Human genome sequencing has allowed for the identification of the genetic links to a number of diseases and disorders. Genetic information obtained from an individual is now not only of relevance to the health of that individual but also to the health of their genetically related family. This article summarises Commonwealth and NSW legislation when deciding on whether to use or disclose genetic information.
In March 2014, the Privacy Act 1988 (Cth) (Privacy Act) was amended to allow health practitioners to use or disclose their patient's genetic information without their consent in specific circumstances as reflected in Australian Privacy Principle (APP) 6.2(d) and section 16B(4) of the Privacy Act. The National Health and Medical Research Council (NHMRC) issued guidelines for the 'Use and disclosure of genetic information to a patient's genetic relatives under section 95AA of the Privacy Act 1988 (Cth)' (NHMRC Guidelines). The NHMRC Guidelines are applicable to health practitioners in the private sector.
Similarly, following the amendments to Health Privacy Principle (HPP) 10 and 11 in the Health Records and Information Privacy Act 2002 (NSW) (HRIPA Act) which came into effect on 1 November 2014, the Information and Privacy Commission released NSW Genetic Health Guidelines entitled 'Use and disclosure of genetic information to a patient's genetic relatives: Guidelines for organisations in NSW' (NSW Guidelines). The NSW Guidelines (which largely mirror and were reproduced from the NHMRC Guidelines) specify the requirements which must be met by an organisation (which includes NSW public sector agencies, NSW public health organisations and NSW private sector persons) if they choose to use or disclose genetic information of their patient without the patient's consent.
Requirements of the legislation
Both the Commonwealth and NSW legislation allow for the use of a patient's genetic information without consent in circumstances where there is a reasonable belief that doing so is necessary to lessen or prevent a serious threat to the life, health and safety of another individual who is a genetic relative of the patient.
Pursuant to section 16B(4) of the Privacy Act, use or disclosure of genetic information is only permissible if:
- an organisation has obtained the information in the course of providing a health service to the first individual; and
- the organisation reasonably believes that the use or disclosure is necessary to lessen or prevent a serious threat to the life, health or safety of another individual who is a genetic relative of the first individual;
- the use or disclosure is conducted in accordance with NHMRC Guidelines approved under section 95AA; and
- in the case of disclosure the recipient of the information is a genetic relative of the first individual.
HPP 10(1)(c1) and HPP 11(1)(c1) of the HRIPA Act specify the legislative requirements of the use and disclosure of genetic information in NSW.
HHP 10(1)(c1) allows for an organisation to use genetic information without consent for a secondary purpose if the information is genetic information and the disclosure of the information for the secondary purpose:
- is to genetic relative of the individual to whom the genetic information relates; and
- is reasonably believed by the organisation to be necessary to lessen or prevent a serious threat to life, health or safety (whether or not the threat is imminent) of a genetic relative of the individual to whom the genetic information relates; and
- is in accordance with guidelines, if any, issued by the Privacy Commissioner for the purpose of this paragraph.
HPP 11(1)(c1) differs only to the extent that it deals with the disclosure (as opposed to the use) of the genetic information.
Disclosure of genetic information has the potential to cause distress to an individual and must be managed appropriately. Compliance with the NHMRC and the NSW Guidelines by organisations when considering the use or disclosure of genetic information is compulsory. It is important for practitioners to understand that neither the legislation or the guidelines create an obligation upon organisations to use or disclose the genetic information – they simply set out the requirements to be followed when a decision has been made in relation to use or disclosure without consent of the patient (or their authorised representative).
Both sets of guidelines specify that the exception to use or disclosure of the genetic information without consent of the patient does not apply to genetic information that presents a serious threat to an unborn child. In such circumstances a patient's consent must be obtained in order to disclose their genetic information to a pregnant mother that presents a serious threat to an unborn child.
The NSW Guidelines are summarised 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 interprofessional 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.
What is a serious threat to life, health or safety of genetic relatives?
In circumstances where the consent cannot be obtained, both the NHMRC and the NSW Guidelines provide that the medical practitioner must first determine if there is a serious threat to a genetic relative. There must be a reasonable belief by experts in the field that the threat reflects a significant danger to the individual, which may or may not be imminent. This could include a life threatening illness or the threat of a disease or psychological harm that may result in death or disability without timely decision or action.
- the nature of the conditions, its risks and treatment options; and
- the probability that the relative may also have the condition or be a carrier, and the modes of inheritance.
If a serious threat to the life, health or safety of a genetic relative is identified, the practitioner is then required to turn their mind to whether the potential to lessen or prevent the threat exists, including:
- whether the condition is preventable or treatable (ie. will the relative benefit from the disclosure); and
- if the condition is incurable, whether the knowledge allows for optimal management.
The guidelines impose a duty of good faith on the practitioner when making such a decision requiring them to draw on their experience, training and expertise. It provides the practitioner with some practical tips and ethical requirements of good practice, for example:
- take reasonable steps to obtain consent and advise the patient to contact relatives;
- hold further discussions with the patient and ask that they reconsider their refusal of consent;
- allow the patient sufficient time to think about their decisions and consider arranging genetic counselling;
- discuss with the patient the process of disclosure without consent and explain to them that disclosure can take place without consent;
- establish whether the patient is competent to make their own decision (including seeking independent expert advice if the person is determined not to be competent or the patient is a child/young adult);
- be aware that the process can cause the patient a great deal of distress and manage this appropriately;
- notify the patient that a decision has been made to disclose without consent; and
- fully document all stages of the process.
A health practitioner has an ethical obligation to their patient or their authorised representative to inform relatives of the diagnosis, but is under no legal obligation to disclose the information to genetic relatives themselves whether consent is given or not.
What information should be provided?
The NHMRC Guidelines states that 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 disclosure.
Information provided to genetic relatives should:
- not identify the patient or the genetic status or genetic condition that has been identified;
- simply state that a tendency to develop a potentially serious heritable disorder has been identified in the family;
- state that notification of relatives under such circumstances is permissible under the Privacy Act;
- suggest that the recipient use the contact details provided to receive further information (for example by taking the letter to their GP who could make contact for them);
- include details of the nearest genetic counselling services; and
- if possible, use a letterhead that does not identity the condition.
A sample template letter is provided in the Guidelines.
The legislation allows for disclosure of genetic information, but it does not allow for the collection, use and disclosure of the contact details of the relatives. Therefore, the practitioner will need to already have the contact details of the relatives or to have obtained them through lawful means.
The Guidelines recommend a procedure of cascading contact, in which the health practitioner obtains the consent of the relative to disclose to further relatives.
The Guidelines provide some examples of scenarios. Scenario 4 of the NSW Guidelines describes a situation where an authorised representative of the patient does not give consent for disclosure. In the light of the serious threat to genetic relatives, a decision is taken to disclose to the relatives without the consent of the authorised representative.
"A man with dementia came to a private clinic accompanied by his wife. In the past he had been shown to have a mutation for the Huntington disease gene. The husband was severely demented and could not communicate.
Assessment confirmed that he was unable to understand his situation and give consent to inform genetic relatives of their risk and his wife was identified as his authorised representative. Information about the implications of the diagnosis for genetic relatives and consideration of disclosure that would have been given to the patient was then given to his wife. During the course of these discussions, the neurologist ascertained that the patient and his wife had not told their adult children or the patient's siblings of this risk. When the father was admitted to hospital, the three adult children supplied names and addresses for contact in the event of deterioration.
Despite careful explanation from the neurologist and the social worker on a number of occasions, as well as by other clinicians when the husband was admitted to hospital, the wife (as authorised representative) continued to refuse to notify her children of their risk.
Points for consideration:
- What factors support disclosure in these circumstances? — The authorising medical practitioner has a reasonable belief that disclosure to the man's children is necessary to lessen or prevent a serious threat to the adult children's life, health or safety. The couple's adult children and other genetic relatives, if informed of their risk of inheriting the Huntington disease mutation, may wish to consider undertaking predictive testing.
Knowledge of this risk would allow planning for the disease's onset. If a predictive test is taken, the risk of inheritance is further clarified and may influence major life decisions, as well as allowing early recognition of manifestations, such as treatable depression and cognitive changes.
- What factors weigh against disclosure? — Despite counselling, the children's mother, as authorised representative for her husband, is adamant that the children should not be informed of their risk. Disclosing without consent is likely to irrevocably change relationships within the family. There is the possibility that adult children could be unduly distressed, that they may already have the onset of illness or could have a prodromal psychiatric illness. It is also possible that the mother may be refusing to disclose in order to conceal non-paternity.
- What information could be given to the patient? — In this case, reasonable efforts have been made to ensure that the patient's understanding is as thorough as possible. This included explaining the condition and the implications of disclosure using simple language. The neurologist then assessed the patient's ability to give informed consent. In this case the patient was severely impaired at presentation. When a person is judged as one who is unable to meaningfully consider and make a decision, reasonable efforts should be made to ensure that the person is, in fact, unable to understand this particular issue and its implications.
- What information could be given to the authorised representative? — As it has been determined that the patient lacks capacity to give informed consent, the wife as authorised representative should be given the necessary information and assistance regarding the disclosure to enable her to make an informed decision on the patient's behalf. Such information should include, for example, the likely threat to genetic relatives if they are not advised of their risk and therefore do not seek health advice, and the process for disclosure. It is important that the woman be asked to consider what her husband's wishes would have been. She could also be actively encouraged to seek further advice from a genetic counsellor.
- Who might be involved in decision-making? — The treating neurologist may elect to take this matter further by discussing with experienced colleagues whether or not to disclose in these circumstances. If there is reasonable belief that disclosure is necessary to lessen or prevent a serious threat, a decision may be taken to disclose without consent.
- How might disclosure take place? — In this case the couple's adult children could be contacted. Conditions such as Huntington disease are incurable and diagnosis can cause great anxiety. Before contacting the relatives, the disclosing health practitioner should be aware of interventions and actions that may help people who are dealing with the prodromal psychological consequences of being informed about the diagnosis, and of specific care for the relatives."
With developments in the area of gene technology and the increasing use of pathology testing and health data linkage we are at the threshold of dealing with legal and ethical issues associated with the collection, use and disclosure of genetic information.
The legislation, NHMRC Guidelines and the NSW Guidelines set out the framework to assist the health practitioners when deciding on whether to use or disclose genetic information. Medical practitioners should familiarise themselves with the relevant laws and guidelines to ensure that they understand and comply with the legislative requirements.
In order to avoid complaints and claims, if at all possible, it is recommended to seek to obtain the consent of the patient before disclosing their genetic information to their family members. In addition, some people may prefer to not know their genetic predisposition to hereditary diseases and this should be respected.
The content of this article is intended to provide a general guide to the subject matter. Specialist advice should be sought about your specific circumstances.