NSW Genetic Health Guidelines - Part B: Summary and practical guide
What are these Guidelines for?
These Guidelines were developed in response to changes to the HRIP Act and to HPP 10(1)(c1) and HPP 11(1)(c1) that provide for disclosure of genetic information to genetic relatives without the consent of the patient in certain circumstances. The change that was introduced through the Health Privacy Principles:
- allows use or disclosure of a patient’s genetic information, without the patient’s consent, in circumstances when there is reasonable belief that disclosure is necessary to lessen or prevent a serious threat to the life, health or safety of his or her genetic relatives;
- applies to organisations which include NSW public sector agencies, in particular public health organisations, and private sector persons; and
- does not apply to situations concerning genetic information that presents a serious threat to an unborn child. The patient’s consent to disclose his or her genetic information to a pregnant mother would be required if there was a serious threat to the unborn child.
Disclosure without consent has the potential to cause distress. Appropriately managing the patient or authorised representative in such situations is considered an integral part of duty of care and good practice.
When can disclosure without consent take place?
The Guidelines establish when, by whom and in what manner use or disclosure of genetic information may take place without patient consent, with particular reference to the statutory test set out in HPP 10(1)(c1) and HPP 11(1)(c1). That test provides for use or disclosure when:
- an organisation reasonably believes that there is a serious threat to life, health or safety of a genetic relative;
- the use or disclosure is necessary to lessen or prevent that threat;
- in the case of disclosure, the recipient of the genetic information must be a genetic relative of the individual of whom the genetic information relates; and
- the use or disclosure is in accordance with guidelines, if any, issued by the NSW Privacy Commissioner.
In the event that this statutory test is satisfied and the patient or his or her authorised representative has not given consent for use or disclosure, conveying this information to genetic relatives is permitted only if done in accordance with these Guidelines. The obligations created by the other HPPs (see Appendix 1) and duty of confidentiality are other considerations. The application of the Guidelines is considered in more detail below.
HPP 10(1)(c1) and HPP 11(1)(c1) do not create a legal obligation to use or disclose a patient’s genetic information.
As disclosure without consent represents a significant departure from normal practice and is only permissible in certain circumstances, medical practitioners may wish to consult their medical defence organisation before authorising disclosure.
To provide general guidance so that authorising medical practitioners may meet the requirements under HPP 10(1)(c1) and HPP 11(1)(c1) and act in accordance with the Guidelines, some scenarios are included in Part D. It should be noted that the scenarios are to assist compliance with HPP 10(1)(c1) and HPP 11(1)(c1) and the nine Guidelines given here. Acting in accordance with the scenarios does not necessarily protect against a breach of the HPPs or a breach of the duty of confidentiality.
How are the Guidelines applied?
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 (see pp 21-31).
When consent is withheld, the authorising medical practitioner will first need to determine whether there is a serious threat to genetic relatives, taking into consideration:
- the nature of the condition, its associated risks and treatment or care options; and
- the probability that a genetic relative may also have the condition or be a carrier of the relevant mutation, and the modes of inheritance.
If a serious threat to the life, health or safety of genetic relatives is identified, it should then be determined whether the potential to lessen or prevent the threat exists. Considerations include:
- whether the condition is preventable or manifestations treatable (e.g. whether the relatives can benefit from the information); and
- if the disease is incurable, whether knowledge of the condition would allow optimal management.
Before making a non-consensual use or disclosure, the authorising medical practitioner must form a reasonable belief that such an act is necessary to lessen or prevent the identified threat to genetic relatives. It must be determined whether a means other than use or disclosure exists to lessen or prevent the threat. The decision to use or disclose without consent must be made in good faith, with the health practitioners involved in the decision-making drawing on their experience, training and expertise.
Key points for good practice are to:
- 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 (see p 28-29);
- allow time for review of the decision and consider arranging genetic counselling before further discussion of use or disclosure when patients or their authorised representatives choose to withhold consent — unless the nature of the condition requires an urgent response (see p 28-29);
- discuss the basis of this decision and the process of disclosure with the patient or the authorised representative of the person if use or disclosure without consent is considered necessary
(see p 28-29); and
- be aware of the potential for patient distress and manage this appropriately.
The authorising medical practitioner may decide that disclosure should not proceed. This may be because:
- the requirements for disclosure without consent have not been met;
- all the requirements have been met but there are extenuating circumstances in the family to defer disclosure — in which case it may be appropriate not to proceed with disclosure without consent, or if appropriate in the clinical circumstances, to wait until the family’s situation changes;
- all the requirements have been met but the medical practitioner is unwilling to disclose — in which case the practitioner should consider identifying another medical practitioner to review the circumstances.
If disclosure is permissible but the health practitioner is unwilling to disclose, he or she should consult another suitably qualified and experienced health practitioner and consider whether it would be more appropriate for the information to be disclosed by another health practitioner.
Health practitioners have an ethical obligation to advise the patient or the authorised representative to inform relatives of the diagnosis, but are under no legal obligation to disclose the information to genetic relatives themselves, whether consent is given or not. As the law currently stands, there is no valid basis to suggest that a doctor could be liable for non-disclosure.
Whatever decision is made, the process of decision-making must be documented in writing, including details of the reasons for the decision.
What are the ethical points that need to be considered?
Specific ethical considerations must be taken into account when making a decision about whether or not to use or disclose genetic information without consent (see pp 15-20).
Reasonable steps must be taken to obtain the consent of the patient or his or her authorised representative to use or disclose genetic information (see pp 22-26).
In providing guidance on meeting the requirements of the HPPs, the guidelines aim to ensure that ethical considerations are taken into account throughout the process of decision-making concerning the use or disclosure of genetic information without consent.
A health practitioner has an ethical obligation to maintain the confidentiality of information about his or her patient. With genetic conditions, an ethical responsibility can also be seen to extend to the wider family so that every effort is made to encourage sharing of information with relatives at risk. Only if these efforts are unsuccessful and the patient or his or her authorised representative continues to withhold consent should the authorising medical practitioner consider using or disclosing genetic information as outlined in these guidelines.
Whether or not the patient agrees that genetic relatives should be notified, the process of sharing genetic information should aim to maintain respect, as far as is possible, for the autonomy and confidentiality of the patient and the genetic relatives.
Key points for good practice are to:
- explain to the patient the implications for genetic relatives and why they should be informed of any risk to them (see p 22);
- advise that in certain circumstances, use or disclosure may be made without consent (see p 22);
- consider referring patients to a health practitioner with expertise in conveying relevant genetic information or consult such an expert (see p 22-23);
- consider arranging timely genetic counselling for patients or referring them to an organisation that provides genetic counselling (see p 22);
- establish whether the patient is competent to make decisions concerning disclosure of his or her genetic information (an authorised representative can then be identified) (see p 23);
- take reasonable steps to enable patients who have impaired decision-making ability or are children or young people to be involved in decision-making (see pp 23-24);
- seek independent advice to ensure that the person’s best interests are respected if consent to use or disclose genetic information concerning an adult with impaired decision-making ability or a child or young person is sought;
- ensure attempts are made to ascertain what the patient’s wishes would likely have been before being affected by the disease if he or she is not competent to make decisions about disclosure of genetic information (see pp 24); and
- follow the principles and guidance given in the NHMRC guidelines on communicating with patients (NHMRC 2004a) and on providing patients with information (NHMRC 2004b) when communicating with patients (see p 15).
If consent is provided, the provisions under HPP 10(1)(c1) and HPP 11(1)(c1) are not applicable.
Who is responsible for decision-making and disclosure?
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 (see pp 25-26).
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 (see pp 26-29).
Where practicable, the identity of the patient should not be apparent or readily ascertainable in the course of inter-professional communication (see p 26).
If a patient withholds consent to use or disclose genetic information, timely review of the situation by a health practitioner with relevant expertise is needed to determine the nature of any threat to relatives and the necessity for use or disclosure to lessen or prevent the threat. It is required that a medical practitioner takes responsibility for the process as authorising medical practitioner, even if another professional (eg a genetic counsellor with requisite knowledge of the particular condition) takes on the role of disclosing health practitioner.
It is important that the decision to proceed with use or disclosure of genetic information is made only after discussion with experienced colleagues, even when the medical practitioner involved is experienced in the field. In such discussions, wherever practicable, the authorising medical practitioner should not reveal the identity of the patient either verbally or in writing.
Key points for good practice are to:
- seek advice on the nature of the threat to genetic relatives and on the necessity for disclosure without consent, from colleagues and relevant experts and/or committees. Document the outcomes of these discussions (see pp 25-29);
- refer the patient to another medical practitioner with the appropriate expertise or consult colleagues and outside experts if not expert in the field yourself (see p 26);
- organise discussion of the case so that all involved have time to prepare and document the outcomes of these discussions (see p 26);
- identify another medical practitioner who is able to fulfil the role if unwilling to undertake the role of authorising medical practitioner (see p 20).
How does disclosure take place?
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 (see p 31).
Disclosure of genetic information without consent should generally be limited to relatives no further removed than third-degree relatives (see p 32).
All stages of the process must be fully documented, including how the decision to use or disclose without consent was made (see p 32).
Many ethical concerns associated with disclosure can be mitigated through careful structuring of the way in which genetic relatives are contacted. Disclosure of genetic information needs to be sensitively handled with due consideration to the confidentiality of the patient, the preference of genetic relatives not to receive unsolicited information concerning their health, the autonomous right of genetic relatives to receive information affecting their future health, and the importance of offering genetic counselling.
The collection of contact details of genetic relatives must accord with the HRIP Act, particularly HPPs 1-4.
In order to disclose information to genetic relatives, health practitioners would generally not be permitted to obtain contact details of the genetic relatives without those individuals’ consent or by lawful authority.
Key points for good practice are to:
- continue to exercise a professional duty of care to the patient whether or not consent for use or disclosure is given (p 33);
- notify the patient that a decision has been made to disclose without consent and advise them when disclosure has taken place unless there is a contraindication (p 28);
- provide written information, which gives the recipient the opportunity to decide whether or not to seek further information (in some circumstances telephone contact may be more appropriate)
(see p 31);
- take steps to ensure that any information provided to genetic relatives does not directly identify the patient, the genetic condition or that consent was not given for the disclosure (p 31);
- consider using a step-by-step process of cascade contact if contemplating making contact beyond
first-degree relatives (p 32); and
- fully document all stages of the process, including how decisions were made. It is also important to document situations where a decision is taken not to disclose (p 32).
A sample letter that may be used as a template for contact or as the starting point for cascade contact is included in Appendix 2.
Framework for legal and ethical use or disclosure of genetic information
This framework is provided as a summary only and should be used in conjunction with the Guidelines.
- When a patient is assessed for a genetic condition that has the potential to have serious implications for genetic relatives, these should be discussed and the patient or the authorised representative of the person advised of the potential for genetic information to be used or disclosed without consent in certain circumstances.
- In situations where the patient’s decision-making ability is limited (e.g. due to the impact of the disease process on memory or understanding), reasonable steps are required to ensure that the patient’s understanding is as thorough as possible. It may be necessary to involve an authorised representative of the person (see explanation of terms on page 2). There are legislative differences between jurisdictions regarding the powers, rights and responsibilities of people in this role. Attempts should be made to ascertain what the patient’s wishes would likely have been before he or she became affected by the disease.
- Throughout this process a medical practitioner with appropriate expertise and a significant role in the patient’s care will take responsibility for decision-making. In seeking advice from colleagues, this professional should not reveal the identity of the patient.
- If disclosure without consent is to take place, the patient should be notified of this decision unless there is a contrary indication for doing so.
- All stages of the process should be documented, including reasons given if consent is withheld.
- If consent is provided, the provisions under HPP 10(1) (c1) and HPP 11(1) (c1) are not applicable. The HPPs (see Appendix 1) and common law apply.