The need for reform

Privacy

18.53 Genetic databases raise privacy concerns because they store large quantities of genetic samples and information that may be accessed by many different researchers, over many years, and for many different research purposes. These concerns include questions about consent to storage, use and re-use of genetic samples and information, linking of information to genetic samples, and the extent of disclosure of samples and information. The volume of information that might come to be held in human genetic research databases magnifies these concerns.

18.54 Linkages within databases create privacy concerns, as the combination of samples and information can yield new information in itself. Collections may build up a more comprehensive picture of an individual’s health than is held in any other form, such as by linking detailed genealogical information with the health records of a number of family members and data derived from testing genetic samples.

18.55 Storage of genetic samples or information in human genetic research databases may also increase the chances that such samples or information can be re-identified. While genetic samples, medical records, and lifestyle information may all have been coded or de-identified,^[53] bioinformatic technologies may link samples and information in a way that reveals the identity of the individual to whom they relate.^[54]

18.56 Protecting privacy must be balanced against the promotion of research. Maintaining public confidence in genetic research is crucial because much of the tissue used in research in Australia is obtained through altruistic donation. Such altruism might be adversely affected if community trust in the operation of human genetic research databases is eroded. The Office of the Federal Privacy Commissioner (OFPC) observed:

It is vital to acknowledge the importance of maintaining public confidence in the operation of human genetic databases and the altruistic donation of samples and information to those databases.^[55]

Consent for unspecified future research

18.57 An issue of particular relevance to the operation of human genetic research databases is the extent to which researchers are effectively able to obtain consent for unspecified future research. This issue was also examined in Chapter 15, where the Inquiry recommended that the National Statement should establish new guidelines dealing specifically with obtaining consent to unspecified future research (Recommendation 15–4).

18.58 Some human genetic research databases in Australia already operate by obtaining consent to unspecified future research and there was support for facilitating this process. Major human genetic research databases may not be able to operate effectively without the ability to seek broad and durable consent to the use of genetic samples and information in research, given the cost and time involved in obtaining specific consent from large numbers of donors.

18.59 Where samples and information are already stored in a human genetic research database, and neither consent to unspecified future research nor specific consent to proposed research has been obtained, the issue of retrospective consent will also arise. This issue will be especially pertinent for databases that have been developed from existing collections, from samples and information left over from clinical use, and from the conversion of clinical databases to research use.

18.60 Obtaining subsequent consent from donors for future research is a costly and time-consuming process for research organisations. The primary reason for favouring broad initial consent is that further consent is not necessary when researchers wish to apply new research techniques^[56] or conduct new research that could not have been foreseen at the time of the donation.

Research techniques are developing at such a rapid rate that it was not possible 5 years ago to describe with any detail projects that are being pursued today. The same is true of the relationship between techniques available today and research five years from now.^[57]

18.61 In the context of cancer research there are other important considerations. For example, some cancers, such as ovarian and gastric cancer, have high rates of mortality.^[58] To obtain consent retrospectively for individual research projects would be difficult in cases of aggressive and fatal disease. To ‘re-consent’ patients for new studies may be impossible, due to death, or disturbing to surviving patients.^[59] The PMCI submitted that the timely conduct of research into the causes of cancer would be significantly prejudiced if, instead of being able to use existing collections of human tissue for new cancer research, fresh collection of tissue were to be required.^[60]

18.62 Many Australian human genetic research databases utilise procedures that involve obtaining broad consent for the use of tissue in research, generally from donors whose tissue is being surgically excised for diagnostic and therapeutic purposes. In effect, this consent purports to cover unspecified future research.

18.63 For example, the PMCI uses broad consent, rather than specific protocol-based consent, to facilitate the future research use of tissue, as approved by its ethics committee.^[61] A similar approach is used by the Western Australia Research Tissue Network.^[62] The consent form for donors to the PMCI tissue bank states that the sample will be used for ‘biochemical and genetic studies on the cause of cancer’.^[63] Donors are informed that researchers associated with the PMCI will have access to the samples for approved research purposes only and that access to donated tissue will be regulated by the PMCI ethics committee.^[64] The consent form for the Western Australia Research Tissue Network simply refers to donation of tissue or blood for medical research and states that storage of and access to tissue will be managed by an Advisory Committee and only released where approved by an HREC.^[65]

18.64 Specimens collected from oncology patients at the Children’s Hospital at Westmead are stored within the Children’s Hospital at Westmead Tumour Bank and research on the specimens is regulated by the Tumour Bank Committee under the auspices of the hospital HREC.^[66] The hospital seeks consent for unspecified future research by adding to its admission form the following clause:

I understand and agree that blood, urine, and other samples may be taken for the diagnosis and treatment of myself/my child. Any unused part of the samples may be retained for future research.^[67]

18.65 A two-stage consent process is used. Initial consent is obtained, as described above. At a later stage, consent to store samples in the Tumour Bank for use in future research is obtained, at a time when prospective research participants are in a better position to give informed consent. The rationale for this process was explained as follows:

It is our belief that to approach parents of newly diagnosed childhood cancer patients immediately upon admission is insensitive to the emotional state of the family and hence, is unethical by nature. … However, so as to ensure that the consent given by patients for the diagnostic samples to be stored in the Tumour Bank and used for subsequent research is thoroughly informed we obtain retrospective consent and approach the parents at a later stage with specific information about the Tumour Bank as well as a further consent form for the collection of control tissue. The option to have the specimens withdrawn from the Bank is offered at this point.^[68]

18.66 A number of research institutions keep research participants informed about ongoing research activities. The value of this process was highlighted in consultations with research organisations.^[69] Clearly, it is desirable for research participants who have consented to unspecified future research to be kept informed about the nature of the research that is eventually conducted, should they wish to know more about it. The Children’s Hospital at Westmead Tumour Bank referred in its submission to a system of ‘continual information flow’ to the parents, guardians and patients within the hospital.

We believe that people who donate tissue for research expect that research be done on the specimens, even if it is unspecified at the time of consenting. Hence, the Newsletter is the means by which we continually inform the oncology parents what research is taking place as well as reminding them of the agreement conditions under which we use the tumour tissue.^[70]

Is existing regulation adequate?

18.67 The existing regulation of human genetic research databases is limited. Although the operation of human genetic research databases is covered to some extent by information and health privacy legislation, the Human Tissue Acts and ethical guidelines, there are significant gaps.^[71] Overwhelmingly, submissions agreed that the current regulation of human genetic research databases is inadequate and requires reform.^[72]

18.68 A major gap is the absence of rules governing the collection, storage, use, transfer or disclosure of genetic samples and information. For example, the Privacy Act and most other state and territory information and health privacy legislation do not cover genetic samples. Information that has been de-identified in such a way as to fall outside the definition of ‘personal information’ is also excluded.^[73]

18.69 In any case, the distinct ethical and privacy issues raised by the large-scale and long-term storage and use of linked genetic samples and information may not be addressed adequately simply through the application of information and health privacy legislation. The operation of research databases may require specific regulation.

18.70 The existing ethical principles and guidance set out in the National Statement do not deal with some of the distinct privacy and ethical issues raised by human genetic research databases. There are, for example, no specific provisions to ensure that major collections of genetic samples and information are subject to appropriate governance and accountability. The National Statement provides insufficient guidance on mechanisms for obtaining consent to unspecified future research, particularly in the context of standing research databases.