Treasury Laws Amendment (Genetic Testing Protections in Life Insurance and Other Measures) Act 2026 (Cth). Available from: https://www.legislation.gov.au/C2026A00035/asmade/text
