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For referring clinicians. Part of our guide to genetic testing and counselling in Australia.
Key takeaways
- Genetic testing overseas is now a routine part of genomic care in Australia, and samples sent to international laboratories are increasing.
- Overseas laboratories accredited to ISO 15189 through an ILAC-recognised body can sit within Australia’s requirements for genetic testing. The key question is accreditation, not location.
- Tests performed overseas generally aren’t eligible for Medicare, so patients should understand the cost before they commit.
- Privacy protections differ between countries. Europe’s GDPR treats genetic data as a special category, while protection in the United States varies by state.
- Ask how a laboratory accounts for ancestry, what it reports, how results are explained and how relatives can be tested if a significant finding emerges.
Why overseas testing is on the table
Genetic testing overseas is now a routine part of genomic care in Australia. At some point, most clinicians will receive a result from a laboratory in Europe or North America, whether through a referral pathway, a research collaboration or a patient who has chosen a test themselves. A national stocktake found that samples sent to international laboratories rose by 31% between 2011 and 2016/17. The authors noted the true figure was likely higher, because many samples bypassed the laboratories surveyed. As overseas testing becomes more common, it helps to understand what it offers and where a little extra care is needed, so that patients can make informed choices.
What overseas laboratories can offer
The main benefit is access. Some large international laboratories offer panels, rare disease tests or population-specific screening options that are not yet available locally. Their high testing volumes can also support efficient workflows and competitive pricing for privately funded tests. For someone with a rare condition in the family, this can shorten what might otherwise be a long search for the right test.
Going overseas does not have to mean compromising on quality. Australia’s Requirements for Medical Testing for Human Genetic Variation allow accredited laboratories to refer tests to laboratories accredited to ISO 15189 by a body within the International Laboratory Accreditation Cooperation (ILAC) arrangements. This means a well-run overseas laboratory can sit within a recognised quality framework. As a result, the useful question for clinicians is usually not whether a laboratory is overseas. It is whether the laboratory is accredited, experienced with the relevant genes, and clear about what it reports. Our patient article on what makes a genetic test clinical-grade explains these standards in plain language.
What to consider before referring
Funding is the first practical difference. Medicare benefits for pathology depend on the test being performed by an approved provider in an accredited laboratory, so tests performed overseas are generally privately funded. Patients should understand the cost before they commit.
Accreditation standards also vary between countries. NHMRC guidance notes that some overseas laboratories, particularly those selling directly to consumers, may not be required to meet the standards that apply in Australia. The national requirements add that when a result from a laboratory without appropriate accreditation will be used for clinical decisions, it should be confirmed in an accredited laboratory. Checking accreditation at the outset can save a patient from repeat testing later.
Privacy deserves attention because genetic information is sensitive and can also reveal something about relatives. Under Australian Privacy Principle 8, an organisation that discloses personal information overseas must take reasonable steps to ensure the recipient handles it consistently with Australian privacy law, unless an exception such as express and informed consent applies. Patients will reasonably want to know where their sample goes, what data the laboratory keeps, for how long, and whether it can be deleted.
Privacy protections for health information also differ around the world, and Europe’s are among the strongest. Under the General Data Protection Regulation, genetic and health data are special categories of personal data, and processing them is prohibited unless a specific exception applies, such as explicit consent or the provision of health care. In the United States, by contrast, protection is a patchwork. Federal HIPAA rules cover health care providers but not every testing company, and individual states have added their own genetic privacy laws, so the protections a patient receives can depend on which state the laboratory is in. Knowing where a laboratory is based, and which laws it operates under, is therefore a useful part of any referral decision.
Variant interpretation matters wherever testing happens. Reference databases draw mostly on people of European ancestry, so people from other backgrounds are more likely to receive a variant of uncertain significance (VUS), as we discuss in genomic equity. One analysis of multigene breast cancer panels reported uncertain results in 23.7% of White patients, compared with 44.5% of Black patients and 50.9% of Asian patients. For screening tests, however, guidelines limit how often these uncertain results reach patients. The American College of Medical Genetics and Genomics carrier screening practice resource recommends that only pathogenic and likely pathogenic variants are routinely reported, with a VUS reported only in limited circumstances, such as for the partner of an identified carrier and with the patient’s consent. Even so, given Australia’s diverse population, it is worth asking how a laboratory accounts for ancestry and what it does and does not report.
Questions worth asking
In practice, a few questions cover most of these issues. Start with support, because a result is only as useful as the conversation around it. Who will explain the result to the patient, and who can help if they need to revisit a decision years later? It is also worth confirming how samples are shipped and the expected turnaround. Finally, if a significant finding emerges, how will testing for relatives be arranged? Together with the answers in the FAQ below, these questions give a clear picture of whether a laboratory is the right fit.
How Genotype Health approaches this
Genotype Health partners with an internationally accredited clinical laboratory in Europe for its screening panels. Our Medicare-funded Core Carrier Screen, expected from December 2026, will be performed by an accredited Australian laboratory. Personal and health records are held in Australia, where Genotype keeps only the laboratory report and the patient report in line with Australian health information laws, and patients can ask the European laboratory to delete all of their genetic data (see how we protect your genetic data). The laboratory reports only findings on the ordered panel and does not report variants of uncertain significance. Every patient report is reviewed and approved by a Genotype genetic counsellor, and GPs can refer patients to us for testing or genetic counselling at any stage. Patients with questions can read sending your sample overseas: your questions answered.
Ready to refer?
Register on the Genotype Health partners’ portal to refer patients for screening and genetic counselling, follow each test as it progresses and find all your reports in one place.
Register for the partners’ portal
Prefer to refer from your clinical software? Send your referral through Medical-Objects secure messaging, using our provider ID HG2160000JT.
Frequently asked questions
Can I use a result from an overseas laboratory to guide care?
Yes, when the laboratory is accredited to ISO 15189 through an ILAC-recognised body and the test is within its scope. If a laboratory lacks appropriate accreditation, Australian requirements advise confirming the result in an accredited laboratory before using it for clinical decisions.
Will my patient receive a Medicare rebate?
Generally not. Medicare benefits apply to tests performed in approved Australian laboratories, so overseas tests are usually privately funded.
Will my patient receive a VUS from a screening test?
Usually not. ACMG guidance recommends that screening tests routinely report only pathogenic and likely pathogenic variants, with a VUS reported only in limited situations, such as for the partner of a known carrier with consent.
Can my patient’s genetic data be deleted?
This depends on the laboratory and the laws it works under. It is worth checking the laboratory’s data retention and deletion policy before referring, so the patient knows what to expect.
Do Australia’s life insurance protections apply to results from overseas laboratories?
Yes. Since 8 October 2026, life insurers in Australia cannot ask for or use genetic test results when deciding on cover, and the ban applies to genetic testing information generally, not only to tests performed in Australia. See genetic testing and your insurance.
How long does overseas testing take?
It depends on the laboratory and the test, so it is worth asking before referring. For Genotype Health’s screening panels, results are usually available about four to six weeks after the laboratory receives the sample.
What happens if a sample can’t be tested?
A small proportion of samples don’t contain enough DNA for a reliable result. For Genotype Health’s European laboratory, this happens with around 1% of samples, and we arrange a replacement kit for the patient.
How are relatives tested if a significant variant is found?
Relatives can usually be tested for the specific variant already identified, which is quicker and simpler than a broad test. When a Genotype Health screen finds a significant variant, relatives can have Family Variant Testing with results usually in about four weeks.
Related reading
- A guide to genetic testing and counselling in Australia
- Sending your sample overseas: your questions answered
- A GP’s guide to referring patients for proactive health screening
- A GP’s guide to referring patients for carrier screening
Sources
- National stocktake of genetics and genomics testing and activities: high-level summary, Australian Government Department of Health
- Requirements for Medical Testing for Human Genetic Variation, fourth edition, Australian Commission on Safety and Quality in Health Care
- Pathology services for health professionals, Services Australia
- Discussing direct-to-consumer genetic DNA testing, NHMRC
- Transferring personal information internationally, Clayton Utz
- General Data Protection Regulation, Article 9: processing of special categories of personal data
- Genetic data governance in crisis: policy recommendations for safeguarding privacy and preventing discrimination, Ramanan V et al., Brown University
- Reducing inequity in variant interpretation, Columbia Precision Medicine
- Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the ACMG, Gregg AR et al., Genetics in Medicine 2021;23(10):1793–1806
- Treasury Laws Amendment (Genetic Testing Protections in Life Insurance and Other Measures) Act 2026, Federal Register of Legislation
