Articles and Case Studies

Genetic Testing

22 Feb 2013

MDA National Medico- legal Adviser, Dannielle Stokeld, reviews the medico-legal issues surrounding genetic testing.

Genetic testing presents a unique challenge for medical practitioners as the information resulting from assessment of an individual may be relevant not only to that person but also to relatives who share the same genetic heritage. Despite the potential benefits of providing this information to genetic relatives, the results of genetic testing are considered to be confidential health information pertaining to the patient. While some patients will either notify family members themselves or give consent to their doctor to do so, there may be circumstances where the patient does not give consent. In this situation, the results cannot be disclosed without the patient's consent in accordance with the provisions of the Privacy Act 1988 (Cth).

However, there is an exception for medical practitioners working in the private sector if they reasonably believe that there is a serious threat to the life, health or safety of a genetic relative of the patient and the use or disclosure to the genetic relative is necessary to lessen or prevent that threat.1 This is a high threshold and the medical practitioner must consider in each case whether this threshold is met to justify breaching their obligation of confidentiality to the patient. Importantly, disclosure without consent is generally recommended to relatives no further removed than third-degree relatives.2

Patient confidentiality and privacy

Medical practitioners can readily make the incorrect assumption that there has been a free flow of information about the results of a genetic test within the family. This can result in inadvertent breaches of privacy/confidentiality and caution must be exercised when medical practitioners are involved in the care of other family members.

Medical practitioners should ensure that they appropriately document their discussion with the patient in the medical records.The National Health and Medical Research Council's (NHMRC's) Medical Genetic Testing: Information for halth professionals3 provides useful guidance in this regard. The guidelines recommend that when disclosing genetic test results, medical practitioners should include a discussion of whether the results are definitive or suggestive, the clinical significance of the results, whether further investigations are necessary, the confidential nature of the results and the impact of the results on the future health of genetic relatives.

Disclosure without patient consent

New and emerging issues:

The introduction of direct-to-consumer (DTC) genetic testing presents a complex medical and medico-legal area, where the potential risks are still evolving. The results of DTC genetic testing are often difficult to interpret, and medical practitioners are advised to exercise caution when approached by patients who are seeking advice as to their results.

The NHMRC's recently released draft guide for general practitioners, Assessing the Direct-to-Consumer (DTC) Genetic Testing Results of your Patient,5 recommends medical practitioners ensure that they act within their clinical expertise, and if necessary, refer the patient to a specialist/s for further discussion, investigation and/or interpretation of the results.

For advice and further information, you can contact our 24 hour Medico-legal Advisory Service on 1800 011 255 or email

Where the patient indicates that they do not want genetic relatives informed of the results and the medical practitioner considers that disclosure without consent may be necessary, the NHMRC's Use and disclosure of genetic information to a patients genetic relatives under section 95AA of the Privacy Act 1988 (Cth)2 recommends that a medical practitioner should:

  • Allow time for the patient to review their decision and consider arranging genetic counselling.
  • Hold further discussions with the patient and ask that they reconsider the refusal of consent if there is reasonable belief that there exists a serious threat to the life, health or safety of a genetic relative.
  • Discuss the basis of their decision and the process of disclosure with the patient if use or disclosure without consent is considered necessary, unless the nature of the condition requires an urgent response.

While medical practitioners may act to facilitate the process of family communication by providing written information or agreeing to phone contact from the patient's genetic relatives, they must ensure that legal and ethical requirements regarding privacy and confidentiality are maintained.

The Medical Board of Australia's Good Medical Practice: A Code of Conduct for Doctors in Australia4 recognises that there are complex issues related to genetic information, stating:

3.4 Confidentiality and privacy
Patients have a right to expect that doctors and their staff will hold information about them in confidence, unless release of information is required by law or public interest considerations. Good medical practice involves:

3.4.3 Being aware that there are complex issues related to genetic information and seeking appropriate advice about disclosure of such information.

1 Privacy .Defence Update Summer 2011; 7-10. Available at:
2 Use and disclosure of genetic information to a patient's genetic relatives under section 95AA of the Privacy Act 1988 (Cth): Guidelines for health practitioners in the private sector (2009). Available at:
3 Medical Genetic Testing: Information for Health Professionals (2010). Available at:
Good Medical Practice: A Code of Conduct for Doctors in Australia, 3.4.3. Available at:
5 Assessing the direct-to-consumer (DTC) genetic testing results of your patient – a quick guide for general practitioners (2012). Available

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