NSW Genetic Health Guidelines - Part C: Considerations when deciding whether to disclose without consent
3. PRACTICAL CONSIDERATIONS
3.1 Application for Guidelines
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.
Specific ethical considerations must be taken into account when making a decision about whether or not to use or disclose genetic information without consent.
These Guidelines establish when, by whom and in what manner use or disclosure of genetic information may take place without patientconsent. They are underpinned by:
- Guideline 1, which outlines the requirements of the statutory test set out in HPP 10(1)(c1) and HPP 11(1)(c1); and
- Guideline 2, which concerns the ethical considerations outlined in Chapter 2.
In the event that the 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 all of the Guidelines. Other considerations are the obligations created by the other HPPs (see Appendix 1) and duty of confidentiality.
This chapter outlines the process of applying the Guidelines and good practice, including:
- providing relevant information to patients or authorised representatives, including referral for genetic counselling as appropriate (see Sections 3.2.1 and 3.2.2) and provision of further information if consent is withheld (see Section 3.3.4);
- taking reasonable steps to obtain consent (see Sections 3.2.3 and 3.2.4);
- establishing who will take responsibility for the process if consent is withheld (see Section 3.3.1);
- involving other health practitioners with relevant experience in the decision-making process while maintaining patient confidentiality (see Section 3.3.2);
- determining whether the statutory test set out in HPP 10(1)(c1) and HPP 11(1)(c1) can be met and whether it is appropriate for disclosure to proceed (see Sections 3.3.3 and 3.3.5);
- providing only the necessary information and doing so in an appropriate manner, if disclosure is to proceed (see Sections 3.4.1 and 3.4.2);
- limiting disclosure to relatives generally no further removed than third-degree relatives and using a process of cascade contact to provide access to genetic information for a wider cross-section of the family (see Section 3.4.3); and
- accurately documenting the process (see Section 3.4.4).
3.2 Discussing use of disclosure of genetic information
3.2.1 Providing information about implications for genetic relatives
In any situation when confirmation of a genetic condition or predictive genetic information is likely, there should be discussion with the patient about:
- the implications for genetic relatives;
- the potential benefits of notifying genetic relatives or allowing the release of information; and
- the fact that there is legal provision for use or disclosure without consent in certain circumstances.
- The fact that this advice has been given should be documented in the patient’s record.
Consent is a continuing process. These early discussions support patients in exercising their choice and form the basis for later discussions about consent to disclose the patient’s genetic information to genetic relatives.
The HRIP Act requires that providers give notice to their patients about certain matters when they first collect health information. These matters include why the information is being collected, how it may be used and to whom it may be disclosed. The full notice requirements for the collection of personal information are set out in HPP 4 (see Appendix 1). It is therefore important to update patient information leaflets relating to the application of the HRIP Act to include possible use or disclosure of genetic information without consent. A sample patient privacy information leaflet is given in Appendix 2.
3.2.2 Genetic counselling
In situations where genetic information has implications for individuals and their families, patients may be referred to a genetics service. If this is not possible within a reasonable timeframe, for example because of distance or waiting lists, the treating medical practitioner can seek advice from the genetics service about an appropriate course of action. If the patient is distressed or the situation calls for immediate action, an urgent appointment or telephone counselling may be arranged.
3.2.3 Seeking consent for use or disclosure
Reasonable steps must be taken to obtain the consent of the patient or his or her authorised representative to use or disclosegenetic information.
It is important that health practitioners seeking consent in these situations have the appropriate expertise to do so. Those who do not may elect to refer the patient to a colleague with such expertise. Where timely referral is not possible (e.g. in rural or remote areas), the treating medical practitioner should seek advice from suitably qualified professionals about the condition and its implications for genetic relatives, without revealing the identity of the patient.
Patients should be given the necessary information and assistance regarding use or disclosure that complements information they have already been given about their own condition and/or treatment, and allows them to make an informed decision. Such information will include:
- which genetic relatives are likely to be at risk;
- the likelihood of each relative developing the familial disease (relevant factors may include age, gender, and degree of relationship with the patient);
- the likely threat to those relatives if they are not advised of their risk and therefore do not seek health advice;
- potential preventive and early intervention measures and possible benefits of these to genetic relatives;
- the availability of genetic counselling for the patient and family members;
- the patient’s involvement in the process; and
- the potential for information to be used or disclosed to genetic relatives without identifying the patient or condition.
In some circumstances, it may not be appropriate to seek consent from the patient, such as when:
- an individual has impaired decision-making ability (see below);
- seeking consent may itself cause a serious risk to the life, health or safety of the patient; or
- it is not possible to contact the patient.
Scenario 1 (see p 34) illustrates good practice in discussing use or disclosure in the more usual situation where consent is given.
Seeking consent from adults with impaired decision-making ability
Patients may have impaired decision-making ability due to a psychiatric illness or disability, intellectual disability, acquired brain injury, or some form of dementia. Impaired decision-making ability may be the result of the genetic condition of interest (e.g. dementia associated with the neurological degeneration of Huntington disease, Wilson disease, myotonic dystrophy).
Impairment to an individual’s capacity to consent may be a permanent or temporary condition. In some cases, it may only affect decision-making ability some of the time, for example where a person has a psychological illness that is episodic in nature. In other cases, the impact on the person’s decision-making ability may be incremental, such as with dementias. However, it may be the patient can make decisions about the handling of his or her genetic information, if they are provided with the necessary support.
A first step would be to assess the patient’s ability to give informed consent. Questions to consider include the following:
- Is the patient aware that he or she has the condition?
- Is the patient aware that his or her decision-making ability is impaired?
- Is the patient able to consent to inform genetic relatives?
- If not, would the patient have the capacity if enough time were spent explaining the issues in simple language?
It may also be useful to seek independent advice from a colleague or other relevant expert (e.g. psycho-geriatrician).
Involving the patient in decision-making
There may be difficulties in conveying the necessary information to patients with impaired decision-making ability, particularly if they attend consultations alone. The treating practitioner may encourage the patient to bring a spouse, relative, friend or advocate (such as a social worker or health worker with whom the patient is familiar) as a support person during consultations.
The HRIP Act adopts a common law approach to consent, whereby any individual with capacity may exercise choices over the handling of his or her personal information. Efforts are therefore required to ensure that every patient’s understanding is as thorough as possible. For patients who are not competent to make decisions concerning disclosure of their genetic information, attempts should be made to ascertain what their wishes were before they became affected by the disease (Bernat 2008). Even in situations where individuals lack legal capacity, they should be involved as far as practicable in the decision-making process.
Involving the authorised representative in decision-making
If it is determined that a patient is not capable of understanding relevant matters, an authorised representative of the person is generally involved. It is important that the authorised representative is provided with adequate advice, information and genetic counselling to assist them in understanding relevant matters and reaching an informed decision.
Scenario 4 (see page 36) describes a situation in which consent to disclose is sought from an authorised representative.
 See definition on page 2.
Seeking consent for use or disclosure of genetic information concerning children and young people
In situations where a genetic condition or genetic status is confirmed in a child or young person who lacks the capacity to consent, the HRIP Act requires the decision-making about sharing genetic information to fall with the authorised representative (e.g. parent or guardian).
Children may have a limited role in decision-making either because they are too young to understand or because they have mental impairment as a result of illness, injury or disability. Generally, older children should be encouraged to take a more active part in decision-making than younger children, although the responsibility for exercising the child or young person’s rights rests with the parent or guardian.
Involvement of a child or adolescent psychiatrist or psychologist may be of assistance, as these professionals are well placed to assist the parents and authorising medical practitioner by assessing the child’s emotional maturity and perception of the situation. Resources are also available to assist in talking to children about illnesses (e.g. Hennig 2009).
When parents refuse consent to disclose information to genetic relatives because they wish to protect the child with the genetic condition, health practitioners may need to seek independent advice or refer the family to a genetics service.
The fact that the patient is a child does not reduce the requirement for a health practitioner to carefully consider the implications of use or disclosure without consent for the patient both now and in the future.
The situation can be more complicated if there are adopted children or children born through artificial reproductive technology (ART) where gametes have been donated. The implications of contacting unknown genetic relatives to inform them of possible genetic risk would need to be carefully considered.
Scenario 8 (see page 40) describes a situation where the patient is a child and a parent decides not to give consent to disclosure.
When the genetic relative is a child
Issues of competency are also relevant when determining whether genetic information should be disclosed to a child. In situations where a child does not have the maturity to make his or her own decisions under the HRIP Act, disclosure to the child's parent or guardian is permitted.
3.2.4 Documenting the process of consent
Documenting the process of consent should include notation in the patient’s record of:
- when and by whom the patient or his or her authorised representative was informed of the implications of the identified condition or genetic status for the patient’s genetic relatives;
- involvement of any other professionals (e.g. GPs, specialists, counsellors, ethicists) in the consent process;
- written consent if given by the patient;
- if consent is withheld, the reasons given by the patient or the authorised representative; and
- any particular issues that may have had an impact on the consent process such as the patient’s language or capacity and what steps were taken to address these issues.
3.3 Following appropriate processes when consent is withheld
Most patients freely give consent for their genetic information to be disclosed to genetic relatives but, as discussed in Chapter 2, some may have reasons to withhold this information. In these situations, the patient’s decision should be respected by allowing time for review of the decision and considering referral of the patient to a genetics service. In circumstances where an element of urgency exists, it may not be possible for expert counselling to be provided at a face-to-face appointment (particularly in rural and remote areas) but telephone counselling and support should be available.
3.3.1 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.
A range of health practitioners may have a role in decision-making. However, throughout the process one senior medical practitioner will act as the authorising medical practitioner. The authorising medical practitioner should have a significant role in the care of the patient and will usually also take responsibility for disclosure. In some cases, he or she may choose to identify another professional to undertake the disclosure. In identifying professionals suitable for the role of authorising or disclosing practitioner, consideration should be given to whether they:
- have sufficient expertise in the relevant condition and its genetic basis to be able to determine whether a serious threat to the life, health or safety of genetic relatives exists and whether disclosure may lessen or prevent this threat;
- have legitimate access to this health information about the patient and family under the HPPs;
- must access expert advice from colleagues who have specific expertise (see Section 3.3.2); and
- have an understanding of the patient’s individual needs, the family situation and any factors contributing to the complexity of the situation (e.g. when a patient is a child or has impaired decision-making ability).
A medical practitioner must take responsibility for the process as authorising medical practitioner, even if another professional (e.g. a genetic counsellor with requisite knowledge of the particular condition) takes on the role of disclosing health practitioner.
It is essential that all health practitioners involved in the decision-making process have a clear understanding of their roles.
3.3.2 Taking a collaborative approach
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.
Where practicable, the identity of the patient should not be apparent or readily ascertainable in the course of inter-professional communication.
Use or disclosure of genetic information without consent involves consciously acting against the patient’s expressed wishes. It is therefore imperative that the decision to use or disclose is made only after discussion with experienced colleagues, even when the health 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.
On each occasion, discussion of the case should be organised so that all involved have time to prepare. When a face-to-face meeting is not possible (e.g. for professionals in rural or remote areas consulting specialists in other areas), telephone conversations or conferences may be required. The outcomes of each discussion should be documented, signed, and retained in the patient’s records.
In some circumstances it may also be advisable to seek ethical advice or consult a medical defence organisation.
Scenario 6 (see page 38) describes a complicated situation where considerable consultation between experts is needed to assess the necessity for disclosure without consent.
3.3.3 Decision-making about use or disclosure without consent
Is there a serious threat to life, health or safety of genetic relatives?
When consent is withheld, the authorising medical practitioner will first need to determine whether there is a serious threat to genetic relatives. A serious threat reflects significant danger to the individual and could include a potentially life-threatening situation or one that might reasonably result in an illness or psychological harm without timely decision or action.
Consideration of the seriousness of a threat to the life, health or safety of genetic relatives will include identification of which relatives are at risk. A one in two risk of developing a serious disease in a close relative represents a serious threat but lower risk in a more distant relative is less serious, particularly as the risk starts to approach that in the general population. In some circumstances such a quantitative approach will be possible. In many situations the estimation of risk will rely on a number of factors and a range of expertise will need to be involved.
Issues for consideration when determining whether a threat is sufficiently serious to warrant use or disclosure without consent include:
- 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.
Scenario 9 (see page 41) describes a situation where the risk to genetic relatives is difficult to define and other measures are available to assess the risk to genetic relatives making disclosure without consent unnecessary.
In some circumstances a serious threat to a genetic relative’s psychological health could justify use or disclosure without consent. For example, it may be warranted to lessen or prevent a serious psychological threat to a woman associated with repeated miscarriage.
Scenario 7 (see page 39) describes a situation where there is a risk of psychological harm to genetic relatives from both disclosure and non-disclosure.
Generally, under the HRIP Act, a risk of financial harm is not considered to be a serious risk to life, health or safety. However, in some cases, a risk to an individual’s financial status may result from psychiatric illness or dementia. Those psychiatric consequences may meet the test of a serious risk to life, health or safety.
Can the threat of genetic relatives be lessened or prevented?
Many inherited conditions can be treated and symptoms lessened. If a serious threat to genetic relatives has been identified, the treating practitioner, in consultation with colleagues, needs to determine 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 specific management, treatment of distressing manifestations (e.g. depression), and better understanding of the patient through recognition of cognitive and physical impairment (McCusker 2003).
Are use or disclosure without consent necessary?
Before making a decision about 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. Consideration should also be given to whether or not a means other than use or disclosure exists to lessen or prevent the threat (for example by including genetic relatives in a screening program).
The decision to use or disclose without consent must be made in good faith, with the practitioners involved in the decision-making on behalf of the organisation drawing on their experience, training and expertise.
Compliance with confidentiality requirements
Health practitioners should be aware that information that can be disclosed consistent with the HRIP Act and these Guidelines may still be subject to the duty of confidentiality that exist outside the HRIP Act framework. Health practitioners may wish to seek legal advice from a medical defence organisation before making a disclosure.
3.3.4 Providing further information to a patient who has withheld consent
If the authorising health practitioner believes that the disclosure is necessary to lessen or prevent a serious threat to the life, health or safety of a genetic relative, a further discussion should be held with the patient. By this stage, the patient will have had some time to come to terms with his or her own prognosis, may have attended genetic counselling and may have had a change of mind about contacting genetic relatives.
If not, discussion of the possible use or disclosure without consent should be initiated. This will include explanation of:
- the provision in legislation for health practitioners to provide information to genetic relatives in such circumstances;
- the basis of the authorising medical practitioner’s belief that a serious threat exists and that the release of the information is necessary to lessen or prevent this threat, including the expert advice of relevant health practitioners;
- the fact that the information would be shared without directly identifying the patient or the condition or genetic status;
- the treating practitioner’s continued duty of care towards the patient whether consent is given or not; and
- the continuing availability of genetic counselling for the patient, if desired.
The discussion should be factual and non-coercive, and can be reinforced with written information or other relevant materials. If consent is still not given, the patient’s reasons for continuing to withhold consent should be documented. It may be advisable to request that the patient reads and signs a formal statement acknowledging that he or she:
- has been informed of the risk to genetic relatives;
- has chosen not to give consent for use or disclosure; and
- is aware that use or disclosure can take place without this consent.
- A sample statement is included in Appendix 2.
If use or disclosure without consent is to take place, the authorising medical practitioner should notify the patient of this decision unless there is a contrary indication for doing so. The authorising medical practitioner should explain to the patient that if the patient is unhappy with the health practitioner's decision to use or disclose their genetic information without consent, and this difficulty cannot be resolved between the patient and the health practitioner, that the patient can make a complaint to the Information and Privacy Commission (see page 60 for further information).
The medical practitioner should be aware of the potential for patient distress and manage this appropriately.
Scenario 3 (see page 35) highlights the importance of ongoing provision of information, with the authorised representative of the person in the scenario deciding to pass on information to family members after several months of discussion and counselling.
In considering the details of a particular situation, the authorising medical practitioner may decide that disclosure without consent should not proceed. The decision not to proceed may be required under the HRIP Act, or may be an elective choice by the practitioner.
Non-disclosure when the guideline cannot be met
Disclosure without consent can only proceed if the Guidelines in this document are met. For example, the authorising medical practitioner may conclude that:
- there has been insufficient ethical consideration of the issues in this situation (see Section 2.3);
- there may be additional reasonable steps that could be taken to obtain the patient’s consent
(see Sections 3.2 and 3.3.4);
- he/she does not fulfil the essential criteria required of the authorising medical practitioner (see Section 3.3.1);
- there has been inadequate consultation with expert professionals (see Section 3.3.2);
- relatives are not at risk of a serious threat to life, health or safety (see Section 3.3.3);
- there are no interventions that could assist in the clinical care of the relative (see Section 3.3.3); or
- means other than disclosure are available to lessen or prevent the threat (see Section 3.3.3).
In any of these situations, the HRIP Act does not authorise disclosure without consent.
When the health practitioner chooses not to disclose or is unwilling to disclose
There may be situations in which the requirements of these Guidelines are met, but the authorising medical practitioner chooses not to disclose, for example when:
- there are extenuating circumstances such that disclosure may be of little benefit to relatives;
- other services are already undertaking notification of relatives; or
- relatives have already stated that they do not wish to have this information.
Other considerations might include:
- the emotional impact of disclosure on the patient (e.g. the potential for suicide or violence);
- the potential negative impact on the patient’s relationship with the family;
- the potential for disclosure without consent to erode the trust between the health practitioner and patient and the ramifications of this on ongoing treatment and counselling of the patient; and
- cultural factors (see Section 2.1.2).
In such situations, it may be appropriate not to proceed with disclosure without consent. Disclosure in the future may be possible if the patient changes his or her mind or the family situation changes.
It is important to remember that a health practitioner does have an ethical obligation to advise the patient to inform relatives of the diagnosis but is under no legal obligation to contact relatives about the diagnosis in the family.
Circumstances may arise in which disclosure of genetic information to genetic relatives without consent is permissible on the basis of the decision-making process and criteria included in the guidelines, but the health practitioner is unwilling to disclose (for example, because the health practitioner has a personal view that patient confidentiality should never be breached).
However, if disclosure is thought to be appropriate, the health practitioner should consult another suitably qualified and experienced health practitioner, keeping in mind the HPPs and the duty of confidentiality, and consider whether it would be more appropriate for the information to be disclosed by another health practitioner.
As the legislation does not compel a health practitioner to disclose information to a genetic relative, the question may be asked whether an aggrieved relative, who has not been notified about a risk for a serious genetic condition, can take legal action against the organisation or health practitioner. As the law currently stands, there is no valid basis to suggest that the organisation or health practitioner could be liable for non-disclosure.
Irrespective of the decision made, the process of decision-making in relation to disclosure must be documented in writing. The reasons for the decision must be detailed. The fact that the patient has been advised to inform relatives must be documented.
3.4 The process of disclosure to genetic relatives
3.4.1 How does disclosure take place?
Even after a decision is made to disclose without consent, the practicalities of doing so can be complicated. It is not possible for health professionals to ascertain objectively the extent of a patient's knowledge about other family members, making it particularly important to manage disclosure very carefully.
If the patient has not given consent for disclosure, the authorising medical practitioner will usually not have access to contact details for genetic relatives. While the collection of information about family members related to the direct care of the patient is an important part of history taking and often in making a diagnosis of a familial condition, this does not include the collection of identifying information such as contact details. The collection of contact details 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. This is because the contact details, when associated with information or opinion about the health of the genetic relative, may be ‘health information’ as defined in the HRIP Act.
A variety of circumstances will influence how contact takes place. Written contact gives the recipient time to consider whether to seek further information, and in this sense can be perceived as non-coercive. It is suggested that a request for verification of receipt be included with written contact (see the sample form letter in Appendix 2). In some cases telephone contact may be suitable (e.g. when the recipient may know that the condition exists in the family and information concerning the potential risk to themselves is likely to cause distress). However, it is not appropriate to leave messages concerning private information on telephone answering machines or with someone who is not the intended recipient of the information.
Not all people who have been contacted will respond. Repeated attempts should not be made to contact non-responders because they may have made a choice not to seek further information.
If disclosure without consent is to take place, in general, the patient should be notified of this decision and advised when the disclosure has taken place.
3.4.2 What information should be provided?
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.
Information provided to genetic relatives when first contacted should be worded in general terms but clearly indicate the importance of the communication. It 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 HRIP 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 identify the condition.
The information provided should not convey the fact that consent was not given for disclosure to genetic relatives.
A sample letter that may be used as a template is included in Appendix 2.
Scenario 5 (see page 37) describes a situation in which there is reasonable belief that disclosure is necessary to prevent harm to genetic relatives but difficulties arise in maintaining the confidentiality of the patient.
3.4.3 Process of cascade contact
Disclosure of genetic information without consent should generally be limited to relatives no further removed than third-degree relatives.
“Genetic relative” is defined as a person who is related by blood, for example, sibling, parent or descendant. Many genetic conditions involve more than the immediate family. A step-by-step process of cascade contact allows more genetic relatives to receive information about a genetic condition. Each genetic relative who is notified about their increased risk and makes contact with the disclosing health practitioner is asked for consent to contact his or her genetic relatives. When additional genetic relatives make contact, the process is repeated. This process can provide access to genetic information for a wider cross-section of the family.
The sample letter in Appendix 2 can be used as the starting point for cascade contact.
Scenario 2 (see page 35) describes a situation where the patient advises some family members to attend a genetics service and cascade contact is used to contact other genetic relatives.
3.4.4 What information should be provided?
All stages of the process must be fully documented, including how the decision to use or disclose without consent was made.
The process of disclosure with or without consent should be documented, including details of:
- preliminary discussions with the patient or his or her authorised representative concerning the familial nature of the condition or genetic status;
- the recommendation to the patient or his or her authorised representative that genetic relatives be notified;
- request for consent to disclose to genetic relatives;
- refusal of consent and reasons for it;
- the identity of the genetic relatives contacted; and
- the process used to contact those genetic relatives (including a copy of any letter mailed to them).
If consent has been withheld and disclosure considered necessary, an accurate record of how the decision to disclose without consent was attained should be kept. This includes:
- the process of seeking advice from colleagues and the outcomes of these discussions;
- the basis for the belief that there is a serious threat to the life, health or safety of genetic relatives; and
- the basis for the belief that disclosure was necessary to lessen or prevent the threat to the genetic relative.
Situations where a decision is taken not to disclose should also be documented.
3.4.5 Continuing support for the patient and family
The decision of a patient to disclose, or not disclose, genetic information to relatives should have no bearing on the availability and quality of continuing care to the patient. However, if genetic information is disclosed to relatives without the patient’s consent, the patient may prefer to have their continuing medical care provided by another health practitioner. The assurance of continuing care by either the same or a different health practitioner should be discussed with the patient.