National Statement on Ethical
Conduct in Research Involving Humans
Part 16 - Human Genetic Research
Social significance and consequences of genetic research
Privacy and confidentiality
Consent
Where the requirement for consent could be waived
Genetic counselling
Genetic research enhances our understanding of how genes and environmental factors interact to influence the health of individuals and populations and in doing so, generates knowledge with the potential to improve individual and community health.
Genetic research can reveal information about an individual's susceptibility to disease and hence about the individual's future health. Such information may be of interest and benefit to research participants, especially if preventive strategies exist.
In addition to ethical considerations which apply to all research involving humans there are ethical issues unique to genetic research. These arise from the nature of genes and genetic information which, though personal, are also shared with other family members and with unrelated individuals in the population.
Participation of families rather than individuals is required for many genetic research studies. Research results and genetic material and information collected for research may be of significance to the health of blood relatives, including some who have not participated in the research. These family members may have an interest in their relative's genetic material or in information which the research generates, because testing that material or acquiring that information may create new options for life decisions, including those with potential to improve health. However, some family members may prefer not to be given information which may provide knowledge of future health or health risks. In addition, other family members who are not blood relatives, such as partners and spouses, may have an interest because of concerns about the health of offspring.
There is potential for harm to participants arising from the use of genetic information, including stigmatisation or unfair discrimination, and researchers should recognise that special care must be taken to protect the privacy and confidentiality of this information. The results of genetic tests, particularly those which provide information about future health, could potentially be used by third parties such as insurance companies and employers to assist with decisions concerning research participants and their families. By participating in genetic research people should not be put at risk of being deprived of benefits that are available to other members of the community.
Social significance and consequences of genetic research
16.1 Researchers should consider the social and cultural significance of their research, particularly in the areas of complex socially significant characteristics and the genetic characteristics of collectivities. When such characteristics are the subject of research, Human Research Ethics Committees (HRECs) should satisfy themselves that no contestable or dubious ethical values are assumed by the research protocol.
16.2 When assessing proposals of this type, HRECs should consider the balance between the contribution to knowledge and the potential for harm to individuals or collectivities.
16.3 Researchers must ensure the confidentiality and privacy of stored genetic information or research results relating to identified or potentially identifiable participants.
16.4 Researchers must keep information provided by participants about family members confidential. Such confidential information must not be revealed either to family members or persons who are not family members.
16.5 The research protocol must specify whether genetic information or genetic material, and any information derived from studying the genetic material, will be stored in identified, potentially identifiable (coded) or de-identified (not identifiable, anonymous) form. (See the introduction to 14. Epidemiological Research). Researchers should be aware that the rarity of some genetic disorders might allow certain families to be identified by other researchers, and in some cases by members of the community, even if information is communicated to others in de-identified form.
16.6 Researchers should consider carefully the consequences of storing information and material in de-identified form for the proposed research, for future research and for communication of research results to participants.
16.7 Identifying genetic information must not be released to others, including family members, without the written consent of the individual to whom the information relates, or a person or institution which may legally provide consent for that person.
16.8 A researcher must not transfer genetic material and related information to another research group unless:
- the researcher and the other research group are collaborating on research which has been approved by an HREC; and
- the genetic material and information is provided in a form which ensures that participants cannot be identified. However, an HREC may approve transfer of genetic material and information which is identified, or potentially identifiable, in certain circumstances (eg. see paragraph 14.8). If this occurs, the other research group must undertake to hold the material and related information in such a manner that there is no reduction in the protection of the privacy of the participants or of the confidentiality of the information.
16.9 Consent from participants (and/or other appropriate person or organisation as specified in guidelines part 4, part 5, part 6, part 7 and part 8 of this Statement) must be obtained for human genetic research unless an HREC waives the requirement for consent (paragraph 16.13).
16.10 When consent is being sought from individuals for prospective collection of genetic material and information they should be informed:
(a) that they are free to refuse consent without giving reasons. Researchers should be aware that for some genetic research, an individual's participation may be requested by, and may primarily serve the interests of, other family members and the individual may agree to participate out of a sense of obligation;
(b) about arrangements to ensure the privacy and confidentiality of their genetic information both with regard to other family members and persons who are not family members. Participants should be informed whether their genetic material and information will be used in an identified, potentially identifiable, or de-identified form and, if their material or information is to be de-identified, that it will not be possible to provide them with personal research results;
(c) if the research may reveal information of potential importance to the future health of an identified or potentially identifiable participant or the participant's offspring;
(d) that the researchers will endeavour to provide information about the outcome of the research. Participants should be advised when it is not intended to provide feedback. If relevant, participants should be asked whether they wish to be notified of research results which relate to them as individuals. A decision not to be notified should be respected;
(e) that if the research generates information about participants which may be of relevance to the health of other family members, the consent of participants will be sought before offering to disclose such information to the family members concerned;
(f) if information about family members, in addition to that provided by participants, is required for the research;
(g) if it is proposed to approach relatives, consent to do so will first be obtained from the participant. In coming to a decision to recruit relatives, researchers must consider the privacy and any known sensitivities of the relatives, accepted habits of communication within the family, and the balance of potential benefits and harms which might result from participation in the research;
(h) if the research has the potential to detect non-paternity or non-maternity;
(i) that genetic material and information may have uses unrelated to HREC approved research. Participants should be advised that their material and information will not be released for other uses without consent, unless required by law;
(j) about any intention to store their genetic material and information because it could potentially be useful for as yet unspecified future research conducted in accordance with paragraphs 16.12 and 16.16 below. If consent is given, the duration of storage should be specified. If consent for future research use is refused, the genetic material and information should be disposed of at the end of the research, once the sample storage and record keeping requirements of good research practice have been met;
(k) if their genetic material is to be disposed of on completion of the research or after a further period of storage. Some participants or collectivities will have sensitivities regarding disposal of their genetic material. These should be established and recorded at the start of the research and account taken of them at the time of disposal; and
(l) that they are free to withdraw from the research at any time. This may involve a request that that their genetic material and information be disposed of, provided the samples can be identified. Alternatively samples and information may be retained provided they are de-identified, depending on the wishes of the participants.
16.11 When researchers propose to collect genetic material and information from individuals chosen by virtue of their membership of a particular collectivity, consent should be sought from appropriate collectivity representatives as well as from the individuals concerned, in accordance with 8. Research Involving Collectivities.
Where the requirement for consent could be waived
16.12 As a general principle, where a researcher proposes to conduct research using stored genetic material or genetic information, the consent of the person from whom the material was derived, or to whom the information relates, is required.
16.13 An HREC may sometimes waive, with or without conditions, the requirement for consent. In determining whether consent may be waived or waived subject to conditions, an HREC may take into account:
- the nature of any existing consent relating to the collection and storage of the genetic material and genetic information;
- the justification presented for seeking waiver of consent including the extent to which it is impossible or difficult or intrusive to obtain specific consent;
- the proposed arrangements to protect privacy, including the extent to which it is possible to de-identify the genetic material and genetic information;
- the extent to which the proposed research poses a risk to the privacy and well being of the individual;
- whether the research proposal is an extension of, or closely related to, a previously approved research project;
- the possibility of commercial exploitation of derivatives of the sample; and
- relevant statutory provisions.
16.14 Institutions or organisations wishing to conduct research on genetic material and information collected for non-research purposes, should develop and disseminate a general policy which informs patients that such material and information may be used for future research following HREC approval, subject to the issues raised in paragraphs 16.12 and 16.13. Patients of such institutions or organisations should be informed that this policy exists, and that their privacy and confidentiality will be protected. They should be given the opportunity to refuse consent to use of their material and information for such research.
16.15 When research may reveal information of potential importance to the future health of an identified or potentially identifiable participant's future health or the participant's offspring, the research protocol must provide for consent procedures, counselling, support, test quality and test result confidentiality as would apply if the participant sought such information in a clinical setting. Otherwise such research may only be performed if the genetic material has been de-identified. Counselling and provision of information arising from the research must be provided by health professionals with appropriate training, skills and experience.
16.16 If asked to consent to the use of their genetic material and information for future research, participants should be provided with information and counselling about the possible consequences of doing so. In general, their genetic material and information will be used for future research in de-identified form and feedback will not be possible. However, the HREC may direct the researchers to use the genetic material and information in potentially identifiable (coded) form. In such instances, the views of participants regarding the feedback of information of potential significance to their own or their relatives' future health should be established, recorded and respected. If feedback is requested, the participant should receive information and counselling about the implications of receiving that information; this can be provided at the time of obtaining consent or, in the future, prior to the provision of the feedback.
[Preamble] [Part 1] [Part 2] [Part 3] [Part 4] [Part 5] [Part 6]
[Part 7] [Part 8] [Part 9] [Part 10] [Part 11] [Part 12] [Part 13]
[Part 14] [Part 15] [Part 16] [Part 17] [Part 18] [Part 19]
[Appendix 1] [Appendix 2] [Appendix 3]