A man with dementia comes to a private clinic accompanied by his wife. In the past he has been shown to have a mutation for the Huntington disease gene. He is now severely demented and cannot communicate. His wife is his authorised representative. During the course of these discussions, the neurologist has ascertained that the husband and his wife have not told their adult children or the patient's siblings of the risk. When the patient was admitted to hospital, the three adult children supplied names and addresses for contact in the event of deterioration. The neurologist and the social worker explain the risks to the wife but she refuses to notify her children of the risk.

If the children are notified of the risk then they can obtain testing and allow planning for the diseases onset as well as allowing for the early recognition of manifestations, such as treatable depression and cognitive changes. Should the clinic tell the children? What considerations should be made? Who should advise the children and what should they say?

This is one of the useful and interesting scenarios discussed in the new NHMRC Guidelines for Health Practitioners in the Private Sector on the Use and Disclosure of Genetic Information to a Patient's Genetic Relatives under Section 95AA of the Privacy Act 1988 (Cth) (Guidelines).

Application of the Privacy Act

  • The Privacy Act 1988 (Cth) applies to private sector Australian health providers.
  • National Privacy Principle 2.1(ea) states:

    2.1 'An organisation must not use or disclose personal information about an individual for a purpose (the secondary purpose) other than the primary purpose of collection unless:

    (ea)...the information is genetic information and the organisation has obtained the genetic information in the course of providing a health service to the individual:

    (i) the organisation reasonably believes that the use or disclosure is necessary to lessen or prevent a serious threat to the life, health or safety (whether or not the threat is imminent) of an individual who is a genetic relative of the individual to whom the genetic information relates; and

    (ii) the use or disclosure is conducted in accordance with guidelines approved by the Commissioner under section 95AA for the purposes of this subparagraph; and

    (iii) in the case of disclosure the recipient of the genetic information is a genetic relative of the individual...'
  • Section 95AA(2) of the Privacy Act 1988 (Cth) establishes that the Commissioner may, by legislative instrument, approve guidelines that relate to the use and disclosure of genetic information for the purposes of lessening or preventing a serious threat to the life, health or safety (whether or not the threat is imminent) of an individual who is a genetic relative of the individual to whom the genetic information relates.
  • The Guidelines apply to private sector organisations that have obtained genetic information in the course of providing health services to individuals.

The Guidelines

The Guidelines are as follows:

Guideline 1

Use or disclosure of genetic information without consent may proceed only when the authorising medical practitioner has a reasonable belief that this is necessary to lessen or prevent a serious threat to the life, health or safety of a genetic relative.

Guideline 2

Specific ethical considerations must be taken into account when making a decision about whether or not to use or disclose genetic information without consent.

Guideline 3

Reasonable steps must be taken to obtain the consent of the patient or his or her authorised representative to use or disclose genetic information.

Guideline 4

The authorising medical practitioner should have a significant role in the care of the patient and sufficient knowledge of the patient's condition and its genetic basis to take responsibility for decision-making about use or disclosure.

Guideline 5

Prior to any decision concerning use or disclosure, the authorising medical practitioner must discuss the case with other health practitioners with appropriate expertise to assess fully the specific situation.

Guideline 6

Where practicable, the identity of the patient should not be apparent or readily ascertainable in the course of inter-professional communication.

Guideline 7

Disclosure to genetic relatives should be limited to genetic information that is necessary for communicating the increased risk and should avoid identifying the patient or conveying that there was no consent for the disclosure.

Guideline 8

Disclosure of genetic information without consent should generally be limited to relatives no further removed than third-degree relatives.

Guideline 9

All stages of the process must be fully documented, including how the decision to use or disclose without consent was made.

Disclosure considerations for Medical Practitioner

The benefits of disclosure must be balanced with the potential risk of not disclosing.

The following benefits and risks associated with not disclosing are set out in the Guidelines.

Potential benefits of not disclosing

  • Avoids breaching confidentiality.
  • Avoids potential for disruption to patient/doctor relationship.
  • Avoids causing anxiety to relatives.
  • Potential to reduce harm to family relationships.

Potential risks of not disclosing

  • Relatives are left unaware of potential risk.
  • Potentially preventable harm cannot be averted.
  • Relationships within families may be damaged when relatives discover that information was not passed on to them.
  • Relatives who were not informed due to a deliberate decision by a health practitioner not to disclose may be distressed and experience harm as a result.

Serious threat to the life, health or safety

It will be difficult for medical practitioners to assess whether or not there is a 'serious threat to the life, health or safety' of a genetic relative.

Unfortunately, the Guidelines do not specifically state whether the scenario above was a 'serious threat to the life, health or safety' of the patient's children. The Guidelines do say that even if incurable, if they choose to have it, predictive testing for Huntington's disease would allow the man's genetic relatives the potential to plan for the disease's onset and the ability to make major life decisions and leaves open the possibility that disclosure could have been made in this case. However, in this scenario, the authorised representative changed her mind after being given more information.

Other Points to note

The legislation does not require a health practitioner to notify relatives.

Health practitioners must be vigilant in documenting the process of consent including:

  • Keeping records of when the patient was notified of implications which may arise from non disclosure of genetic information.
  • Any advice given.
  • Involvement of other professionals (eg GP, genetic counsellor).
  • Written consent.
  • If consent is withheld, reasons why.

Where consent is withheld, the Guidelines recommend that the authorising medical practitioner arrange for the patient to read and sign a written statement setting out that they were informed of the risks to genetic relatives, have chosen not to give consent and are aware that disclosure can take place without their consent (a template is provided in the Guidelines).

© DLA Phillips Fox

DLA Phillips Fox is one of the largest legal firms in Australasia and a member of DLA Piper Group, an alliance of independent legal practices. It is a separate and distinct legal entity. For more information visit www.dlaphillipsfox.com

This publication is intended as a first point of reference and should not be relied on as a substitute for professional advice. Specialist legal advice should always be sought in relation to any particular circumstances.