What is Genetic Testing?


What is Genetic Testing?

In some ways, genetic tests are no different to medical tests that have been provided by pathology laboratories for over 150 years. These tests can identify the underlying nature or cause of a disorder, analysing things in the body which are not visible to the naked eye, or to any of the other senses. In this sense, genetic tests are simply an extension of routine pathology tests and do not require any special consideration.

On the other hand, there are some things that set genetic tests apart. First, they are new. Many doctors and patients are unfamiliar with the power and limitations of genetic tests, so we have developed this website to help bridge this gap. Second, a genetic test may carry significant predictive power i.e. the ability to predict the future health of a person. This possibility may raise medical, psychological, legal, and financial issues that may be unexpected for the doctor and patient. Finally, genetic testing often involves identifying a familial (or ‘heritable’) explanation for a disease. This may have significant medical implications for relatives who are not involved in the initial decision to have a test.

For these reasons, it is often appropriate for the doctor and patient to have a specific discussion about the broader implications of a genetic test before it is requested. We have provided a generic consent form which could be used to facilitate such discussions and ensure that doctor and patient understand the potential consequences of a genetic test.

The Australian National Health & Medical Research Council (NHMRC) has developed a guide to help healthcare professionals and patients understand the appropriate use of genetic tests.

Many specialists and general practitioners across Australia are becoming familiar with genetic testing and will be able to provide patients and relatives with information and advice. If specialist genetic advice is required, there are clinical genetics services in each State and Territory of Australia as well as a limited number of clinical geneticists and genetic counsellors in the private sector.