Informed Consent for Genomics Research

Special Informed Consent Considerations

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Approaches for Obtaining Consent in a Research Project

A common approach to obtaining consent for genetics/genomics research is to ask the research participant to agree to participate in all aspects or parts of a study. In this model, if an individual does not agree to participate in all aspects or parts of the study, they are asked not to participate. The four examples of consent forms included in this resource use this approach.

Alternatively, a "tiered" consent approach refers to giving the participants a set of choices and allowing them to choose some options over others to give them greater control of the use of their biological samples and medical information.1

Considerations for the tiered consent approach:

  1. The consent form should be designed in a way that does not allow research participants to make conflicting choices within the same consent form.
  2. If a study investigator provides research participants with a set of choices or levels of participation in the research project, then it is important that the investigator and, as appropriate, the data repository have the appropriate mechanisms in place to track the individual choices and to ensure that the data are used in a manner consistent with those choices.

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Obtaining Consent in Diverse Populations

(Adapted from Simplification of Informed Consent Documents [cancer.gov])

It is essential to include diverse populations in research. Developing the informed consent document and communicating with the potential research participant, family members and, in some cases, the community through the informed consent process requires cultural sensitivity. The standards for valid consent should not be compromised in the face of language, cultural, or physical challenges, but the process may need to be adapted to accommodate cultural preferences.

The information that is given to the subject or the representative must be in language understandable to the subject or the representative (see 45 CFR 46.116 [hhs.gov]). Oral and written translations are part of the process of presenting informed consent information to non-English-speaking persons.

The contact individuals listed in the consent form may need plans to communicate with potential participants in other languages. Culturally-appropriate consent documents and supplemental materials such as videos, audiotapes, and interactive computer programs may be especially helpful in communicating information to individuals from diverse populations, whether or not English is their primary language.

Consent documents should be adapted to the needs of individuals with limited literacy skills and those who are vision impaired. A single research project may require several versions of the informed consent document to tailor the information to a variety of populations.

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Community Consultation/Community Engagement

Research on human genetic variation has implications not only for the individuals who give samples, but also for the broader communities and populations of which they are a part. This is because the research involves the potential for comparing allele frequencies and disease prevalence among groups with different ancestries, sometimes in a context where societal or ethnic discrimination already exists.

Thus, in some situations, in addition to obtaining informed consent from individual sample donors, it may be appropriate to conduct a process of community engagement or community consultation. The goal of community engagement/consultation is to give a broad range of members of the communities approached for the donation of samples an opportunity to:

  • Obtain information about the project so that the decisions of individuals whether to donate samples will be better informed.
  • Share their views about the ethical, social, and cultural issues the project raises for them, their immediate communities, and the broader communities and populations of which they are a part.
  • Provide input into such matters as how the samples from their locality will be collected and described.
  • Remain informed about how the data and the samples are being used and about findings from future studies based on the data and the samples.

In some cases it may also be appropriate to establish a Community Advisory Group to provide ongoing feedback about the project and about how the community's samples are being used.

The National Institute of General Medical Sciences (NIGMS) has developed a bioethics resource: Bioethics Resources on the Web [bioethics.od.nih.gov]. This resource includes the Points to Consider When Planning a Genetics Study That Involves Members of Named Populations [bioethics.od.nih.gov] that was developed by the National Institute of General Medical Sciences (NIGMS).2 This resource contains an introduction to community consultation, working with tribal communities to conduct genetics research and frequently asked questions.

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Studies Involving Children

Including children in genomic studies to better understand how genetic variation influences child health and development is important. However, concerns arise when study protocols include testing asymptomatic children for particular conditions, disease susceptibilities, or carrier status. The American Society of Human Genetics (ASHG)3 and the American Academy of Pediatrics (AAP)4 have published policy statements on this issue. Borry et al. published a review of presymptomatic and predictive genetic testing in minors that might be a helpful resource.5

For children or others who are not legally able to provide consent to participate in a study, a parent or legal guardian provides permission for the person to participate. Even though a child may not be legally able to provide consent, they are still informed about the clinical research to the degree that they are able to understand. They may also have the opportunity to provide their agreement to participate via the process of assent.6

The Office of Human Research Protection (OHRP) developed a comprehensive Frequently Asked Questions About Human Research resource. Within this resource is a section dedicated specifically to Informed Consent FAQs [hhs.gov]. For a summary of the requirements for assent and parental permission in research involving children, please refer to the Informed Consent FAQ response to What are the requirements for assent and parental permission in research with children? [answers.hhs.gov].

Researchers should also consider whether any of the minors enrolled in their study will reach the legal age of consent during the study period. Please refer to the OHRP Informed Consent FAQ response to What happens if a child reaches the legal age of consent while enrolled in a study? [hhs.gov]

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Studies Involving Research Participants with Diminished Decision-Making Capacity

The OHRP Informed Consent Frequently Asked Questions (FAQ) resource outlines what should be considered in seeking informed consent from individuals with diminished decision-making capacity (for example, as a result of trauma, mental retardation, some forms of mental illness, or dementia). Regulations require that the IRB ensure that "additional safeguards have been included in the study to protect the rights and welfare" of all subjects that are "likely to be vulnerable to coercion or undue influence." The regulations include "mentally disabled persons" in this category (45 CFR 46.111(b) [hhs.gov]).

In research involving adult subjects with mental illnesses or cognitive impairments, the IRB and investigator(s) must be knowledgeable about the condition and any level of impairment that is likely to be present in the subject population. The regulations do speak to the fact that the IRB must possess "the professional competence necessary to review specific research activities" (45 CFR 46.107(a) [hhs.gov]). This is achieved either by having members with the appropriate experience and expertise or inviting consultants with competence in the special area to assist in the review of issues that require expertise beyond or in addition to that available on the IRB (45 CFR 46.107(a) and (f) [hhs.gov]). Ensuring such expertise on the IRB improves its ability to make determinations about subject recruitment, enrollment, and informed consent requirements that best match the needs of the subjects.

OHRP notes that for research projects with a longitudinal component that involves studying progressive disorders or aging populations, enrolled research participants may be competent to consent on their own behalf at the outset, yet may experience effects of progressive or intermittent disorders that lead to decisional impairment during the course of the study. In these situations, IRBs and investigators should consider the need to discuss with the prospective participants whether they should designate someone to serve as a legally authorized representative (LAR) at the outset of the study, consistent with all applicable laws.(Please refer to the OHRP Informed Consent FAQ response to: Who can be a legally authorized representative (LAR) for the purpose of providing consent on behalf of a prospective subject? [answers.hhs.gov]) Even if a participant has consented on his or her own accord, a designated representative would be ready to step in as the legally authorized representative if the participant's ability to assess his or her own needs and interests becomes compromised during the study.7

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Educational Materials

As mentioned in the above section on "Obtaining Consent in Diverse Populations," supplemental materials such as videos, audiotapes, and interactive computer programs may be helpful tools to incorporate into the informed consent process to communicate information to research participants.

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[1] McGuire, A.L., Hamilton, J.A., Lunstroth, R., McCullough, L.B. & Goldman, A. DNA data sharing: research participants' perspectives. Genet Med 10, 46-53. 2008.
[2] Available at Points to Consider When Planning a Genetic Study That Involves Members of Named Populations [bioethics.od.nih.gov]
[3] Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Am J Hum Genet, 57, 1233-41. 1995.
[4] Nelson, R.M. et al. Ethical issues with genetic testing in pediatrics. Pediatrics, 107, 1451-5. 2001.
[5] Borry, P., Stultiens, L., Nys, H., Cassiman, J.J. & Dierickx, K. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet, 70, 374-81. 2006.
[6] From Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) "About Clinical Research."
[7] This response was excerpted from OHRP Informed Consent Frequently Asked Questions.

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Last Updated: February 19, 2014