Regulation of human tissue collections

19.38 The collection, storage, use and disclosure of genetic samples and information held in human tissue collections are regulated by a mixture of legislation, guidelines and standards. These include:

• the legislative framework for the protection of information and health privacy based on the Privacy Act 1988 (Cth) (Privacy Act)and similar state and territory legislation (see Chapters 7 and 8);

• state and territory Human Tissue Acts, which require consent for the donation of human tissues for research;^[38]

• standards and guidelines released by the National Pathology Accreditation Advisory Council (NPAAC), which apply to pathology laboratories accredited in Australia;

• relevant ethical guidelines and policy statements; and

• government health authority policies on the storage, use and disclosure of newborn screening cards.

19.39 The regulation of tissue collections also takes place against the background principles of ownership of samples, which provide that laboratories have a right to possession of preserved samples (see Chapter 20). Newborn screening cards may be regarded as a medical record. It is therefore possible that, according to common law and equitable principles, newborn screening cards are owned by the health authorities that create them.^[39]

Information and health privacy legislation

19.40 Chapter 7 summarised the legislative framework for the protection of information and health privacy based on the Privacy Act and similar state and territory legislation.^[40] Chapter 8 discussed the application of this legislation to genetic samples.

19.41 Personal information held by private sector organisations, such as private sector pathology laboratories, is governed by the Privacy Act. Where it is held by public hospitals, pathology-related personal information will be subject to state and territory information and health privacy legislation. Newborn screening cards are held by state public hospitals^[41] and screening is done in public laboratories. The cards are therefore subject to state and territory information and health privacy legislation, where it exists.^[42]

19.42 As discussed in Chapter 8, newborn screening cards are clearly covered by the Privacy Act or similar state and territory information and health privacy legislation because they are ‘personal information’—the cards contain identifying information, such as date of birth, as well as the blood sample, and the card is a ‘record’ for the purposes of the Act.^[43] However, the exclusion of samples from the coverage of most privacy legislation poses a problem because individual privacy rights in respect of samples, including those held in human tissue collections, may not be asserted by the individuals from whom the samples were taken. This issue is discussed in Chapter 8.

Human Tissue Acts

19.43 Human genetic samples collected for diagnostic or therapeutic purposes are expressly excluded from the ambit of the Human Tissue Acts.^[44] Samples collected for pathology purposes and newborn screening cards are thus not covered by the Acts. Tissues, body parts and organs donated to tissue banks are covered by the Acts under provisions outlined in Chapter 18. Under these provisions consent to donate tissue for one purpose, for example transplantation, probably does not constitute consent to other uses, such as research.

National Pathology Accreditation Advisory Council guidelines

19.44 NPAAC produces guidelines and standards for the accreditation of pathology laboratories and services. The quality assurance and accreditation standards that regulate genetic testing laboratories are discussed in Chapter 11.

19.45 The minimum standards for pathology laboratory practice in Australia are set out in NPAAC’s Standards for Pathology Laboratories.^[45] These standards state that confidentiality of patient information must be a primary consideration in the operation of a pathology service and that pathology laboratories should have policies and procedures to maintain ethical standards of laboratory practice and to ensure human tissue samples are treated with due respect.^[46]

19.46 In addition, the NPAAC Guidelines for the Retention of Laboratory and Diagnostic Material^[47]prescribe minimum time periods for retaining different types of diagnostic material. For example, in anatomical pathology, different retention periods are prescribed for frozen section tissue (20 years); frozen tissue blocks for immunofluorescence studies (three months); unblocked tissue removed at surgery (one month) and unblocked tissue retained at autopsy (generally up to three months after autopsy).^[48] Importantly, newborn screening cards are to be retained until the child reaches the age of 25 years.^[49]

Other relevant guidelines and policy statements

19.47 A range of ethical and other guidelines has been issued by bodies, including the National Health and Medical Research Council (NHMRC), the Human Genetics Society of Australasia (HGSA) and specialist medical colleges. These are relevant to the collection, storage, use and disclosure of, and access to, genetic samples and information held in human tissue collections, including newborn screening cards.

19.48 The NHMRC National Statement on Ethical Conduct in Research Involving Humans (the National Statement)^[50] generally requires consent to the collection and use in research of human tissue, including samples that have been collected and stored after clinical procedures. As discussed in Chapter 15, these consent requirements can be waived by a Human Research Ethics Committee (HREC).

19.49 The HGSA’s Guidelines for Human DNA Banking cover DNA stored to meet the future service needs of families affected by inherited genetic disorders, including for confirmation of diagnosis at the molecular level, presymptomatic diagnosis, carrier detection and prenatal diagnosis by family linkage analysis.^[51] The guidelines list matters to be discussed with individuals prior to obtaining consent to store their DNA, which include the uses to which the DNA will be put, the minimum period for which the DNA will be stored, and the conditions under which the DNA can be used for research.^[52]

19.50 In relation to newborn screening, the HGSA and the Royal Australasian College of Physicians have released the Policy Statement on the Retention, Storage and Use of Sample Cards from Newborn Screening Programs.^[53]The Policy Statement provides that cards should be stored in a manner appropriate to their intended future uses and notes that the primary purpose of retaining cards is to enable confirmation of test results.^[54] The policy statement recommends particular consent or approval requirements for the use or disclosure of newborn screening cards for various purposes:

• Screening program development:No consent is required where cards have been anonymised; however, ethics committee approval is necessary if cards are to be used outside the screening laboratory or where the samples remain.

• New health information about the person from whom the sample was obtained is generated: The approval must specify who should be informed of abnormal test results, what they will be told and the nature of any follow-up that may be necessary.^[55]

• Individual requests: Test information should not be released to anyone other than the person whose blood is on the card, or parents where that person is a minor. Release should be discouraged if the person is still living and could give another sample. If a card is returned, the family should be encouraged to retain it or, if they will not, then destruction of the card at an agreed time is to be sought.^[56]

• Requests from health professionals: A card may be released to determine cause of death or to gain genetic information for family reasons, but only where parental consent has been given.^[57]

• Research studies: Cards may be used in research studies where approval has been obtained from both an ethics committee and the screening program advisory committee (if one exists). Research should be conducted in accordance with NHMRC guidelines and follow any other requirements placed on it by the screening program committee.^[58]

• Coronial and forensic inquiries: Cards may be released with parental or next-of-kin permission or in accordance with a legal requirement.

19.51 The Royal College of Pathologists of Australasia (RCPA) has released a policy statement on the secondary use of human tissue samples collected for diagnostic purposes.^[59] The RCPA policy statement includes guidance on the re-use of samples for education, research, commercial, medico-legal, insurance, employment and legal determinations.^[60] For educational and quality review purposes, consent is generally considered to be an implied part of patient care while the individual is still a patient at the institution where the review is taking place.^[61] Research use of pathology samples requires consent unless HREC approval for a waiver of consent has been obtained in accordance with the National Statement. Otherwise samples should be used only for the purpose for which consent was obtained.^[62]

19.52 The RCPA policy statement provides that samples should not be released for insurance, employment or medico-legal purposes unless a subpoena or warrant has been obtained or where the individual has consented to the sample’s use in this manner. Once the use has been completed, samples should be returned to the laboratory where they were held.^[63] This would cover police access to samples. Generally an individual’s request for the return of his or her own material will be refused.^[64]

Health authority policies on newborn screening cards

19.53 Health authorities have developed their own policies in relation to newborn screening cards, which differ from each other in significant respects. For example, the Western Australian Newborn Screening Program has different policies to those adopted in most other Australian programs, most notably the requirement that cards be destroyed after two years.^[65] In other States and Territories cards are generally stored for much longer periods.

19.54 In Western Australia cards may be released for research after the removal of identifiers, although demographic information may be provided if necessary. The program’s policy provides that only one blood spot from each card will be released and the research project should aim to make some contribution to public or family health, or to the goals of public health screening.^[66] Requests from individuals and medical practitioners are considered by a Review Panel.^[67] Cards are not to be disclosed for law enforcement purposes unless the consent of next-of-kin or a subpoena has been obtained, and even then release will be restricted unless the requesting party can demonstrate that no alternative sample can be found. The Review Panel also considers requests for disclosure for law enforcement purposes.^[68] South Australia has similar policies; however, the Executive Director of Medicine of the hospital holding the cards deals with requests for the disclosure of cards for law enforcement purposes.^[69]

19.55 In Victoria, Genetic Health Services Victoria deals with the release of cards on a case-by-case basis. Cards are sometimes released for research and, rarely, to police. Genetic Health Services Victoria has signed a Memorandum of Understanding (MOU) with the Victorian Police to provide a framework for police access to newborn screening cards. Under the MOU, the parties agree that access to cards should be sought through a court order^[70] and that the information contained on the card is confidential.^[71]

19.56 In New South Wales, the Children’s Hospital at Westmead releases cards only with written parental consent and authorisation from the Director of the Screening Program.^[72] Cards may be released to the police under the terms of an MOU between the New South Wales Health Department and the New South Wales Police. The New South Wales MOU differs from the Victorian agreement in setting out a protocol for the release of cards where there is no court order. The MOU provides that the Department will disclose cards for the purpose of identifying human remains or where the Police possess a forensic sample suspected to come from a victim of a crime, taken from the scene of the crime, where the victim cannot be located. New South Wales Police must make reasonable efforts to secure the consent in writing of the next-of-kin of the person whose sample is requested, unless it would be impractical to do so or would compromise an ongoing investigation. The protocol is not intended to affect disclosure as required by law, such as by a search warrant.^[73]

19.57 In New South Wales, cards may also be released for certain forms of research, including special studies for families where the child is deceased; other special studies for families; forensic studies as directed by the Director-General of Health or the Department Head of the Newborn Screening laboratory; and (when de-identified) for epidemiological studies approved by the hospital HREC.^[74]