Disclosure of genetic information to genetic relatives

21.18 Many submissions identified disclosure of genetic information to genetic relatives as an important issue for the Inquiry. In what circumstances should a patient or his or her doctor inform other members of the family about genetic information relevant to the latter’s health or well-being? For example, it has been suggested that before patients are tested they should be advised to consider carefully the persons with whom the test result should be discussed.^[20] If, following testing, the patient is unwilling to inform his or her relatives about results that may be important to them, should the doctor take steps to inform those relatives?

21.19 These issues have been referred to as ‘a looming area of medico-legal controversy’^[21] and have generated a great deal of comment in Australia and overseas.^[22]

The overriding responsibility of the clinical geneticist remains with the patient and not to any other family members and certainly not to society because of the public health effects of the mutant gene. Nevertheless, the question of whether a mutant gene present in one member of a family constitutes clear-cut danger to others in the family, thereby justifying warning family members regardless of a patient’s preference, has not yet been answered satisfactorily.^[23]

21.20 Some submissions suggested that there should be more latitude for disclosure to genetic relatives given that the adverse health consequences of some genetic conditions may be both serious and preventable.^[24] Other submissions expressed the view that the position with regard to disclosure in such circumstances should at least be clarified.^[25]

21.21 This section examines existing constraints on disclosure to genetic relatives arising from the duty of medical confidentiality and the application of privacy legislation. The section also discusses the legal and ethical duties that health professionals may owe to family members.

21.22 The Inquiry has concluded that privacy legislation inappropriately constrains health professionals’ decisions about the disclosure of clinically relevant information to genetic relatives. The Inquiry proposes reforms to remedy this situation, including amendments to the Privacy Act and the development of National Health and Medical Research Council (NHMRC) guidelines on this issue.

Assessing the need for reform

Disclosure and prevention of harm

21.23 In some circumstances, the disclosure of genetic information can prevent serious health consequences for genetic relatives by allowing the early detection and treatment of inherited genetic disorders. Issues surrounding the disclosure of information to genetic relatives may become increasingly important as further preventive measures become available to mitigate genetic risk.^[26]

[As] knowledge gained from genetic testing may enable effective prevention of some adverse outcomes … restricting the information to the single individual tested may fail to offer the opportunity for preventative action in other at risk family members.^[27]

21.24 Developments in genetic medicine have implications for the extent to which the confidentiality of the doctor and patient relationship should be given primacy over other ethical considerations. It is easier to argue that the information should remain confidential when genetic information reveals an inherited susceptibility to a disease that is not preventable than when denying access may place family members at increased risk of harm.^[28]

21.25 Clinical geneticists and others provided many examples of such situations in submissions to the Inquiry. Dr Graeme Suthers, the Head of the Familial Cancer Service in South Australia, referred to the following situation, based on an actual case (names have been changed).

Deidre has had breast cancer and has been shown to have an inherited mutation in the BRCA1 gene. Her mother, Marjorie, also had breast cancer and presumably carries the same mutation. Marjorie has a large extended family with many young women at risk of having the mutant gene and of developing early-onset breast cancer. Deidre had given me the address of her mother and had agreed that she (and other relatives) could be informed of the outcome of genetic testing. This would pave the way for genetic testing of Marjorie’s unaffected relatives. However, on receiving the test result Deidre changes her mind and revokes permission for this information to be released to her relatives. At this stage none of her relatives are aware that she has had a genetic test. Whose rights should prevail—Deidre’s right to the confidentiality of her test result, or Marjorie’s right to be informed of a result she doesn’t know about but which maybe life-saving?^[29]

21.26 The literature dealing with genetic information and confidentiality contains many other examples in which disclosure is clearly capable of averting significant health dangers.^[30] Professor Loane Skene has concluded that disclosure to genetic relatives is arguably most justified in the case of familial adenomatous polyposis (FAP). Other situations may be identified where the benefits for genetic relatives of knowing they are at increased risk are merely speculative and may not, therefore, be capable of justifying a breach of confidentiality.^[31]

21.27 In situations where there are benefits in informing genetic relatives, consent to do so may be obtained following discussion with the person tested. Existing ethical guidelines emphasise that when genetic information is to be shared with family members, the most appropriate person to make the initial contact is the individual who has undergone the genetic test.^[32] Submissions confirmed that it is standard clinical practice to request the individual’s permission to pass on relevant genetic information to relatives.^[33]

21.28 Disclosure to genetic relatives by, or with the consent of, the patient is obviously desirable. However, during consultations the Inquiry was informed of circumstances in which a patient will neither disclose the information nor consent to the health professional doing so, such as where family relationships have broken down irretrievably. While some patients may actively object to, or obstruct, the disclosure of information to genetic relatives, non-disclosure may also come about because of lack of interest, denial or practical barriers to communication.^[34] Dr Finlay Macrae, Head of Colorectal Medicine and Genetics at the Royal Melbourne Hospital, referring to genetic test results that confirm FAP, commented that:

Standard advice is that the affected and genotyped individual passes the information of the availability of predictive testing to at risk relatives. But some do not pass the information on to all relevant family members, for a variety of reasons. Avoidable deaths do occur because of this.^[35]

21.29 Other submissions and consultations emphasised situations in which there are strong ethical arguments for health professionals telling a genetic relative about the consequences for them of another person’s genetic test results. This is especially so where there is high risk of a genetically based cancer that is treatable.^[36]

Where voluntary genetic testing reveals that a sibling, son or daughter may face a substantial and quantifiable risk of a serious disease or disability, in circumstances where earlier interventions could alleviate or reduce the harm suffered, then there may be strong moral reasons for breaching confidentiality. Similar considerations would apply, even where genetic testing reveals that a genetic relative is only a carrier of a harm-causing mutation.^[37]

21.30 Similarly, the Human Genetics Society of Australasia (HGSA) considered that, with regard to highly penetrant heritable genetic disorders

doctors should consider the situation of the person’s relatives and try to ensure that they are informed if they are at increased risk of having inherited the disorder in question (or susceptibility to it).^[38]

The right not to know

21.31 While disclosure of genetic information has the potential to prevent harm to genetic relatives, decisions about disclosure should also take into account the fact that people have a ‘right not to know’ about their genetic risk.^[39]

21.32 Privacy NSW submitted that the wishes of genetic relatives not to know their genetic information are better respected if the patient has control over disclosure and is appropriately supported in making a decision as to whether or not to disclose the information to others. The Office of the Federal Privacy Commissioner (OFPC) observed that:

in some families the person best qualified to make a particular decision regarding disclosure to a relative is another member of the family or even a friend of the family. Alternatively, it may be impossible for family members to communicate at all, let alone about the implications of genetic test results affecting one of the family.^[40]

21.33 The Cancer Genetics Ethics Committee of the Anti-Cancer Council of Victoria has observed that:

With a condition like FAP, in which virtually all who carry a gene mutation develop cancer, and in which the cancer may be prevented, the strong presumption should be that the relatives will be grateful for being warned. The same presumption should not be made in a cancer such as breast cancer, where the risk of developing cancer … is less than 100% and there is no assurance of a successful medical intervention.^[41]

Need for clarity

21.34 Many submissions considered that the law and ethical guidelines in this area should be made clearer. Dr Roger Magnusson submitted that where there is a contest between a patient’s privacy and a risk of genetic harm to a third person, existing privacy laws are arguably deficient.^[42] He concluded that the current law on confidentiality and disclosure of genetic information is ‘unreasonably opaque’^[43] and suggested that it is one area ‘where some “genetic-specific” privacy regulation would be welcome’.^[44]

21.35 Several submissions expressed concern about the uncertainty of existing law dealing with doctors’ duties to genetic relatives^[45] and about its possible future development through case law or legislation.^[46] Associate Professor John MacMillan considered that, whatever the current position, in future it may be held by courts that doctors’ duties to genetic relatives are not discharged simply by informing their patient about the implications of genetic information for the patient’s relatives.^[47]

21.36 What is the legal position where the patient is unwilling to communicate with his or her relatives? In what circumstances does the law permit a doctor to take steps to inform genetic relatives about information relevant to their health? The law relating to these issues is discussed below, with reference to common law duties of confidentiality and the provisions of the Privacy Act and similar state and territory privacy legislation.^[48]

Duties of confidentiality

21.37 Doctors and other health professionals owe their patients a common law duty to maintain the confidentiality of information provided by patients.^[49] Where a doctor breaches this duty, the doctor may be liable for damages in tort, contract or for equitable breach of confidence. In addition, a breach of confidence may constitute unsatisfactory professional conduct and form grounds for proceedings before medical registration authorities.^[50]

21.38 The common law duty of confidentiality may be breached where there is an unauthorised use of information that is subject to the duty. This will occur where the information is used for a purpose inconsistent with the purpose for which consent was expressly or impliedly given.^[51]

21.39 In many circumstances, patients may be taken to have consented to disclosure of information, especially for purposes related to their own treatment, such as to other health service providers who assist the patient’s doctor in providing optimal care. However, disclosure by the doctor to facilitate diagnosis or treatment of family members cannot ordinarily be implied and is likely to breach the duty of confidentiality, unless the disclosure is covered by some exception recognised by law.

21.40 Exceptions to the common law duty of confidentiality permit disclosure of the information in ways that would otherwise infringe the duty. One exception is where a patient consents to the disclosure. It is the patient to whom the duty is owed and so he or she can choose to permit information to be released, including to facilitate the diagnosis or treatment of a genetic relative. A second exception is where there is a statutory obligation to disclose information. This is regularly exercised in the compulsory disclosure of certain notifiable diseases or other conditions for which there is a statutory register. It also includes compulsion to disclose information in court proceedings. A third exception permits the release of confidential information where to do so is in the public interest. The possible application of the public interest exception to genetic information is of particular relevance, and is considered below.

The public interest exception

21.41 It has been stated that the public interest exception to the duty of medical confidentiality ‘is notable for its extraordinary flexibility’.^[52] It can potentially be invoked to justify the disclosure of confidential patient information in a wide range of circumstances. Whether these circumstances might encompass disclosure of confidential information to genetic relatives is open to debate.

21.42 Some legal commentators believe that the public interest exception might be used in this way. On this view the public interest exception could cover cases where

the patient’s medical condition presents an infection risk to others, where a patient’s ill health renders him or her unfit to continue certain activities because others would be placed at risk, or where inherited genetic disorders should properly be disclosed to other family members.^[53]

21.43 However, there has been no reported Australian case in which disclosure of genetic information has been found to be justified, and other commentators have doubted whether the public interest exception would extend to the disclosure of genetic information. Professor Skene has concluded that the public interest exception may not always be sufficient to protect health professionals making disclosures of genetic risk to relatives because the harm is seldom imminent.^[54] Dean Bell and Belinda Bennett state that the existing case law requires that disclosure must be confined to ‘exceptional circumstances’, where ‘another’s life is immediately endangered and urgent action is required’^[55] or where there is a ‘real risk and consequent danger to the public’.^[56] They conclude that:

These limitations suggest that the public interest basis for disclosure to family members of a genetic condition has not, to date, been contemplated for a situation such as disclosure to a family member of genetic condition, both because such a condition will rarely, if ever, present an immediately life-threatening risk, and also because such disclosure would ultimately have to be disclosed to the family member rather than a responsible authority (although if the relative is not a patient of the doctors, it may be disclosed to that patient’s treating doctor).^[57]

21.44 It has been suggested that the factors that a court might take into account in weighing up a public interest claim include the effects of disclosure on the willingness of individuals to take advantage of genetic tests in the future, and the likely public health outcomes of such a policy.^[58] Roger Magnusson has stated that the scope of the discretion to disclose under the public interest defence to an action for breach of confidentiality is uncertain and probably requires resolution by the High Court.^[59]

A duty to warn?

21.45 In some circumstances it might be argued that a health professional has a positive ‘duty to warn’ third parties—even if doing so would infringe the patient’s confidentiality. Such a duty might be derived from common law principles relating to the tort of negligence, based on the concept of a duty of care. Submissions questioned whether Australian law imposed such a duty on health professionals.^[60]

21.46 Cases in the United States, and in particular Tarasoff v Regents of University of California,^[61]have established that, where there is a foreseeable risk of significant harm to an identified individual, doctors and other health professionals may have a duty to warn those individuals. Some United States cases involved genetic risks.^[62] The cases differ as to whether the doctor’s duty to warn can be satisfied by warning the patient that family members should seek medical care or whether a doctor has a duty to warn genetic relatives directly.^[63]

21.47 There is limited recognition in Australian law that a doctor may owe a duty of care to someone who is not a patient.^[64] In BT v Oei,^[65]the Supreme Court of New South Wales held that a duty of care was owed by a doctor to a patient’s partner in advising the patient in relation to the need for an HIV test.^[66] It has been suggested that a doctor or genetic counsellor may therefore owe a duty of care to third parties, which could be satisfied by explaining to the patient the implications of a genetic test for the future health of third parties, at least where disclosure by the patient could ameliorate the harm.^[67]

21.48 However, there is no legal authority for the imposition of a Tarasoff-style duty to warn in Australia. Professor Skene concluded in 1998 that arguments that doctors have a duty to warn genetic relatives are unlikely to be successful in Australia.^[68] Similar conclusions have been reached by other commentators.^[69]

21.49 The Inquiry does not favour reforms that would impose a duty of care on doctors or other health professionals to warn genetic relatives about genetic information relevant to them. In appropriate circumstances, doctors should be able to disclose genetic information without incurring liability but they should have no duty to do so. The policy reasons for not requiring disclosure of genetic information to relatives have been summarised as including

the negative impact that such a breach of confidentiality will have on patients’ willingness to seek genetic testing in the first place; the potential negative social, psychological, and financial impact that such information will have on the relative who receives the information; and the eugenic message that is conveyed by mandating such disclosures.^[70]

21.50 There are many practical difficulties in recognising a duty to warn. These include how to define the relatives to whom the duty is owed; determining how far health professionals are required to go in seeking to contact them; and the level of advice health professionals should give in order to discharge the duty.^[71]

21.51 As discussed below, the Inquiry recommends amendment of the Privacy Act to broaden the circumstances in which health professionals may disclose genetic information to genetic relatives without the consent of their patients. While this reform could make it more likely that courts in the future may impose positive duties to inform genetic relatives, the Inquiry does not support the development of a duty to warn.^[72]

Application of privacy legislation to disclosure

21.52 The Privacy Act imposes constraints on the disclosure of genetic information by doctors and other health professionals to genetic relatives of their patients.^[73] In particular, the Privacy Act appears to prohibit the disclosure of clinically relevant information to genetic relatives in circumstances where it is possible to argue there would be no breach of ethical or common law duties of confidentiality.^[74]

Disclosure to prevent ‘serious and imminent’ threat

21.53 Under the Privacy Act, disclosure of genetic information other than for the primary purpose of treating the person tested is generally permitted only with the consent of that person.^[75] Where consent is not obtained, a health services provider may generally disclose personal information to a relative only if this is necessary to lessen or prevent a ‘serious and imminent threat’ to an individual’s life, health or safety.^[76] This formula may have been derived from existing case law relating to the duty of confidentiality,^[77] but appears to leave less room for flexibility than is provided by the range of exceptions to the common law duty.

21.54 In most situations the consequences of someone not knowing about a genetic predisposition to illness may not be a sufficiently imminent threat to their life, health or safety to justify disclosure. The Office of the Federal Privacy Commissioner (OFPC) stated that:

The threat is ‘imminent’ if it is about to occur. This test could also include a threat posed that may result in harm within a few days or weeks. It is much less likely to apply to situations where the risk may not eventuate for some months or longer.^[78]

21.55 Legislation in the Australian Capital Territory, Victoria and New South Wales includes information privacy principles that also incorporate reference to ‘serious and imminent’ threat or risk.^[79] The Australian Health Ministers’ Advisory Council Draft National Health Privacy Code, released in December 2002, retains this formulation.^[80]

Disclosure ‘required or authorised by or under law’

21.56 The Privacy Act permits disclosure where ‘required or authorised by or under law’.^[81] It appears to be accepted that ‘law’ may include the common law.^[82] However, it is not entirely clear whether NPP 2.1(d) permits a doctor to disclose confidential information where the disclosure is covered by the public interest exception to the common law duty of confidentiality.

21.57 In an Attorney-General’s Department information paper, the Government acknowledged that the health profession had a strong respect for the confidentiality of health information and maintained sound privacy practices. The paper stated that the ‘legislation is not intended to interfere with those professional values and standards’.^[83]

21.58 On the other hand, the Explanatory Memorandum to the Privacy Amendment (Private Sector) Bill 2000 (Cth) stated that this provision of the Privacy Act was intended to cover situations where a law ‘unambiguously’ requires or authorises the use or disclosure of personal information.^[84] The application of the Privacy Act to disclosure of health information by doctors and other health professionals, in circumstances that may not breach common law or ethical requirements of confidentiality, may require clarification.

The Privacy Act and the duty of confidentiality

21.59 A disclosure that is permitted by the Privacy Act may none the less breach common law duties of confidentiality.^[85] In general, legislation is presumed not to alter common law doctrines unless a contrary intention is expressed.^[86] The Privacy Act does not express any intention to do so.^[87]

21.60 Further, the interests protected by duties of confidentiality do not coincide with those protected by privacy legislation. Duties of confidentiality generally arise in the context of specific relationships,^[88] most relevantly between health professionals and their clients. Medical confidentiality rests on the premise that there is a public interest in patients being candid with their doctors. Statutory privacy rights are not so limited.

21.61 The ambit of the duty of confidentiality and the Privacy Act also differ. For example, duties of confidentiality apply only to information that is ‘confidential in quality’.^[89] The Privacy Act applies to all personal information, whether of a confidential nature or not. In general terms, the common law duty of confidentiality may be breached where there is an unauthorised use or disclosure of the information covered by it.^[90] The Privacy Act deals not only with the use or disclosure of personal information, but also with the collection, quality, security and transborder data flow of information, as well as individuals’ rights of access to information about them.

21.62 Finally, medical duties of confidentiality may extend beyond the death of the individual to whom the duty is owed,^[91] but constraints on the use and disclosure of personal information under the Privacy Act apply only to information about a living person.^[92] For these reasons, it seems unlikely that the Privacy Act was intended to codify or alter the common law relating to duties of confidentiality.^[93]

21.63 The fact that a disclosure permitted by the Privacy Act may none the less breach common law duties of confidentiality is important in assessing the implications of amending the Privacy Act to broaden the circumstances in which health professionals may disclose genetic information. At present, the Privacy Act appears to be more restrictive of disclosure than the common law, depending on the uncertain scope of the public interest exception to the common law duty of confidentiality and the relevant provisions of the Privacy Act.

21.64 The Inquiry’s recommended reform of the Privacy Act (Recommendation 21–1 below) may reverse this position with respect to the disclosure of genetic information, and does not foreclose the possibility that disclosure permitted by the Act may be actionable at common law.^[94] The Inquiry leaves open the question of whether health professionals may, in future, require some form of statutory protection from actions for breach of confidentiality based on disclosure of confidential information in order to warn genetic relatives about their genetic risk.

Problems with the ‘serious and imminent’ test

21.65 The effect of NPP 2.1(e)(i) of the Privacy Act is that a health professional may disclose personal information to a genetic relative only if this is necessary to lessen or prevent a ‘serious and imminent threat’ to an individual’s life, health or safety.^[95]

21.66 There are strong arguments that the ‘serious and imminent threat’ test may be too restrictive. The requirement that a threat be ‘serious and imminent’ is not likely to be met by many known genetic conditions—given that most will take time to manifest.^[96] The fact that, in the case of some genetic conditions, the threat is not to a living individual but to future children, may also prevent genetic risks from satisfying this requirement.

21.67 The application of the ‘serious or imminent threat’ test to genetic conditions is considered to be problematic by Australian and overseas commentators.

The first aspect of this question is the degree of likelihood of having a genetic condition. That is, is a 50 percent likelihood of carrying a mutation of the BRCA1 gene sufficiently serious? The second element is the degree of likelihood that the genetic predisposition will lead to the actual physical manifestation of the disease. In other words, if having a particular mutation is associated with a 60 percent risk of developing a particular condition then is this sufficiently serious? Does it matter that this represents the known lifetime risk, rather than some imminent health risk? Other questions include whether the notion of harm should refer only to an individual’s health or also to situations of reproductive decision making?^[97]

21.68 Dr Finlay Macrae reserved special criticism for this constraint on disclosure. He stated that those who operate the Victorian FAP Register

feel disappointed and frustrated when their work is truncated by these ethical barriers to disclosure of life saving information—albeit not an imminent threat. The lack of imminency precludes more direct contact [with genetic relatives] at that stage according to the Privacy Laws, but does not preclude the development of cancer at a later stage which is not less lethal for its lack of imminency, and no less destructive within the family.^[98]

21.69 Another clinical geneticist argued that the right to individual genetic privacy ‘should not include the right not to disclose the information to another who would be harmed by such non-disclosure’ and that the obligation to disclose relevant information to genetic relatives should be more strongly emphasised.^[99] The HGSA stated that, with regard to highly penetrant heritable genetic disorders, doctors should consider the situation of the person’s relatives and try to ensure that they are informed if they are at increased risk.^[100]

Reform options

21.70 The Inquiry has considered a range of options to reform the application of the Privacy Act to disclosure to genetic relatives. These options include:

1. amending NPP 2.1(e)(i) to change the ‘serious and imminent threat’ test to a more permissive formulation; or

2. enacting a new NPP 2.1(e)(iii) to permit organisations to exercise a discretion, subject to guidelines issued by the NHMRC and approved by the federal Privacy Commissioner, to disclose an individual’s genetic information to a genetic relative, where such disclosure could reasonably be expected to lessen or prevent serious harm to the relative,^[101] or any other individual.^[102]

21.71 The simplest reform is Option 1. This would involve amending NPP 2.1(e)(i) to permit use or disclosure where necessary to lessen or prevent a serious risk to an individual’s life, health or safety, without the requirement that the threat be imminent. An advantage of this approach is that reform need not await the development of guidelines.

21.72 The proposal made to this effect in DP 66^[103] attracted considerable support in submissions and consultations,^[104] including from health professional and consumer organisations otherwise concerned to protect medical confidentiality. The Australian Medical Association (AMA) supported the proposal while stating that:

Consistent with the AMA’s Code of Ethics, however, such disclosure must be clearly justified and, in general, breaching patient confidentiality should always remain ‘the exception’ and not become ‘the rule’.^[105]

21.73 There was some opposition to the proposal.^[106] For example, the Genetic Support Council WA did not support the proposal because

there is limited empirical information to support the view that there is a significant number of cases that fall into this situation. Furthermore, there is likewise little information to sustain the view that with proper counselling, individuals will not disclose such information to genetic relatives.^[107]

21.74 In DP 66 the Inquiry recognised that simply amending NPP 2.1(e)(i) to change the ‘serious and imminent threat’ test to a more permissive formulation would have implications beyond the context of genetic information, by permitting disclosure of any personal information where disclosure is necessary to prevent or lessen a serious risk to an individual’s life, health or safety, even where the threat is not ‘imminent’. DP 66 requested comment on the possible wider consequences of such a reform on disclosure of non-genetic health information.^[108]

21.75 Some submissions favoured Option 2, in part because of concerns about the effect of amending NPP 2.1(e)(i) for disclosure of other categories of personal information.^[109] The OFPC favoured Option 2 and stated that there may need to be broader policy arguments to justify weakening existing privacy protection to the extent implicit in Option 1.^[110]

21.76 The New South Wales Health Department, while recognising that the Privacy Act should permit disclosure of genetic information to genetic relatives in a broader range of circumstances, stated that

enacting a new NPP to permit organisations to exercise discretion, subject to NHMRC guidelines and approved by a privacy commissioner, may be a preferable option, as it would allow guidelines to be developed specifically for disclosure of genetic risks. Amending privacy legislation to remove the criteria of ‘imminence’ would allow for disclosure of medical information in a wide range of circumstances, and for a wide range of medical conditions and would weaken the privacy protections currently in place.^[111]

Threats to third parties

21.77 The intention of the proposal made in DP 66^[112] was to permit disclosure where a genetic risk is not necessarily imminent, but failure to disclose could place the life, health or safety of a genetic relative at serious risk.^[113] In submissions and consultations it was suggested disclosure without consent might also be justified where disclosure of information to a genetic relative is capable of averting a significant health threat to someone other than a genetic relative.^[114]

21.78 For example, where there is a confirmed case of familial Creutzfeldt-Jakob disease (CJD),^[115] it may be argued that health professionals should be entitled to disclose to first-degree relatives the fact that a family member carries the gene associated with CJD.^[116] While there is no treatment or cure for CJD, disclosure may prevent the transmission of CJD to others through the exercise of reproductive choices by the relative or by warning health professionals about the risks of performing certain medical procedures.^[117]

21.79 The existing language of NPP 2.1(e)(i) refers to threats to ‘an individual’s life, health or safety’. It is not necessary that the disclosure lessen or prevent a threat to the person to whom disclosure is made. The Inquiry does not recommend that NPP 2.1(e)(i) be amended to refer expressly to threats to genetic relatives but rather that it should continue to cover threats to any known individual.

Harm from reproductive choice

21.80 Disclosure of genetic information may be capable of averting a significant health threat to an unborn future relative by informing the parents’ reproductive choices such that children are not born with genetic disorders.^[118] The Inquiry does not favour permitting disclosure solely to avert harm that may result from the exercise of reproductive choices, as suggested in some submissions.^[119]

21.81 The threat of harm through the exercise of reproductive choice is too remote to justify departure from existing privacy protection and duties of medical confidentiality. It is one thing to justify disclosure of information to prevent harm to a known living individual. It is another to attempt to justify it on the basis that an individual might be born with certain genetic or other characteristics in circumstances where the individual might not have been born if the parent had known certain facts.

21.82 In practice, difficult questions would inevitably arise about whether the prospect of giving birth to a child with a certain genetic condition is a sufficiently serious outcome to justify breaching privacy. Another relevant factor is that there is no community consensus on the ethical considerations surrounding individuals’ decisions about the use of contraception, pre-implantation genetic testing or the termination of pregnancy. Further, some people may not wish to know about relevant genetic risks.

Inquiry’s views

21.83 The Inquiry has concluded that there may be exceptional circumstances in which disclosure by health professionals of genetic information to genetic relatives without the consent of their patient should be permissible and that privacy legislation inappropriately constrains health professionals’ decisions about such disclosures.

21.84 Amending privacy legislation to broaden the circumstances in which health professionals may use or disclose genetic information might be criticised on the grounds that it could encourage breaches of duties of medical confidentiality. The first response to this concern is that, as discussed above, a disclosure permitted by the Privacy Act may none the less breach common law duties of confidentiality (or be grounds for professional disciplinary action).

21.85 In any case, it is the experience of clinicians and genetic counsellors that, in the vast majority of cases, patients are happy to involve their genetic relatives in the consultation or follow-up process to a genetic diagnosis.^[120] Even if the Privacy Act (or common law) were to be reformed to be more permissive of non-consensual disclosure of information to genetic relatives, breaches of confidentiality would not be the norm.^[121]

21.86 Another concern relates to the need to recognise that some people may not wish to know about their genetic risk. However, if the circumstances in which disclosure is permitted are limited to situations where it is necessary to lessen or prevent a serious risk, it is reasonable to assume that only rarely would individuals not wish to know about the risk. Recognition of a right not to know should not be a barrier to reform in this area but is an important matter to be taken into account in guidelines to assist health professionals to make decisions about disclosure, as discussed in the following section of this chapter.

21.87 The Inquiry recommends that the Commonwealth amend the Privacy Act so that use or disclosure of genetic information by a health professional is permitted where the health professional reasonably believes that the use or disclosure is necessary to lessen or prevent a serious threat to an individual’s life, health, or safety, even where the threat is not imminent.

21.88 This recommendation could be implemented by either:

• amending NPP 2.1(e)(i) to change the ‘serious and imminent threat’ test to a more permissive formulation; or
• enacting a new NPP 2.1(e)(iii) to permit organisations to exercise a discretion, subject to guidelines issued by the NHMRC and approved by the federal Privacy Commissioner, to disclose an individual’s genetic information to a genetic relative where such disclosure is reasonably believed to be necessary to lessen or prevent serious harm to any individual.

21.89 Consistent amendment is also needed to the equivalent Information Privacy Principle (IPP 11), which applies to doctors or other health professionals working for Commonwealth government agencies. The Inquiry also recommends that state and territory governments consider parallel amendments to state and territory privacy legislation (see Recommendation 7–1 to 7–3).

Guidelines on disclosure to genetic relatives

21.90 One way to implement the recommendation above would be to enact a new NPP 2.1(e)(iii) to permit organisations to exercise a discretion to disclose genetic information to genetic relatives, subject to guidelines issued by the NHMRC and approved by the federal Privacy Commissioner. Even if this is not the chosen mechanism of reform, guidelines are desirable because it is not possible to provide sufficient guidance in legislation on how health professionals should approach decisions about the disclosure of genetic information to genetic relatives.

21.91 The circumstances in which it may be justifiable to disclose genetic information are not easily defined and may require detailed consideration of specific genetic conditions, including details about their penetrance and expression, the prevention and treatment options, and the extent to which the patient has been counselled to disclose relevant information directly.

21.92 The OFPC observed that an attempt to legislate exhaustively on permissible disclosure ‘would be defeated by the multiplicity of situations which could arise and by future scientific advances’.^[122] In comparison, guidelines are capable of accommodating the impact of rapid technological advance in genetic medicine and taking account of the multiplicity of factors relating to risk, or perceptions of risk.^[123] Other submissions suggested that the exceptions to confidentiality should be governed primarily by ethical codes, rather than prescribed by legislation.^[124]

21.93 A further reason that guidelines on the disclosure of genetic information by health professionals are desirable is to provide health professionals with additional protection from complaints or litigation. The fact that a disclosure was made in compliance with established guidelines would be evidence that it accorded with accepted standards of professional practice.

21.94 Submissions to the Inquiry strongly favoured the further development of guidelines on disclosure of genetic information by health professionals.^[125] The HGSA stated that it would welcome the development of ethical guidelines dealing with the application of privacy law to genetic information, with the Australian Health Ethics Committee’s involvement.^[126] The Centre for Law and Genetics stated:

The ethical justification of disclosure of serious disease to third parties is complex enough but in the area of genetics it has caused real concerns for health professionals. The degree of uncertainty and the developmental stage of the issues in this area prevent any more finite recommendations. This is an area that is appropriately dealt with by the development of guidelines that will allow both the clarification and the refinement of views in this area as well as the development finally of the guidelines themselves.^[127]

21.95 The Hereditary Bowel Cancer Group of the Cancer Council Victoria suggested that guidelines may even need to be ‘gene specific’.

[T]he disease risk (penetrance x risk of inheritance of the gene) to the individual to whom the disclosure is relevant should, in the Group’s judgement, be >25%, though some might argue for a lower figure. This risk would be influenced by other factors, including level of morbidity, mortality and preventability.^[128]

21.96 Clinical ethics committees might also have a role in giving guidance to individual health professionals in relation to the disclosure of information to genetic relatives.^[129]

Australian and overseas guidelines

21.97 Existing Australian codes of ethics do not deal with disclosure of genetic information to genetic relatives with any specificity, although an NHMRC information paper on human genetic testing recognised that:

there may be rare circumstances in which a health professional considers that the risk to the health of relatives is sufficiently large, serious, imminent and potentially preventable that consideration should be given to breaching the individual’s confidentiality.^[130]

21.98 The AMA Code of Ethics recognises that exceptions to the duty of confidentiality ‘may arise where the health of others is at risk’.^[131] The Code contains no guidance on the application of this provision.^[132] The Centre for Law and Genetics submitted that the Inquiry should ensure that exceptions to medical confidentiality recognised by codes of ethics properly reflect the family context of genetic information. In particular, the Centre suggested that the content of doctors’ ethical duties should be revised by the AMA to take account of genetic information.^[133]

21.99 An indication of the possible content of guidelines on the disclosure of genetic information by health professionals can be obtained from guidelines developed elsewhere. An important example of such guidelines are those issued in 1983 in the United States by the President’s Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioural Research. The President’s Commission proposed that disclosure to genetic relatives should take place only when

• reasonable efforts to elicit voluntary consent to disclosure have failed;
• there is a high probability both that harm will occur if the information is withheld, and that the disclosure of information will actually be used to avert harm;
• the harm that identifiable individuals would suffer would be serious; and
• appropriate precautions are taken to ensure that only the genetic information needed for diagnosis or treatment of the disease is disclosed.^[134]

21.100 In 1998 a sub-committee of the American Society of Human Genetics (ASHG) concluded that disclosure of genetic information by physicians to genetic relatives should be permitted in exceptional circumstances.

1. Disclosure should be permitted where: attempts to encourage disclosure on the part of the patient have failed; the harm is highly likely to occur and is serious, imminent, and foreseeable; the at-risk relative(s) is identifiable: and the disease is preventable, treatable, or medically accepted standards indicate that early monitoring will reduce the genetic risk.

2. The harm from failing to disclose should outweigh the harm from disclosure.^[135]

21.101 The ASHG statement includes an ‘imminent’ harm test. However, it is also clear from the context that the authors considered that disclosure may be justified in cases where the condition has not yet manifested but may be prevented.

21.102 In November 2001, a report of the Ontario Provincial Advisory Committee on the New Predictive Genetic Technologies recommended that further research be undertaken to determine whether disclosing genetic information to high-risk relatives against an individual’s wishes should be permitted. It was suggested that criteria to permit this disclosure should include the following:

• the interest in informing relatives strongly outweighs the interest in maintaining confidentiality;
• reasonable attempts to elicit voluntary disclosure are unsuccessful;
• there is a high probability of serious and irreparable harm to an identifiable person;
• the disclosure of the information will enable that person to prevent the harm and there is a high probability that the harm will occur if the information is withheld; and
• the disclosure is limited to the information necessary for the diagnosis and treatment of the third party.^[136]

21.103 In the United Kingdom, the Human Genetics Commission (HGC) has concluded that disclosure of genetic information without consent for the benefit of family members may be justified where the benefit of disclosure substantially outweighs the patient’s claim to confidentiality. The HGC stated that:

Such disclosure should be on the proviso that (1) an attempt has been made to persuade the patient in question to consent to disclosure; (2) the benefits to those at risk is so considerable as to outweigh any distress which disclosure would cause the patient; and (3) the information is, as far as possible, anonymised and restricted to that which is strictly necessary for the communication of risk.^[137]

New NHMRC guidelines

21.104 The Inquiry has concluded that new guidelines on the disclosure of genetic information to genetic relatives are required. The guidelines will need to address the often complex ethical tensions that surround this issue.

21.105 The ethical tension has traditionally been between a principlist approach, which champions respect for individual choice, and utilitarianism, which champions beneficial outcomes for families and communities. Within principlist ethics there are differences of view about the weight to be attached to respect for persons and the individual’s choice about disclosure, on the one hand, and to non-maleficence (acting so as to minimise harm), on the other hand. The experiences of families, provided in the form of narratives about how they have dealt with genetic information, are likely to give fresh ethical perspectives. In the development of the recommended guidelines, the status of traditional principles, the influence of family stories, and the increasing awareness of the community’s shared genetic heritage, will need to be considered. This is an example of how the nature of genetic information can compel a re-examination of aspects of the ethos of society and the expression of its ethics.^[138]

21.106 The form these guidelines should take will depend on the mechanism by which Recommendation 21–1 is implemented. Ideally, there should be a mechanism for recognising such guidelines within the fabric of the Privacy Act to minimise the possibility that a disclosure complying with ethical guidelines may nevertheless breach the Privacy Act. Amending the Privacy Act to provide for disclosure subject to guidelines issued by the NHMRC and approved by the Privacy Commissioner would provide this recognition.

21.107 However, while desirable, complete consistency between the Privacy Act and professional ethical guidelines relating to confidentiality is not essential. Health professional ethical guidelines and legislative privacy principles perform different functions. In the context of medical practice, the former focus on promotion of appropriate professional standards of practice and the latter on the rights of individual patients to exercise control over information about them. It is possible for a professional disciplinary body to find that a disclosure of health information constituted unsatisfactory professional conduct on the part of a medical practitioner in circumstances where the Privacy Act would permit disclosure. Similarly, a breach of the Privacy Act may not necessarily constitute unsatisfactory professional conduct.

21.108 The Inquiry has concluded that the NHMRC would be the most appropriate body to issue guidelines on disclosure to genetic relatives,^[139] whether under an amended Privacy Act or in accordance with s 7 of the National Health and Medical Research Council Act 1992 (Cth).^[140] The NHMRC has issued guidelines in related areas, notably guidelines for genetic registers.^[141]

Disclosure by government health authorities

21.109 DP 66 noted an alternative option for reform. Dr Roger Magnusson has suggested that a protocol could provide doctors and other health professionals with legal authority to disclose genetic information to a government health authority, as occurs in the case of HIV/AIDS.^[142] It would then be up to that health authority to take steps to inform the genetic relatives about their genetic risks. This option would not require an amendment to the Privacy Act or to state and territory privacy legislation because these Acts permit disclosure where ‘authorised by law’.^[143]

21.110 Under this approach, disclosure to genetic relatives should be permitted in circumstances where the test results carry clear implications for genetic relatives; early intervention could reduce the burden of disease in genetic relatives (or prevent transmission to the next generation); the burden of the disease is a substantial one; and counselling to encourage voluntary disclosure has failed.^[144]

21.111 The Department of Human Services South Australia suggested that the Inquiry should give further consideration to the notifiable diseases model because ‘it is not reasonable to ask a patient’s doctor to approach relatives, where their patient does not desire this’.^[145] The Law Institute of Victoria submitted a detailed proposal for the establishment of an appropriate body, with statutory powers and functions, that would develop guidelines for disclosure and determine, on a case-by-case basis, whether disclosure should be made and, if so, how.^[146]

21.112 The Inquiry does not favour these options. Such reforms would be cumbersome and resource intensive to implement, requiring the involvement of state government health authorities in order to permit sensible disclosure.^[147] Over time, the medical significance of genetic diagnoses for relatives is likely to increase. Involving the state in dealing with decisions about disclosure seems unnecessarily bureaucratic. While this mechanism may be appropriate in view of the public health implications of non-consensual disclosure of an infectious disease like HIV/AIDS, it is not clear that such a restrictive approach is justified in the case of disclosure of genetic information.