Genetic testing looks for the presence of a certain type of gene or a change in a gene that tells you something. That something may be related to your current or future health, a current medical condition and how to best treat it, or your ancestry. Tests can look at all or some of your genes to answer a question.

There are many types of tests available which can be broadly categorised into:

  • medical, which require a physician referral to access
  • non-medical, which can be obtained directly from the provider

There are risks associated with any type of genetic test and it is important to understand those risks and what any potential result may mean for you and your family.

Data protection

Testing providers are a mixture of public and private and have a variety of obligations when it comes to the storage and use of your testing data. The rules and regulations of what can be done with your data vary from country to country and the same rules may not apply to a provider based outside of your country.

Some providers have specific requirements around data storage and privacy, while others are essentially free to do what they choose with your information.

It is important to know and understand how your testing results may be used in the future and who has access to it. Providers should have readily available information on their data policies. Personal information can also include consent and correspondence for testing. If you decide not to proceed with testing there may still be information collected about you and your health which should also be treated as private.

Results from genetic testing can be used for research or sold onto third parties for their purposes which may also include research. It is important to know and be confident that your private information will remain private and appropriately used in line with your preferences.

Genetic testing risks

The information gained from genetic testing can be transformative and lifechanging. Testing can identify unknown risks to your health, guide best treatment and help you make informed decisions about your health. Testing can also produce unexpected or undesirable results which can be distressing and have significant consequences for yourself and your family.

Each type of test has its own set of risks which need to be understood prior to testing. These risks include the reliability of the test, the tests utility or value, and unexpected results. It is important to know if the test you are taking is reliable and useful which may include the following:

  • Analytical value, how well the test confirms or predicts the presence or absence of a genetic variant/s.
  • Validity, what is known about the variant and probable effect on function and whether that effect on function has a beneficial, pathological, benign or unknown effect.  
  • Utility, whether the test can provide useful information about a beneficial change in function or the treatment, diagnosis and management of a condition.

Genetic testing can produce unexpected results be it with familial relationships or disease. Large panels like SNPs or WGS may identify unknown disease risk. Results may produce variants of unknown significance, the significance of which may change over time. Genetic testing may confirm the presence of a disease that will appear later in life with no known cure or provide results about the future health of your children. Testing may also not provide an answer.

The regulation of how tests are performed and interpreted may differ for each type of test and jurisdiction the provider resides in. There is a higher-level requirement for the validity and analytical value of medical tests compared to non-medical tests. A referral is often required for medical tests to help reduce risk and determine the utility of conducting a test.

A test that shows no genetic variants that will cause a condition. Does not necessarily mean that the condition will not still develop. There are many as yet undiscovered variants that cause disease. With some conditions developing from a combination of genetics and environment. There is still value in engaging in preventative health measures even after having a negative genetics test.

Genetic testing can provide invaluable information about your health and future. Genetic testing does come with a set of risks which need to be understood prior to testing. With general practitioners, genetic counsellors, and genetic specialists being able to provide advice on the risks and benefits of testing.

Pricing

The cost of testing may be covered by the public health system or upfront payment is required. Health insurance providers may cover the total or part cost of some tests. Non-medical tests typically require upfront payment and are not covered by health insurance providers. Some providers offer payment options for their tests.

The cost of tests varies between providers and the reliability and utility of a test is not necessarily reflective of the price.

Testing and sample requirements

Tests can be carried out on a variety of different samples. Some test providers will provide a salvia collection device via the post or at a clinic, others may require a blood sample which can be provided in the clinic.

Other tests may require a more invasive sample which depending on the test may include an amniocentesis, chorionic villus sampling and tissue biopsy. Collection of those types of samples may come with additional procedural risk.

Some jurisdictions and providers have specific policy around the use and storage of samples after a test is completed. With providers retaining samples for a period of time.

Testing and health insurance

Disclosure of genetic results to your current or prospective health insurance provider varies from country to country. Some insurance providers do require you to disclose genetic testing results and those results may result in a higher premium for health insurance and or being denied cover for certain types of conditions. This may be problematic in regard to some predictive type tests that suggest an increased risk for a condition that is yet to, or may not manifest.

In Australia there currently exists a moratorium on genetic tests in life insurance. Which means people can access a certain level of health insurance without being asked about the result of a previously taken genetic test. It is not within the scope of Future Genetics to provide advice on health insurance and genetic testing. Other than to suggest that prior to getting tested it is worthwhile to discuss with the ordering physician the insurance implications of getting a test and check with your health insurance provider.

As genetic testing becomes more widespread for screening, and predictive purposes there maybe future changes in how health insurance companies mitigate risk. 

Your results

A test will try to identify the presence of a single or group of genetic changes or look at the entire genome. Tests may also look at the chromosomal number and structure. The regulation of the genome itself, the epigenome can also be analysed.

Once the lab receives your sample the genetic material is extracted and analysed to determine the presence of a particular gene alteration/s. There are a variety of assays that are used with different types available to interrogate the genome and robustly identify alterations. Assay choice is provider dependent and is chosen based on lab preference and the potential alterations that are to be investigated.

Once the assay is completed the results are then analysed and compared to the current knowledge of that particular alteration. Analysis may be manually done with the results compared to the scientific literature and or algorithms are sometimes used to match the genotype with potential phenotype.

Results may be presented to you in layman terms or be in a technical format. Reporting can be variable for providers and the jurisdiction they reside in, thus the language used to describe the results may also be variable. Broadly results may be definitively causative (be it in a pathological or beneficial manner), probable, unlikely, benign or unknown.

Genetic testing regulation

In Australia, genetic testing is regulated through a combination of agencies that ensure the safety, accuracy, and ethical delivery of services. The Therapeutic Goods Administration (TGA) plays a central role, overseeing tests that are considered therapeutic goods. These include any item or service used in diagnosing, preventing, or treating diseases, or in assessing a person’s genetic susceptibility to illness. Whether a genetic test is classified as therapeutic depends on the nature of the test and its intended use. Sometimes, distinctions like “medical” versus “non-medical” testing are used.

When a genetic test is deemed a therapeutic good, Australian law requires that it be provided under the supervision of a qualified health professional. This professional must be involved in explaining the significance of the results and answering any questions the individual might have, regardless of whether the result is positive or negative. The intention behind this requirement is to ensure that consumers are not only informed but supported in understanding potentially complex or sensitive information. Direct-to-consumer access to these types of tests without any health professional involvement is not permitted.

Any therapeutic genetic test must be processed in a laboratory accredited by the National Association of Testing Authorities (NATA). This accreditation ensures that the laboratory meets strict standards for analysis, reporting, and the protection of personal information. The National Pathology Accreditation Advisory Council (NPAAC), along with the Royal College of Pathologists of Australasia (RCPA), contributes to setting and maintaining these standards, ensuring that best practices are followed across the pathology and laboratory sectors.

For those seeking to verify whether a particular test provider is properly accredited, searches can be conducted via the Australian Register of Therapeutic Goods (ARTG) and through NATA. However, this process can be complicated by the fact that some companies use third-party laboratories that operate under different names, or sell test kits under brand names unrelated to the provider. Because of these complexities, choosing a test in consultation with a healthcare professional not only helps ensure compliance but also provides assurance about quality and safety.

Internationally, some laboratories may hold certifications such as ISO 17025 or ISO 15189, which are recognised in Australia through mutual agreements. If a genetic test from an overseas laboratory is offered in Australia by an Australian-based company, then local regulations apply, including the requirement for professional oversight and accredited testing. However, if a consumer purchases a test directly from an overseas provider, Australian rules do not apply, and consumers may not receive the same level of protection or support.

Advertising of genetic tests is also regulated, particularly around the claims made regarding the test’s capabilities or benefits. These rules are designed to protect consumers from misleading or overstated marketing and to ensure that any promises made about what a genetic test can reveal are supported by evidence and consistent with its intended medical or scientific purpose.