Secondary uses of human tissue collections

19.21 Human tissue collections have a variety of potential secondary uses, including use in medical research, law enforcement and parentage testing.^[13] Submissions expressed concerns about possible secondary uses of human tissue collections,^[14] including those that may occur without the knowledge of the person from whom the samples were taken.^[15] Submissions also raised concerns about the storage of genetic samples taken from children who cannot consent on their own behalf.^[16]

19.22 Individuals may not be aware that their genetic samples or information have been retained and could be used again for other purposes. The Neurofibromatosis Association of Australia submitted the results of a survey of its members, which showed that few people were aware that their tissue could have been stored after it was removed for diagnosis or treatment; nor were they aware of the uses to which it might be put.^[17] Women’s Health Victoria submitted that:

The thought that parts of our human tissue may be stored in a bank or laboratory, for some other research, without our knowledge, is abhorrent to some and feels like a violation.^[18]

19.23 Secondary uses of genetic samples and information collected for other purposes raise privacy and consent issues. However, some secondary uses are closely related to the primary purpose of collection and could reasonably be expected. For example, the re-testing of pathology samples for quality assurance purposes is a closely related secondary purpose.

Research value

In the post genome sequencing era, the ability to easily and extensively access the staggering amount of medical and biological information locked up within tissue archives is paramount—molecular pathology could play a pivotal role in unlocking the bases of multiple disease types, including infectious diseases, cancer and developmental disorders.^[19]

19.24 As is the case with human genetic research databases (see Chapter 18), human tissue collections have great value as research tools. Samples are generally collected in a clinical setting and so will often have identifying information attached to them, which enables them to be linked to medical records.

19.25 This is one reason that newborn screening cards and archived pathology samples are very useful research tools. Newborn screening cards have been used, for example, to look for genetic mutations that may cause Sudden Infant Death Syndrome (SIDS). Researchers have been able to test genetic samples taken from the cards of children known to have died of SIDS. Such targeted research would have been impossible if the cards were not identified.^[20] Other uses, such as in epidemiological studies to determine the prevalence of a genetic mutation in the population, can be conducted on de-identified samples.

19.26 Human tissue collections, particularly newborn screening cards, have significant potential value for population studies, including those that may help government and health system administrators to plan for the future health needs of the Australian population.^[21] The collections can be used to study the interaction of genetic and environmental factors in disease over time, to examine the causes of genetic diseases, and to locate genetic mutations. Through such research, new diagnostic tools and treatments can be developed, which will have economic as well as medical value.

19.27 Other human tissue collections can be used to confirm diagnoses to facilitate research on familial disorders:

[T]here are circumstances where it is essential to review, for clinical and research purposes, the pathology on samples collected for diagnosis. For example, in many large molecular-epidemiology studies, confirmation of diagnosis is critical for substantiating apparent familial histories of specific cancers.^[22]

19.28 Tissue collections created over long periods of time have unique value for researchers. Access to historical collections can enable research that otherwise would have been logistically very difficult and time-consuming, if not impossible, given the problems of establishing such databases from scratch. Many studies require access to large sample sets. In some cases collections created for research are not sufficiently large but they can be supplemented with archived material.

19.29 This may apply, for example, to some research uses of material held in human tissue collections, where the dividing line between clinical care and research may be unclear.^[23] In its submission, the Australian Academy of Science observed that research into the causes of disease is an intrinsic part of diagnosis by pathologists and that the clinical and research activities of pathologists cannot be regarded in isolation: in trying to diagnose a condition, the pathologist is also searching for the most effective cure.^[24] A crossover between pathological diagnosis and ongoing research is regarded as good clinical practice, particularly as tests on historical samples can help find treatments for family members.^[25]

19.30 The Australian Academy of Science also emphasised the need to recognise the research uses of archived pathology material and submitted that research utilising these materials should be encouraged in the interests of the community. The Academy argued that restricting access to samples would be a major impediment to research.^[26]

19.31 The Peter MacCallum Cancer Institute stated that it is ‘hard to overstate the importance of controlled access to archival material’,^[27] a perspective emphasised by other submissions.^[28]

Although the movement to prospectively collected consented material will ultimately result in an increase in the number of samples available for research, this will take time. … the increasing sophistication of (molecular) sub-typing of cancer requires large sample sets to achieve statistical power. Hence, there will continue to be a need to supplement tissue bank sets with archival material for the foreseeable future.^[29]

19.32 The research value of human tissue collections may depend on how the tissue has been stored. It has been said that proper long-term storage of newborn screening cards for research purposes would be complex and expensive.^[30]

Forensic use of human tissue collections

19.33 Genetic samples stored in human tissue collections may be sought for forensic and law enforcement purposes.^[31] Newborn screening cards in particular may provide a useful resource in some criminal investigations. The cards contain sufficient DNA to enable matching with other samples collected in an investigation, and they have reasonably reliable identifying information attached to them. Newborn screening cards may be of use in identifying human remains and in providing samples for DNA profiling to obtain matches to suspects where no other samples (apart from those collected from a crime scene) can be obtained.

19.34 Newborn screening cards are not regularly used for law enforcement purposes. However, police do sometimes seek disclosure of newborn screening cards and hospitals do sometimes comply with requests for disclosure. For example, in New South Wales more than a dozen requests for cards have been made since 1996, mainly for use in murder inquiries and to identify bodies. Parental consent was given in almost all cases, and cards were released in all but a few cases.^[32] Where consent is not given, disclosure may be obtained by police under a court order, most often a search warrant issued by a magistrate.

19.35 Public concerns about police access to samples came to prominence when the Western Australian police took possession of some newborn screening cards held by the Princess Margaret Hospital in Perth. Although the police had a warrant to take possession of the cards, some parents were nevertheless disturbed by this action and sought the return of their children’s cards. These events are said to have led to a decrease in participation in the screening program.^[33]

19.36 In the course of the Inquiry, the issue of law enforcement use of samples held in human tissue collections has been raised mainly in relation to newborn screening cards. Identified pathology samples and other stored tissue might also be used for law enforcement purposes. However, the increased use of police powers to compel the provision of DNA samples under forensic procedures legislation may decrease the need for police to access newborn screening cards or other stored samples, at least where samples may be obtained from living persons.^[34]

Parentage and other kinship testing

19.37 In some instances, individuals may seek access to stored genetic samples for parentage and other kinship testing,^[35] sometimes in the context of court proceedings.^[36] Some newborn screening programs in Australia have been approached for samples for parentage testing. In Western Australia a newborn screening card was released for parentage testing, with the consent of both parents.^[37]