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Please note:
The Human Research Ethics Handbook – Commentary on the National Statement on Ethical Conduct in Research Involving Humans has been revoked. This information is kept here for archival purposes only. For the current guidelines, Human Research Ethics Committees should refer to the National Statement on Ethical Conduct in Human Research 2007.
6. Human Genetic Research
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.
All genetic research is subject to the ethical considerations and constraints common to any other research involving human participants. However, there are some issues specific to genetic research. This is because genetic information is shared among blood relations and so may have implications for persons other than those participating in a research project. The results of genetic research may have implications for the future health of the individuals being studied and their descendants. It may also affect decisions concerning social relationships, reproduction, employment and insurance.
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Social significance and consequences of genetic research
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.
An example of such might be studies of the genetic basis of complex socially significant characteristics such as intelligence, personality, sexuality or the genetic differences between population groups. These studies may have the potential to be applied in an adverse or discriminatory manner, so potentially negative consequences need to be carefully considered in relation to potential benefits.
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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.
This paragraph is regarded as sufficiently clear, and so no commentary has been added.
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Privacy and confidentiality
Researchers must ensure the confidentiality and privacy of stored genetic information or research results relating to identified or potentially identifiable participants
Reference should be made to the Guidelines for Genetic Registers and Associated Genetic Material, (NHMRC 1999).
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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.
HRECs need to pay particular attention to the ways in which information is obtained and data stored. Researchers will often be provided with medical information about relatives of research participants that is of questionable accuracy or incomplete and, in relation to which, at the time the information is provided, the relatives will not have given consent.
Researchers need to ensure that information obtained under these circumstances is treated with great care and must take precautions to prevent its inappropriate dissemination.
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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.
The decision made about the labelling of specimens, and its implications, should be presented to prospective participants when their consent is being sought.
HRECs should be aware that certain genetic material, such as that stored as a legal requirement or for potential clinical use in addition to research use, cannot be de-identified and must retain its identifiers. It may be possible to use part of the stored sample in coded or de-identified form for research, while retaining part in identified form for the primary purpose for which it has been stored.
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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.
This paragraph is regarded as sufficiently clear, and so no commentary has been added.
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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.
The family context in which genetic information is usually derived may suggest that another family member has a right to some information. However, where disclosing that information will identify another member, their consent should be sought.
Recognition of the principle is an important element in informing people before they decide whether or not to undertake a genetic test. Further discussion can be found in NS 16.10(e) and (g) and commentary and in Ethical Aspects of Human Genetic Testing: an Information Paper (NHMRC 2000).
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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.
This paragraph is regarded as sufficiently clear, and so no commentary has been added.
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Consent
Consent from participants (and/or other appropriate person or organisation as specified in guidelines 4, 5, 6, 7 and 8 of this Statement) must be obtained for human genetic research unless an HREC waives the requirement for consent (paragraph 16.13).
This paragraph is regarded as sufficiently clear, and so no commentary has been added.
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When consent is being sought from individuals for prospective collection of genetic material and information they should be informed:
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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;
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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;
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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;
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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;
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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;
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if information about family members, in addition to that provided by participants, is required for the research;
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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;
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if the research has the potential to detect non-paternity or non-maternity;
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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;
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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;
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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
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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.
16.10(a)
HRECs should recognise that some family members may feel that they should participate in a research project out of a sense of obligation to the rest of the family. Particular attention should be paid to this possibility if the research is burdensome or carries risks, such as the possibility of revealing information that might be predictive of future illness.
16.10(b)
This paragraph is regarded as sufficiently clear, and so no commentary has been added.
16.10(c)
Individual participants should be asked if they wish to be given information relevant to their health where research carried out using identified or coded genetic information and material could provide it. In addition, information relevant to their future health, or about any risk to the health of their children or descendants, should be provided in conjunction with counselling from genetic counsellors or health professionals.
When designing their research protocols, researchers should consider whether the research has the potential to reveal predictive genetic information about individuals or carrier status that will affect a participant's chance of having affected children. Participants should be informed when these situations could arise, as they may be a significant factor in the decision whether or not to participate.
Genetic research involving children carries special ethical obligations for HRECs. In addition to paragraphs 4.1 to 4.4, HRECs should consult Ethical Aspects of Human Genetic Testing: an Information Paper (NHMRC 2000)
16.10(d)
It is essential that potential participants are aware at the time of giving consent and donating their genetic information and material that no feedback will be possible, and that consent is given on that basis.
16.10(e)
Where consent is given, the participant's advice should be sought about the most appropriate method of communication with the family members. Researchers may not have the skills needed to discuss clinically relevant information with research participants or their families. Consideration should be given to forming a liaison with a clinical group that includes suitably trained counsellors who can undertake this task. The possibility that family members may not wish to know such information should be considered.
On occasions, a research participant may refuse permission to disclose his or her genetic information to family members. If this occurs in a situation where there may be a threat to the health of those family members, the researcher should consider whether the threat is serious enough to warrant disclosure without the participant's consent. In these situations, researchers should seek the advice of an HREC before proceeding.
As a possible solution to this problem, an HREC may decide it best to exclude participants who indicate that they would withhold crucial information from family members.
16.10(f)
Genetic research often involves gathering information about a participant's family members as well as the participant. The participant may have identified a family member to the researchers, expressed the view that the family member has or does not have a particular disorder, and may have provided some clinical information about the family member.
16.10(g)
The recruitment of family members identified by a participant should only be undertaken if the participant agrees, and the method of approach to the relatives should be discussed with him or her. If willing, the participant should approach the relevant family members to seek permission for the researchers to contact them. If the family members agree, the researchers can then make contact in order to explain the research proposal and seek consent.
16.10(h)
Non-paternity or non-maternity should only be revealed by, or with the assistance of, an experienced health professional. It may also be helpful to enlist the support of the participant's general practitioner if an established relationship exists.
16.10(i)
Researchers must specify the procedure to be followed in response to a request for access to stored genetic material, or information generated by the research.
16.10(j)
Consent should normally be specific. However, the nature of genetic research may make it difficult to be specific at the time of collection. It is appropriate to ask potential research participants to consent to storage of genetic material for unspecified future use, on the basis that consent will be sought at the time a specific research project is identified. People should be given the opportunity to refuse permission for storage. If they do refuse, the genetic material and information should not be used for future research and should be disposed of after a specified period following the completion of the current project. However, it should be noted that participants who do not wish their genetic information and genetic material to be used for future research in identified or coded form may consent to its use in de-identified form.
16.10(k)
This should be done at the time of collecting the samples, but if this has not been done, the views of the group should be obtained when the time for disposal arrives and prior to disposal.
16.10(l)
In research involving genetic material, withdrawal may affect not only the research participant, but also her or his blood relations. One example of this would be where the research sample is unique and potentially useful to the clinical needs of other family members. In such situations, there may be ways of meeting the wish of the participant to withdraw from the project while at the same time preserving the clinical potential of the genetic information and material for the rest of the family.
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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 Section 8: 'Research involving collectivities'.
This paragraph is regarded as sufficiently clear, and so no commentary has been added.
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Where the requirement for consent could be waived
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.
This paragraph is regarded as sufficiently clear, and so no commentary has been added.
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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:
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the nature of any existing consent relating to the collection and storage of the genetic material and genetic information;
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the justification presented for seeking waiver of consent including the extent to which it is impossible or difficult or intrusive to obtain specific consent;
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the proposed arrangements to protect privacy, including the extent to which it is possible to de-identify the genetic material and genetic information;
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the extent to which the proposed research poses a risk to the privacy and wellbeing of the individual;
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whether the research proposal is an extension of, or closely related to, a previously approved research project;
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the possibility of commercial exploitation of derivatives of the sample; and
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relevant statutory provisions.
When an HREC waives the requirement for consent about stored genetic information or genetic material, it needs to decide whether the data will be used in potentially identified (coded) or de-identified form. If in potentially identified (coded) form, the committee will need to decide whether the code that links the information and material to the identifiers should be held by the researchers or by a third party. Careful consideration should be given to the relative benefits and disadvantages of de-identifying specimens.
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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.
This paragraph is regarded as sufficiently clear, and so no commentary has been added.
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Genetic counselling
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.
It is important to recognise that the implications of research results may not be fully understood by participants at the time that the research is carried out and that very sensitive issues may be raised later. Therefore, specialist genetic counselling services should be made available as needed.
Details of the standard of care required and who should provide it may be found in Ethical Aspects of Human Genetic Testing: an Information Paper (NHMRC 2000).
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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
Researchers should discuss with participants any foreseeable potential consequences from participation. For example, research that currently seeks to identify mutations in known dominant breast cancer genes, with a specific set of consequences for participants if a mutation is found, may ultimately progress to research on the polygenic basis of susceptibility to breast cancer and the interaction of susceptibility genes with environmental factors. [Footnote 26] This could have a different set of potential consequences for participants.
Points to consider NS 16.116.16
- What kind of genetic research is involved?
- Will the research participants be individuals, families or populations?
- Does the research involve pre-symptomatic, susceptibility or carrier testing?
- Does the research require the collection of genetic material from participants?
- Is the research narrow in focus or broad ranging?
- Is it gene therapy research? (See relevant NHMRC guidelines)
- Does the research involve studies on embryos? (See relevant NHMRC guidelines)
- Does the research raise issues of cultural or social sensitivity? If so, these should be taken into account. Special safeguards may be necessary to protect vulnerable groups. If the research involves a collectivity, does the project have the support of the collectivity as well as individual participants?
- Will the project require approaches to research participants' relatives? If so who is the most appropriate person to make this approach and how will the project be presented to these relatives?
- How are the data collected in the course of the research to be stored? Who will have access to this data and in what form will it be disseminated? If material is to be stored in a genetic register, who will be responsible for supervision of the register and what safeguards have been developed to regulate access to it?
- Will the proposed research involve identified, potentially identifiable (coded) or de-identified information and material? If the first situation, what safeguards are in place to ensure that the privacy and confidentiality of personal information is protected, both in general and within the family? In the second situation, who has access to the codes and what procedures have been developed to ensure that these codes are secure?
- How is informed consent to be obtained? Do the consent form and information leaflet address all relevant issues? In particular, will participants be informed if the research has the potential to generate significant information about their personal health or that of their children, or their future children? Will participants be advised if the research has the potential to generate information of social significance, for example non-paternity or information that may influence access to insurance?
- Does the research involve storage of genetic information and material? If so, will consent for storage be obtained? Has the duration of storage of the information and material, its future research uses and its disposal, been addressed?
- If the research involves the use of samples collected for previous research or clinical purposes and stored, will consent be obtained from each of the donors with regard to the proposed project? If not, has the researcher provided adequate justification for the HREC to waive the requirement for consent? If the research will involve use of genetic material stored as a legal requirement or for potential clinical use (for an individual or for a family), has provision been made to ensure that sufficient material is retained for the original purpose?
- Will research participants be advised of project results? If so, will
this information be grouped data or relate to each individual
participant? If the latter, how are the research and clinical issues to
be separated? Are quality controls on the research procedures sufficient
to justify clinical inferences and are appropriate counselling
facilities available?
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Commentary on the National Statement
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A Research Ethics Collection
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A Research Law Collection
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