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TCPS 2 - Chapter 13

Human Genetic Research

Introduction A. Application of Core Principles to Genetic Research
B. Plans for Managing Information Revealed through Genetic Research
C. Genetic Counselling
D. Genetic Research Involving Families
E. Genetic Research Involving Communities and Groups
F. Genetic Material Banks
G. Gene Transfer

Introduction

Human genetic research involves the study of genetic factors responsible for human traits and the interaction of those factors with each other, and with the environment. Research in this area includes the identification of genes that comprise: the human genome; functions of genes; the characterization of normal and disease conditions in individuals, biological relatives, families, communities and groups; and studies involving gene therapy. Participants in clinical trials are increasingly being asked to participate in genetic studies in addition to the primary clinical trial. With the growth of genetic research, especially whole-genome research,researchers, research ethics boards (REBs) and participants should be aware of the ethical issues that this research raises.

Genetic research may have profound social impacts, both positive and negative. As genetic research advances, genes and their alleles (versions) are being identified, but the function of each gene and its relationship to disease conditions, or other characteristics may not be clear. In single-gene disorders, for example, an allele of a single gene is directly related to a hereditary disease. More commonly, diseases or personal characteristics are influenced by multiple genes, as well as environmental factors.

Research may help us better understand the human genome, and genetic contributions to health and disease. It may lead to new approaches to preventing and treating disease. Individuals may benefit from learning about their genetic predispositions, if intervention strategies are available to prevent or minimize disease onset and mitigate symptoms, or to otherwise promote health. Genetic research also has the potential, however, to stigmatize individuals, communities or groups, who may experience discrimination or other harms because of their genetic status, or may be treated unfairly or inequitably.

A. Application of Core Principles to Genetic Research

Genetic information has implications beyond the individual because it may reveal information about biological relatives and others with whom the individual shares genetic ancestry. The participation of an individual in genetic research may therefore have ramifications for these other persons, communities or groups. In some cases, researchers specifically seek to conduct genetic research with members of families, communities or groups that requires particular attention to the social and cultural contexts in which participants live. Research with families, communities or groups may raise special considerations regarding recruitment of participants, consent processes, privacy and confidentiality.

Article 13.1 Guidance regarding a proportionate approach to research ethics review, consent, privacy, confidentiality, research with human biological materials and other ethical guidance described in earlier chapters of this Policy apply equally to human genetic research.

Application In developing and reviewing proposals involving genetic research, researchers and REBs should refer to earlier chapters in this Policy, including consent in Chapter 3, privacy and confidentiality in Chapter 5, and human biological materials and materials related to human reproduction in Chapter 12. Other chapters relevant to the specific research proposal should also be consulted, such as Chapter 9 concerning research involving Aboriginal peoples or Chapter 11 on clinical trials. This chapter does not reiterate guidance set out in earlier chapters. Rather, it focuses on issues that arise specifically in the context of human genetic research and provides guidance for managing information revealed through genetic research, provision of genetic counselling, participation of families, communities and groups in genetic research, banking of human biological materials, and research involving gene transfer.

B. Plans for Managing Information Revealed through Genetic Research

Article 13.2 Researchers conducting genetic research shall:

  1. in their research proposal, develop a plan for managing information that may be revealed through their genetic research;
  2. submit their plan to the REB; and
  3. advise prospective participants of the plan for managing information revealed through the research.

Application The types of information that may be revealed through genetic research – and the implications of this information for participants and their biological relatives – require that researchers and REBs ensure that an appropriate plan is in place for managing information. In some cases, genetic research may reveal known gene-disease associations or other information, including incidental findings, that may be clinically relevant for individuals (or their biological relatives) in treating or alleviating health conditions or risks. In other cases, research may reveal information that is inconclusive in its scientific, clinical or other implications. Genetic research may also reveal information about family relationships, including adoption and non-paternity.

This range of information varies in its possible implications for individuals. In some cases, follow-up clinical testing and counselling may be recommended. Information may also have implications for biological relatives and may raise disclosure considerations, as discussed in Article 13.3(b). Genetic information may also affect eligibility for employment or insurance if, for example, an individual who acquires genetic information is required to disclose disease predisposition risks to employers or insurers.

The plan for managing information shall take into account factors such as clinical relevance, risks and potential benefits for participants and others who may be affected. Plans may include sharing individual findings with participants, or notification of general,non-identifiable research results through newsletters, websites or other means. In regard to release or publication of research findings, the provisions of Chapter 5 apply.

Article 13.3 Where researchers plan to share findings with individuals, researchers shall provide participants with an opportunity to:

  1. make informed choices about whether they wish to receive information about themselves; and
  2. express preferences about whether information will be shared with biological relatives, or others with whom the participants have a family, community or group relationship.

Application The core principles on which this Policy is based emphasize autonomous choices regarding research participation. Researchers shall explain to participants the types of findings that may be revealed (as discussed in the Application of Article 13.2), and the potential implications of these findings, to permit participants to make informed choices about whether or not to receive information. Since the right to privacy includes a right not to know, researchers shall give participants options for receiving or refusing different types of information.

Where individual findings will be shared with participants, researchers must develop appropriate procedures for communicating findings in accordance with the participant’s preferences or instructions. These procedures shall be clearly described in the researcher’s plan. This may include direct communication of findings to the participant, or communication to a specified health care provider or other party authorized to receive the information. As discussed below, sharing research findings with individuals may give rise to a need for genetic counselling.

Participants in genetic research shall have an opportunity to express their preferences about the sharing of information with relatives or others. These preferences may be subject to overriding considerations that may warrant disclosure of information to relatives in exceptional circumstances (e.g., if genetic research reveals information about a serious or life-threatening condition that can be prevented or treated through intervention). Articles 5.1 and 5.2 provide guidance on researchers’ ethical duty of confidentiality, and situations where researchers may have a requirement to disclose information to third parties.

Chapter 5 also requires researchers to provide details to the REB regarding their proposed measures for safeguarding information throughout its life cycle, including dissemination, and to guard against risks of re-identification. Funders of human genomics research may have policies requiring researchers to make genome sequence data publicly accessible. Where such policies apply, researchers must advise the REB and participants of data-sharing requirements, and measures for protection of personal information (see Articles 5.2 and 5.3 for further guidance).Publication of aggregated data from genome-wide association studies has raised concerns about individual re-identification.1 This underscores the need for researchers and REBs to ensure that measures for safeguarding information are responsive to risks that arise from continuing advances in genetic research and data linkage.

C. Genetic Counselling

Article 13.4 Where researchers plan to share results of genetic research with participants, the research proposal should make genetic counselling available at that time, where appropriate.

Application Where the plan for managing information revealed in genetic research involves sharing individual findings with participants, genetic counselling may be required to explain the meaning and implications of the information. For example, genetic counselling can help explain the clinical significance of the information, whether health care interventions or lifestyle changes are recommended, and any implications of the information for biological relatives. Researchers should explain differences between genetic testing in a research context and testing in a clinical context. Clinical genetic testing may be needed to clarify or confirm findings obtained in research. Where researchers share information with biological relatives or other family, community or group members, genetic counselling should be made available to them as well as the participants. The counselling service provider must have the appropriate experience or training to provide genetic counselling, but need not necessarily hold a diploma, degree or professional designation in genetic counselling.

D. Genetic Research Involving Families

Article 13.5 Researchers who seek to recruit members of a family to participate in genetic research shall:

  1. ensure recruitment processes respect privacy and other personal interests of family members; and
  2. seek consent from individual family members.

ApplicationRecruitment of members of a family may take place in various ways: through (a) the researcher, (b) an individual participant, or (c) a third party on behalf of an individual participant. A family group, such as parents and a child, or several adult siblings, may all receive an invitation at the same time from the researcher to participate in genetic research. Alternatively, researchers may seek permission from an individual participant to contact family members to invite participation. It may be preferable for the participant to make initial contact with the family member, in order to respect privacy interests or known sensitivities. The participant may prefer to identify a third party to inform family members about the opportunity to participate in genetic research. However, an approach by someone in a position of authority over family members may raise concerns about undue influence or manipulation. Refer to Chapter 3 for further guidance in regard to the voluntariness of consent.

Family members may have conflicting views about participation in research, and some may have specific sensitivities or objections. Researchers should recognize the potential for conflict within families and be respectful of any known sensitivities. Where researchers seek participation from children or other members of a family who may lack decision-making capacity to consent, the applicable provisions in Chapter 3 shall be followed.

E. Genetic Research Involving Communities and Groups

Article 13.6 Where researchers intend to recruit participants for genetic research based on their membership in specific communities or groups, it may be appropriate for researchers to discuss the research with community or group members, and/or their leaders, in addition to seeking consent from individual participants. In these cases, researchers shall provide details to the REB about their proposed methods for engaging in discussion.

Application Some genetic research seeks to explore genetic variations within specific communities or groups. Such research may raise ethical concerns regarding stigmatization, unfair or inequitable treatment, and social disruption in communities or groups – especially if individual members disagree about participation in research. Discussion with formal or informal leaders or other members of the community or group may be appropriate. This determination will depend on factors such as:the objectives of the proposed research (in particular, the extent to which membership in, or characteristics of, the community or group are a key aspect of the research); the risks and potential benefits of the research to the community or group; the nature of the community or group from which participants will be recruited; and the community’s or group’s organizational structure.

Individuals within a community or group may have conflicting views about participation in research, including disagreements between leaders and members. Such conflicts may involve attempts by some to influence or coerce choices of others about whether to participate in research. Researchers should recognize the potential for conflict within communities or groups, and ensure that consent and discussion processes facilitate free and informed decisions by individual members. Refer to Chapter 3 for further guidance in regard to voluntariness of consent.

Researchers who propose to conduct genetic research involving Aboriginal participants or communities, or to use human biological materials that are identifiable as originating from Aboriginal peoples, should refer to Chapter 9 for further guidance.

Researchers who propose to conduct genetic research involving Aboriginal participants or communities, or to use human biological materials that are identifiable as originating from Aboriginal peoples, should refer to Chapter 9 for further guidance.

F. Genetic Material Banks

Article 13.7

  1. Researchers who propose research involving the collection and banking of genetic material shall indicate in their research proposal, and in the information they provide to prospective participants, how they plan to address the associated ethical issues, including confidentiality, privacy, storage, use of the data and results, possibility of commercialization of research findings, and withdrawal by participants, as well as future contact of participants, families, communities and groups.
  2. Researchers who propose research involving the secondary use of previously collected and banked genetic material shall, likewise, indicate in their research proposal how they plan to address associated ethical issues.

Application Collection of human biological materials, including genetic materials,and their retention in biobanks provides an increasingly important research resource. Guidance for research involving human biological materials (see Chapter 12) applies to banking of genetic material. Chapter 12, Section D, provides guidance for the creation of biobanks of genetic material, and Section C addresses access to, and use of, previously collected genetic material. Researchers who intend to bank genetic material shall inform participants of the potential for secondary use. See Chapter 5 for guidance regarding secondary use.

G. Gene Transfer

Guidance set out in Chapter 11 applies to clinical trial research involving gene transfer, and Article 12.9 is applicable to gene transfer in utero. In the context of gene transfer research, researchers and REBs shall pay careful attention to the need to assess safety, minimize risk, and minimize therapeutic misconception (see Chapter 11, Section C). Researchers have obligations to share with participants new information that may be relevant to ongoing consent, and to follow up with former participants to inform them of issues that may affect their welfare.

Gene alteration involves the transfer of genes into cells to induce an altered capacity of the cell. Viruses are commonly used vectors (carriers) to introduce the gene into the host genome. Gene alteration is irreversible – the cell and its descendants are forever altered and introduced changes cannot be removed. The possible use of germ line alteration implies changes that could be transmitted to future generations.

Gene transfer research that involves alteration of human germ line cells is governed in Canada by the Assisted Human Reproduction Act2 and its Regulations. Researchers should be aware of how this law applies to their work, such as the Act’s prohibition on knowingly altering the genome of a cell of a human being, or in vitro embryo, such that the alteration is capable of being transmitted to descendants.

The special circumstances of gene transfer must be explained to prospective participants (or authorized third parties) during the consent process. This includes providing information about uncertain and potentially latent risks of gene transfer, and any processes for long-term follow-up of participants. Guidance regarding inclusion in research (see Chapter 4) should be followed where gene transfer research involves children, or others who lack the capacity to decide for themselves.

Endnotes

[1] In 2008, the U.S. National Institutes of Health amended its policy on publication of and access to data from genome-wide association studies. See National Institutes of Health, Modifications to Genome-Wide Association Studies (GWAS) Data Access, August 28, 2008, [Back]

[2] Assisted Human Reproduction Act (2004, c. 2). [Back]

Reference

Best Practices for Health Research Involving Children and Adolescents, Center of Genomics and Policy, 2012.

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