Issues and problems

19.58 A number of ethical and privacy concerns are raised by aspects of the handling of genetic samples and information held in human tissue collections. The samples and information held in these collections have often been obtained for one purpose—such as pathology testing, newborn screening or other therapeutic use—and not explicitly for other, secondary purposes. Issues of consent and privacy arise when it is sought to use or disclose the samples or information for purposes for which consent may not have been obtained. Consent to the storage of samples in human tissue collections is discussed below, followed by discussion about the use of such samples in research and law enforcement.

Consent to storage

19.59 When samples are taken for pathology testing, consent to testing is obtained but consent to storage of the sample is not always explicit. Once stored, samples may later be used or disclosed for other purposes, some of which are related to the primary purpose of collection and others of which are not.^[75]

19.60 Many people are unaware that tissue samples collected for pathology tests are subsequently stored and might be used for other purposes. Almost all stored tissue samples will contain DNA, and some secondary uses may reveal information about an individual’s genetic status, health, parentage or kinship. The familial nature of genetic information means that information may also be revealed about members of his or her family, such as the mother named on a newborn screening card.^[76]

19.61 Submissions confirmed the general lack of community awareness about the storage of genetic samples.^[77] For example, the Association of Genetic Support of Australasia stated:

The community have little knowledge or understanding about the existence of stored samples from the Newborn Screening programs. Those who are aware are very concerned. This is a grey area which must be urgently resolved and community awareness increased.^[78]

19.62 When members of the public do become aware that samples are stored, they may become concerned about possible use or disclosure of the cards.^[79] These concerns sometimes lead individuals to request their own or their child’s newborn screening card from the hospitals where the cards are stored.^[80]

19.63 Submissions emphasised the need to obtain informed consent for the storage of tissue samples beyond the period for which it is necessary to retain them to carry out the primary purpose for which they were collected.^[81] The Centre for Genetics Education submitted that written consent should be obtained for retention of samples beyond that necessary for quality assurance.^[82] Other submissions argued that newborn screening cards should not be retained beyond the time necessary to conduct diagnostic tests.^[83] The New South Wales Legal Aid Commission questioned the legitimacy of retaining newborn screening cards beyond this time, noting that:

The retention of the cards after the testing has been completed conflicts with section 12 of the New South Wales Privacy and Personal Information Protection Act 1998, which provides that personal information must be kept for no longer than is necessary for the purposes for which the information may lawfully be used.^[84]

19.64 In contrast, Genetic Health Services Victoria noted that the ability to make retrospective diagnostic use of newborn screening cards was a reason to retain cards.^[85]

19.65 The storage and subsequent use of newborn screening cards is a particularly sensitive example of the consent problems raised by human tissue collections. The primary purpose of screening—the early diagnosis of treatable conditions—needs to be balanced with the need to obtain fully informed consent to storage and other possible uses. Obtaining explicit consent to the storage of newborn screening cards may have the unwanted effect of decreasing participation in screening programs. Parents might refuse to allow their child to be screened for possibly life-threatening but preventable disorders because they do not wish their child’s sample to be disclosed to the police later in life or used in research.

19.66 Submissions voiced concerns about the implications of requiring consent to the storage of newborn screening cards. The New South Wales Legal Aid Commission stated:

Up until the present time there has been almost universal participation in the new born screening program, as a result of the desire of parents to provide the best possible care for their babies. If the community becomes aware that the Guthrie cards are retained indefinitely, and becomes concerned about other uses to which the blood samples and information may be put, there may be some drop off in participation in this vital preventative health care program.^[86]

19.67 Genetic Health Services Victoria remarked that ‘[m]entioning potential forensic use at such a vulnerable time could lead to refusal which would be of potential harm to the baby’.^[87] The Inquiry has heard that some parents have refused newborn screening tests because of concerns about storage of samples.^[88]

Research use

19.68 Unlike samples collected as part of a research project, future research use of pathology samples and newborn screening cards is often not envisaged at the time they are collected. In many cases, consent to future research will not have been obtained, although some general consent forms do notify the sample provider that the tissue might be used in research. In some cases the lack of clear guidance on the use of samples, particularly newborn screening cards, for research may discourage researchers from seeking to use the cards.^[89]

19.69 Submissions expressed support for the use of human tissue collections for research. For example, the Victorian Breast Cancer Laboratory submitted:

Ethical research using [tissue banking and studies on archival specimens] is to be lauded, as quantum improvements in clinical outcome will result from studies that profile genetic changes in cancer and other disease states. … Public debate needs to be encouraged so that there is an appreciation of the importance of tissue samples for basic and clinical research. … The vast majority of patients are only too pleased to allow excess tissue obtained as part of their routine clinical care (that would otherwise be discarded) to be used for research.^[90]

19.70 The Association of Australian Medical Research Institutes and the HGSA stated that research should be allowed to continue on historical collections of tissue samples provided the samples are de-identified, the samples were collected in the course of diagnosis or treatment of diseases, and approval from an HREC is obtained.^[91] The Institute of Actuaries of Australia supported long-term retention of cards for research:

Guthrie cards collections provide unique and potentially invaluable genetic databases of children born in Australia in the last thirty years. Long term retention is essential.^[92]

19.71 The Department of Human Services South Australia suggested an approach that could be appropriate for research using newborn screening cards. The Department suggested that cards be in two sections, with the blood spot divided from the information on the card by perforations. The information could then be easily detached once there is no longer a need to retain the card for re-testing and quality assurance.^[93]

19.72 Many submissions emphasised the need to gain consent and ethics committee approval for research using stored samples.^[94] However, requirements to seek new consent were considered by some to constitute an unjustifiable administrative burden. Dr Nikolajs Zeps submitted that obtaining consent for each and every use of archival tissue would be ‘a logistical problem that would effectively stymie the function of routine pathology’.^[95] Some individuals from whom samples have already been taken may have died, or may be distressed at being reminded of a time when they were ill. On this issue, Dr Rosemary Balleine stated that ‘the propriety of contacting these patients in itself poses an ethical dilemma’.^[96]

19.73 Other submissions criticised the research use of stored samples without consent, even if de-identified. For example, the Androgen Insensitivity Syndrome Support Group Australia submitted that community attitudes frowned upon subsequent re-use for research purposes without specific consent.^[97] They also submitted that use of samples stored previously without consent ‘must surely fail any reasonable ethical or moral test’.^[98] Dr Trevor Kerr stated:

I would find it very disturbing if the state allowed unfettered access to material that once belonged to me, in order to give enormous profit to private organisations from products that are sold back to humanity.^[99]

19.74 Although de-identifying stored samples to allow their use in research does solve some problems, members of the National Public Health Partnership Genetics Working Group suggested that it might be unethical to de-identify cards if significant personal health information would be generated by the research, as de-identification prevents patients from being contacted if the research produces findings relevant to their health.^[100] The Children’s Cancer Institute of Australia agreed, stating that samples should be coded where possible, rather than de-identified, to enable linkages to be made between clinical data and research outcomes.^[101]

19.75 The HGSA summarised the options for dealing with consent to the use in research of tissue samples collected primarily for clinical purposes:

• Allow the collection and storage of clinical samples for research without consent and require approval by an HREC if the sample is to be used subsequently for research. The HREC will require de-identification in nearly all cases to protect the privacy of the individuals whose genetic material is to be used.

• Require general consent for research use to be obtained at the time the tissue sample is obtained and require approval by an HREC if the sample is to be used subsequently for research. The HREC will require de-identification in nearly all cases.

• Require specific consent to be obtained from the individual each time a tissue sample is to be used for a research study, as well as approval of the research by an HREC.^[102]

19.76 The HGSA favoured the first option ‘as the benefits for research are considerable and the likelihood of harm to individuals is very small’. Obtaining informed consent every time a tissue sample is collected in routine hospital work was seen to be impractical.^[103] The HGSA also noted that consent should later be sought from the patient, where possible.

19.77 In practice, consent to possible future research may be difficult to obtain in clinical settings. Dr Rosemary Balleine noted:

Pre-operative consent is neither practical in the context of busy clinical practice nor considerate of the patient’s emotional well-being. Approaching patients post-operatively may be considered by some as intrusive, especially as researchers are frequently not the clinicians responsible for care of the patient. A reasonable approach may [be] to ask the attending clinician to obtain consent from the patient post-operatively, however clinicians may be disinclined to undertake this complicated and time-consuming process in support of research that they are not directly involved with.^[104]

19.78 Chapter 15 and Chapter 18 discussed procedures that are being developed within the medical research community for obtaining prospective consent for unspecified future research,^[105] and recommended that the NHMRC provide new guidance to researchers about obtaining such consent.

19.79 Similar approaches might be taken at the time an individual is admitted to hospital, consents to a screening test for their child, or provides a pathology sample. For example, the Western Australia Research Tissue Network is developing a system where, upon admission to hospital, patients are asked to complete a one-page form in triplicate on which they indicate their consent or refusal to consent to research use of tissue samples taken in the course of treatment. One portion of this form is attached to the patient’s medical record and can be linked to any samples taken so that future researchers will be able ascertain whether consent to research was given.^[106]

Disclosure for law enforcement purposes

When parents of newborns consent to the blood test, the furthest thing from their mind is any measured judgement of the potential use by the state, through the police or otherwise, of their child’s DNA.^[107]

19.80 Many submissions accepted that there are circumstances in which the police might reasonably require access to stored tissue samples, though most noted that these circumstances should be exceptional.^[108] The Office of the Victorian Privacy Commissioner emphasised that samples should be disclosed only in the most serious cases as a last resort, and should not result in samples being added to a DNA database. The Office also submitted that disclosure of samples should require a court order and informed consent, although in some unusual cases it might be reasonable to waive the consent requirement.^[109] Disclosure for the identification of human remains was regarded as more acceptable than for the identification of suspects.^[110]

19.81 A few submissions suggested that disclosure of stored samples for law enforcement should not be allowed.^[111] For example, the Department of Human Services South Australia stated that it does not disclose newborn screening cards to police as this is ‘viewed as intrusive to privacy, especially considering that there is no informed consent given to such a use for Guthrie cards’. The Department also noted that there is usually another source of genetic material available in most circumstances where cards have been requested for this purpose.^[112]

19.82 Some submissions favoured legislative constraints on the disclosure of samples for law enforcement purposes.^[113] For example, the Office of the Victorian Privacy Commissioner stated:

The issue needs to be addressed transparently and by the appropriate authority, Parliament. … It should be a matter for thorough public debate and considered parliamentary decision before … collections of infant DNA or research volunteers’ tissue are tapped for law enforcement purposes.^[114]

19.83 Privacy NSW stated:

We consider that the disclosure of newborn screening cards for law enforcement should be regulated by law. In addition to protecting the interests of tissue donors, legal regulation is critical to secure public accountability and to promote public confidence in genetic screening programs and the banking of human tissue undertaken by hospitals and other medical institutions.^[115]

19.84 The Office of the Federal Privacy Commissioner (OFPC) suggested that amendments could be made to the Crimes Act 1914 (Cth) (Crimes Act) to provide legislative controls on disclosure.^[116] The OFPC highlighted perceived flaws in the use of MOUs to control disclosure of newborn screening cards in New South Wales and, in particular, the fact that the protocol was developed without public debate or parliamentary process and does not establish any accountability measures.^[117]

19.85 Others suggested that legislation was unnecessary. The New South Wales Health Department and the New South Wales Police considered the MOU to be a sufficient response to existing concerns—although the New South Wales Police did not have objections to formalising the MOU through legislation.^[118]

19.86 Other submissions suggested that legislation regulating, and legitimating, the use of newborn screening cards for law enforcement might discourage parents from allowing their children to be screened. The Office of the Victorian Privacy Commissioner stated:

Individuals may be less inclined to seek a genetic test or to provide a tissue sample if the genetic register or tissue bank becomes a pool of data into which police may routinely dip.^[119]

19.87 Concern about disclosure of stored samples to police are related to broader concerns about police collecting samples outside the formal regulatory framework established under Part 1D of the Crimes Act (see Chapter 41). Seeking disclosure of stored samples, which is not specifically covered by these legislative provisions, could be a means of circumventing forensic procedures legislation. The NSW Legal Aid Commission observed:

Apart from the general concern about the retention of this vast database of identified genetic material, and its use for purposes for which no consent has been given, it is a particular concern that law enforcement agencies could obtain access to this information, thereby bypassing the safeguards on collection of forensic information included in the forensic procedures legislation in the various jurisdictions.^[120]

19.88 In Chapter 41, the Inquiry recommends that the Crimes Act be amended to provide that, with the exception of crime scene samples, law enforcement officers may lawfully collect a genetic sample for law enforcement purposes only from the individual concerned under Part 1D of the Crimes Act, or with consent or a court order (see Recommendation 41–13).

Need for consistent policies and practices

19.89 In DP 66 the Inquiry proposed the development of nationally consistent policies and practices in relation to the collection, storage, use of and access to stored tissue samples.^[121] This proposal was well received and many submissions expressed support.^[122] The Commonwealth Department of Health and Ageing stated that:

Lack of clarity about sample retention periods and permissible secondary uses, such as for research and law enforcement, may undermine newborn genetic screening programs. For this reason, the Department supports the development and implementation of nationally consistent legislation and/or policies and practices governing the disclosure of genetic information and samples held on Guthrie cards.^[123]

19.90 Many submissions highlighted the need for community consultation on the issues surrounding the use of genetic samples and information held in human tissue collections, and for programs to increase public awareness.^[124]

19.91 While the submissions supporting the proposal emphasised the desirability of a national response to the issues raised by human tissue collections,^[125] there were also suggestions that this might slow the development, in particular jurisdictions, of improved policies and practices.^[126]