Informed Consent for Genomics Research

Informed Consent Elements Tailored to Genomics Research

The main elements required by federal regulations to be included in a consent form for a research project involving human subjects (i.e. research participants) are listed below. Beneath each element is a discussion of relevant issues to consider in the context of genomics research and example language adapted from existing consent documents developed for various National Institutes of Health (NIH) sponsored research projects.

Genomics studies may involve prospectively collecting new samples and information or using previously collected samples and information. For genomics studies involving the use of previously collected samples and information, re-consent of research participants may be appropriate. Therefore, some of the example language below reflects language that could be used in re-consent forms (see section "Consent Form Examples and Model Consent Language" to view an example of a re-consent form for a genome-wide association study).

These considerations are intended to be complementary to requirements, regulations and guidance documents, including: 45 CFR 46 [access.gpo.gov], 21 CFR 50 [access.gpo.gov], 21 CFR 56 [access.gpo.gov], and other guidance from The Office for Human Research Protections [hhs.gov] and the Food and Drug Administration [fda.gov]

Note: When developing a consent form it is important to use simplified language that is not overly technical and takes into consideration the literacy level of potential research participants. Furthermore, potential participants should be given ample time to consider participating in a project so that they can develop informed questions as their understanding of the research project matures.

Purpose of Research Project

Potential participants should be given a succinct explanation of why they have been approached for the proposed study and who is sponsoring the project. This section should include topics such as a brief description of the underlying genomic science, the study design, the diseases(s) or condition(s) being studied, and the immediate and long-term goals of the study. Use of simplified language that is not overly technical may help potential participants understand the rationale for the study.

Example Language
Why is this research study being done?

We are requesting your participation in a study involving blood and tissue samples as well as medical information that were previously collected from you as part of [Insert Name of Project]. Your blood and tissue samples contain genes, which are made up of DNA and which serve as the "instruction book" for the cells that make up our bodies. Your samples and medical information will help us study how genes interact with other factors to influence the development of diseases such as cancer, cardiovascular disease, diabetes and glaucoma.

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Description of the Research Procedures

It is important for potential participants to understand what they will experience as research participants. Dividing the research procedures into stages may make the information easier to understand. The description should cover topics such as:

  • The process for the collection of samples (blood or other tissue) and health information.
  • How samples and health information will be coded and stored.
  • Whether there will be access to a research participant's medical records and, if so, the process for accessing them (e.g., one-time vs. ongoing collection of information from medical records).
  • The duration of storage.
  • Whether and how samples and health information will be shared with qualified investigators for appropriate research use both during the study period and after the study ends.
  • A general description of the types of researchers who will have access to samples and data (e.g., academic, industry, government)
  • Whether and how future contact (i.e. re-contact) is planned.

Sharing of data: One of the main factors that distinguishes genomic-related research studies from other studies involving human research participants is that they generate large datasets of genomic and health information that are increasingly being deposited in databases or larger data repositories for sharing with the broad biomedical research community. These databases and data repositories may be fully open or accessible only with the permission of a Data Access Committee (e.g. database of Genotypes and Phenotypes (dbGaP) ), depending on the nature of the data, local policies, and other factors.

Many of these datasets are useful beyond the particular aims of the study for which they were originally collected, especially as various diseases turn out to have mechanisms in common. Thus, the value of these data can increase when they are allowed to be shared with the broader research community and are not restricted in use to particular diseases or for a limited period of time.

This section should describe the mechanism(s) that will be used to store and share the data and should also indicate whether samples and genomic data will be shared with the broader research community both inside and outside the sponsoring institution.

Investigators should note that the NIH GWAS Policy (Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS) [grants.nih.gov]) states that "for prospective studies, in which GWAS are conceived within the study designs at the time research participants provide their consent, the NIH expects specific discussion within the informed consent process and documentation that participants' genotype and phenotype data will be shared for research purposes through the NIH GWAS data repository" (currently dbGaP [ncbi.nlm.nih.gov]).

Future Contact: This section should clearly outline the investigator's intentions for future contact with the research participant, if any, and how the investigator or other study staff will contact the research participant at a later date.

Example Language
Description of the Research Procedure

Collection of Samples and Medical Information

  • If a blood sample (or other tissue sample) was collected from you, we seek permission to receive some of this blood (or other tissue) and genetic material that already may have been extracted from this blood (or other tissue).
  • If an adequate blood sample is not available for this project, we will collect a sample from you by drawing about 4 tablespoons of blood from a vein in your arm. If you object to having blood drawn, we will collect tissue from you by swabbing cells from the inside of your cheeks.
  • We also will collect information from your medical records, including your age, ethnic background, diagnosis, disease history, medical treatments, and response to treatments.

Coding of Tissue Samples and Medical Information

  • Your blood (or other tissue) sample and medical information will be labeled with a code.
  • Only Dr. ____________ at (Institution) will have the information that matches the code to traditionally-used identifying information, such as your name, address, phone number, or social security number. Dr. ___ will keep the information that matches the code to this traditionally-used identifying information in a safeguarded database. Only very few, authorized people, who have specifically agreed to protect your identity, will have access to this database. All other researchers and personnel, including those who will be working with your samples and medical information, will not have access to any of the traditionally-used identifying information about you.

Storage and Release of Samples and Medical Information

  • Your coded blood (or other tissue) samples will be sent to an NHGRI-sponsored sequencing laboratory for detailed analysis. Remaining portions of your samples will be stored for an unlimited period of time for future use in research related to diseases or, perhaps, in other research projects.

  • Information from analyses of your coded samples and your coded medical information will be put into databases along with information from the other research participants. These databases will be accessible by the Internet.

    • Anonymous information from the analyses will be put in a completely public database, available to anyone on the Internet.

    • Your coded medical information and information from more detailed analyses of your coded samples will be put in a controlled-access database. The information in this database will be available only to researchers who have received approval from an NIH Data Access Committee.

    • Please note that traditionally-used identifying information about you, such as your name, address, telephone number, or social security number, will NOT be put into either the public or controlled-access databases for this project.

Re-contact: In the future, we may want to obtain additional samples or follow-up information about your health or medical care. Should this be needed, a person from [Insert Institution Name] will contact you to ask whether you would be interested in participating in this additional research.

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Financial Compensation, Costs and Commercialization

It is important to communicate to the potential research participant whether there will be any 1) financial compensation for taking part in the research project, 2) costs for taking part in the research project, and 3) compensation for a research-related injury.

Any proposed compensation should not be included in the "Benefits" section of the consent form.

It is possible that some of the genomics research conducted either by the primary investigator or secondary users could eventually lead to the development of new diagnostic tests, new drugs or other commercial products. The section should also indicate that if this should occur, there is no plan for research participants to receive any part of the profits generated from such products.

Example Language
What are the costs and payments?

You will not be paid to participate in this project.

Your blood (or other tissue) samples and your medical information will be used only for research purposes and will not be sold. It is possible that some of the research conducted using your samples or information eventually will lead to the development of new diagnostic tests, new drugs or other commercial products. Should this occur, there is no plan to provide you with any part of the profits generated from such products.

We do not charge you for participation in the study.

The chance that you will be physically injured as a result of participating in this project is very small. However, if you are physically injured as a result of participating in this project, emergency medical treatment for your research-related injury will be provided to you at no cost.

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Potential Benefits of Participating in the Project

Potential benefits to the research participant and to others should be described in the consent form. It is important to include potential benefits for society, but investigators should be careful to distinguish between potential benefits to the individual research participant versus society.

Example Language
Are there any benefits to participating in the project?

You will not benefit personally from giving a sample for this project because this kind of research usually takes a long time to produce medically useful results. However, your participation will help researchers around the world understand more about human genetic variation and how it relates to health and disease.

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Potential Risks of Participating in the Project

Research participants need to be informed of the risks in any research project, including genomics research projects where large amounts of genomic- and health-related data may be generated, stored, and broadly shared with other qualified investigators for appropriate use. The risks attached to genomics research and the extent to which we understand them need to be clearly articulated to research participants through the informed consent process. Discussing the likelihood of the risk as well as the severity of the risk may help research participants better understand the context of these kinds of risks. Possible risks may vary depending upon the study protocol, but as with most genomics research, the potential risks are centered on psychological and social risks for the research participant and, possibly, their family.

Examples include risks such as:
  • Risks related to broad sharing of phenotype and genomic data (e.g. genotype, DNA sequence, expression profiles, etc.).
  • Risks of the data sharing model for the study (e.g. the possibility that the coded 1 data may be released to members of the public, insurers, employers, and law enforcement agencies).
  • Risks of receiving information that is unwanted by the participant.
  • Risks of computer security breaches or other unanticipated distributions arising from maintaining data in an electronic format
  • Risks to relatives or identifiable populations or groups.
  • The uncertainty of findings related to genetic risk for a given disease or trait.
  • Privacy risks, both those known and those unforeseen at this time.
  • Any physical risks, such as those associated with collecting blood or other tissues samples.

Recently, federal legislation (The Genetic Information Nondiscrimination Act, or GINA) was passed that will provide baseline protection against discrimination in employment and health insurances decisions across the nation. President Bush signed the act into federal law on May 21, 2008. The parts of the law relating to health insurers will take effect by May 2009, and those relating to employers will take effect by November 2009. Please note that this federal protection may be eclipsed by more extended state privacy or discrimination laws, so it is important to clearly present the issues to consider in the context of where the research is being done.

OHRP has issued the Guidance on the Genetic Information Nondiscrimination Act: Implications for Investigators and Institutional Review Boards regarding consideration of GINA in the review of genetics protocols and informed consent forms.

For a list of frequently asked questions regarding GINA, please refer to the Department of Health and Human Services Information for Researchers and Health Care Professionals.PDF file

An individual's participation in a research study could have implications for his/her family members. When appropriate, researchers should try to include willing family members in the consent process through discussion and, if possible, educational materials.

Example Language
Physical Risks

  • If a blood sample is not taken from you, there are no physical risks associated with this project.
  • If a blood sample is taken from you, there are very few physical risks. Possible side effects from drawing the blood sample include mild pain, bleeding, bruising, and infection at the site of the needle insertion. Fainting or light-headedness can sometimes occur, but usually last only a few minutes.
Psychological or Social Risks Associated with Loss of Privacy
  • Your privacy is very important to us and we will use many safety measures to protect your privacy. However, in spite of all of the safety measures that we will use, we cannot guarantee that your identity will never become known. Although your genetic information is unique to you, you do share some genetic information with your children, parents, brothers, sisters, and other blood relatives. Consequently, it may be possible that genetic information from them could be used to help identify you. Similarly, it may be possible that genetic information from you could be used to help identify them.
  • While neither the public nor the controlled-access databases developed for this project will contain information that is traditionally used to identify you, such as your name, address, telephone number, or social security number, people may develop ways in the future that would allow someone to link your genetic or medical information in our databases back to you. For example, someone could compare information in our databases with information from you (or a blood relative) in another database and be able to identify you (or your blood relative). It also is possible that there could be violations to the security of the computer systems used to store the codes linking your genetic and medical information to you.
  • Since some genetic variations can help to predict the future health problems of you and your relatives, this information might be of interest to health providers, life insurance companies, and others. Patterns of genetic variation also can be used by law enforcement agencies to identify a person or his/her blood relatives. Therefore, your genetic information potentially could be used in ways that could cause you or your family distress, such as by revealing that you (or a blood relative) carry a genetic disease.
  • There also may be other privacy risks that we have not foreseen.

There are state and federal laws that protect against genetic discrimination.

There is a new federal law called the Genetic Information Nondiscrimination Act (GINA). In general, this law makes it illegal for health insurance companies, group health plans, and most employers to discriminate against you based on your genetic information. However, it does not protect you against discrimination by companies that sell life insurance, disability insurance, or long-term care insurance.

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Confidentiality

Genome-wide association studies, genome sequencing projects, and related genomics research studies typically generate rich phenotypic and genomic datasets that are often deposited in controlled access databases for storage and wide-spread sharing with the research community. This presents special challenges to privacy and confidentiality protections. For a more detailed discussion of these challenges, see the Lowrance and Collins paper on identifiability in genomics research.2

It is important to address participants' concerns about protection of their identities against undesired intrusions (privacy) and about limiting the access to study information that might identify them (confidentiality). This section of the consent document should describe the level of confidentiality of the research data and the measures planned to ensure that confidentiality is maintained. Participants should know whether their samples will be anonymous/non-identifiable (i.e. personal identifiers will not be kept with their sample and the sample will not have a code number that can be used to identify the participant) or coded and considered de-identified (i.e. any identifying information such as name or SS# will be replaced with a code and only a few authorized people will have access to this code to link samples and data back to personal identifiers).

In special circumstances, such as for reportable conditions like HIV status and child abuse, absolute confidentiality may not be possible. If this or a similar possibility exists, then disclose the conditions under which information must be disclosed and to whom.

Certificates of Confidentiality are an important tool to protect the privacy of research study participants. The NIH encourages their appropriate use and has made information on their applicability and use available to investigators at the Certificates of Confidentiality Kiosk [grants.nih.gov].

Certificates of Confidentiality are issued by the NIH to protect identifiable research information from forced disclosure. They allow the investigator and others who have access to research records to refuse to disclose identifying information on research participants in any civil, criminal, administrative, legislative, or other proceeding, whether at the federal, state, or local level. Certificates of Confidentiality may be granted for studies collecting information that, if disclosed, could have adverse consequences for participants or damage their financial standing, employability, insurability, or reputation. By protecting researchers and institutions from being compelled to disclose information that would identify research participants, Certificates of Confidentiality help achieve the research objectives and promote participation in studies by assuring confidentiality to participants.

If a Certificate of Confidentiality is in effect, it should be reflected in the consent form. Participants should be given a fair and clear explanation of the protection that it affords, including the limitations and exceptions noted in the "Extent and Limitations of Coverage" section of Certificates of Confidentiality: Background Information [grants.nih.gov].

Example Language
Confidentiality

We will make every attempt to protect your confidentiality and to make sure that your personal identity does not become known. This signed consent form will be stored in a locked file that will be accessible only to a very small number of authorized people involved in this project. We will carefully follow the coding, storage, and release plan explained in the Description of the Research section of this document.

We have obtained a Certificate of Confidentiality from the Department of Health and Human Services. The Certificate is designed to prevent us from being forced to disclose identifying information for use in any federal, state, or local civil, criminal, administrative, legislative, or other court proceeding, even if faced with a court subpoena. You should understand, however, that a Certificate of Confidentiality does not prevent you or a member of your family from voluntarily releasing information about yourself or your involvement in this research. We may not withhold information if you give your insurer or employer or a law enforcement agency permission to receive information about your participation in this project. This means that you and your family must also actively protect your own privacy.

The Certificate does not prevent us from taking steps, including reporting to authorities, to prevent serious harm to yourself or others. Such disclosures will be made as described below.

The research team may share your information with:

  • The Department of Health and Human Services (HHS), to complete federal responsibilities for audit or evaluation of this project;
  • Public health agencies, to complete public health reporting requirements;
  • Hospital or university representatives, to complete hospital or university responsibilities for oversight of this study;
  • Your primary care physician if a medical condition that needs urgent attention is discovered;
  • Appropriate authorities to the extent necessary to prevent serious harm to yourself or others.
  • [Insert any additional necessary language related to any applicable state mandatory reporting requirements (e.g., findings of STDs, TB, etc.]

[Insert here, or below, the institutionally-required language for the Notice of Privacy Practices under the Health Insurance Protection and Accountability Act (HIPAA).]

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Returning Results to Research Participants

The return of individual research results to participants should be carefully considered because the information can have implications for the participant's health and well-being. This information might also increase participants' stress and anxiety. While clinically valid and meaningful results may have a positive impact on an individual's health, harm such as incorrect medical treatment or unnecessary anxiety might occur if research results without documented clinical relevance are provided back to participants or used for medical decision-making.3

Genomics research such as GWA and sequencing studies will find many associations between particular genetic loci and diseases. However, these initial findings will need much additional research before their clinical significance is understood and appropriate actions are determined.

The decision on whether to return research results to participants (either individual research results or general research findings through newsletters, study Web site, etc) should be made by the study investigator in consultation with his/her IRB. This decision, including the format and process for returning results, should be clearly communicated.

In some cases, applicable state or local laws may require the return of specific test results to participants (e.g., the diagnosis of particular communicable diseases). In such cases, a statement to this effect should be included in the consent form.

Example Language
Research Results

In general, we will not give you any individual results from the study of the samples you give us. This is because it will probably take a long time for this project to produce health-related information that we will know how to interpret accurately. However, we will tell you if we find that you have a communicable disease that we are required by law to report. We will also periodically summarize interesting general findings from this project and how they are contributing to our understanding of health and disease on our project website and through a periodic newsletter.

The National Heart Lung and Blood Institute (NHLBI) convened a Working Group on Reporting Genetic Results in Research studies to discuss if, when, and how genetic information should be reported to study participants. The conference report and recommendations for reporting genetic research results is a useful resource.4

In March 2008, a consensus statement based on an interdisciplinary workshop convened to develop research ethics recommendations for whole-genome research was published.5 Two recommendations address the return of results: (1) "Personal genome projects should have an established process approved by a research ethics committee for evaluating whether findings (incidental or otherwise) meet criteria for offering results to individual participants. This process should be highlighted in the initial consent and should acknowledge the participants' rights not to know certain results." (2) "The process of identifying and disclosing research results should involve professionals with the appropriate expertise required to provide the participant with sufficient interpretive information. In general, the results offered should be scientifically valid, confirmed, and should have significant implications for the subject's health and well-being. Plans to return other forms of data-such as significant non-health-related data-should be built into the study design and governance structure."

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Withdrawal

Participants have the right to withdraw from the study at any time and the implications and consequences of withdrawal should be discussed in this section of the form and as part of the overall consent process.

For certain genomic studies, complete withdrawal of samples and information may not be possible once samples have been distributed to laboratories and information has been posted for broad data sharing. In such circumstances, a full explanation of the inability to withdraw all samples/information should be provided.

If participant samples are being shared with other investigators and labs or there is the potential for sharing of these samples in the future, the consent form should clearly explain whether or not these samples can be destroyed and what the process will be.

For studies where individual-level genomic, demographic, and health data will be deposited in a public or controlled-access data repository for broad sharing with the research community, the consent form should reflect the data repository policy. For example, a data repository may allow submitting investigators and their institutions to request removal of data on individual participants from the data repository if a research participant withdraws consent. These participants' data can then be excluded from future distributions, but data that have already been distributed for approved research use will not be able to be retrieved.

Example Language
Withdrawal from the Project

If you would like to withdraw from this project you can contact [Insert Name & Contact Information of Principal Investigator] at [Insert Name of Institution] and he/she will destroy any remaining tissue samples of yours that have been obtained for the study. In addition, it may be possible for him/her to destroy the link between you and your genetic and medical information. However, the samples and data generated from your samples that have already been distributed to other research centers or placed in the research databases cannot be withdrawn.

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Alternatives to Participating in the Project

As outlined in 45 CFR 46.116(a), the consent form needs to include a disclosure of appropriate alternative procedures or courses of treatment, if any, that might be available to the participant. For genomics studies this generally means that the individual may choose not to participate in the project.

Example Language
Alternatives to Participating in the Project

The alternative option is not to participate.

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Voluntary Participation

As outlined in 45 CFR 46.116 (a), this section should convey that participation is voluntary, refusal to participate will involve no penalty or loss of benefits to which the participant is otherwise entitled, and the participant may discontinue participation at any time without penalty or loss of benefits to which the participant is otherwise entitled.

Example Language
Voluntary Participation

The choice to participate in this research by donating your tissues and medical information is completely up to you. No matter what you decide to do, your decision will not affect the medical care or benefits to which you are otherwise entitled.

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Contact Information

This section should list whom the research participant should contact for 1) answers to pertinent questions about the research and research participants' rights and 2) in the event of a research-related injury.

Depending on the study population, the contact persons may need to be prepared to respond to research participants in other languages.

Example Language
Contact Information

If you have any questions about the project or about your rights as a research participant, please contact [Insert Specific Institutional Language Here]. If you believe you have a research-related injury, please contact [Insert Specific Institutional Language Here]

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1. Coded means that any identifying information (such as name or social security number) that would enable the investigator to readily ascertain the identity of the individual to whom the private information or specimens pertain has been replaced with a number, letter, symbol or combination thereof (i.e., the code); and a key to the code exists, enabling linkage of the identifying information to the private information or specimens. From Guidance on Research Involving Coded Private Information or Biological Specimens [hhs.gov]

2. Lowrance, W.W. & Collins, F.S. Ethics. Identifiability in genomic research. Science, 317, 600-2. 2007. [PubMed]

3. Excerpted from the NIH Genome-Wide Association Studies Points to Consider for IRBs and Institutions [grants.nih.gov]PDF file

4. Bookman, E.B. et al. Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. Am J Med Genet A, 140, 1033-40. 2006. [PubMed]

5. Caulfield, T. et al. Research ethics recommendations for whole-genome research: consensus statement. PLoS Biol, 6, e73. 2008. [PubMed]

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Last Updated: May 19, 2012