The informed consent process and consent form should reflect the research uses for which samples, genomic data, and health information might be shared. Investigators should ensure that the consent approach for their study is consistent with program or funding agency data-sharing expectations. In general, broad consent is preferable whenever possible to facilitate future research and increase the scientific value of the data. For NIH-funded research, investigators are expected to obtain consent for future uses and broad sharing of genomic and phenotypic data. For more information on genomic data sharing expectations, see the NIH Genomic Data Sharing Policy. When considering the use of tiered or specific consent approaches, investigators should balance the responsibility of protecting participants' interests with the potential loss of opportunities for public benefit due to limitations on future research uses.

Broad consent:

In addition to or in combination with obtaining specific consent for research in which genomics is the primary aim, and for some disease-specific research that considers genomics, participants can be asked to agree to storage of their samples and/or data and to the use of their samples/data in future unspecified research ("general research use"). Broad consent maximizes the utility of collected samples and/or data.

Specific consent:

Sometimes, it may be appropriate to seek consent for more narrowly defined research uses of participant samples and data. In addition, a biobank or data repository could establish a dynamic consent process by which participants can change their consent preferences over time. These consent approaches may increase participation of people who have concerns about privacy or do not want their samples and data used for research on certain topics.

Researchers may include options for data use limitations in the consent form. Some potential limitations on samples and data include:

• Use of the samples and data is limited to health/medical/biomedical purposes; does not include the study of population origins or ancestry.
• Use of the samples and data must be related to a specified disease.
• Use of samples and data must be for not-for-profit purposes or by non-commercial entities.

Under some consent and governance strategies, biobank or data repository coordinators may re-contact participants and seek specific consent for each new study using the samples and data. If researchers contact potential participants because they have a specific genotype (genotype-driven recruitment), they should be aware of participants' expectations about any such future contact and potential concerns and questions about whether they are being recruited because they have a disease risk, which could come as a surprise to them.

Writing consent forms that offer multiple options can be challenging: investigators should ensure that any choices participants can make are clearly described and consistent over time, and that the consent form does not allow participants to make conflicting choices or choices that will be difficult for researchers to interpret. If a study investigator provides research participants with a set of choices or levels of participation in the research project, it is important that the investigator and, as appropriate, the data repository and/or biobank, have the appropriate mechanisms in place to track the individual participant choices and to ensure that data use is consistent with those choices.

For genomic studies involving the use of previously collected samples, research data, and health information, investigators should consult with their IRBs to determine whether the informed consent for the primary research is consistent with the proposed genomic studies. If the original consent seems too narrow, or if it seems highly unlikely that genetic or genomic analyses would have been anticipated, the Institutional Review Boards (IRB) may determine that re-contact of research participants to seek their consent for the proposed genomics research (and likely subsequent data sharing) is appropriate. Therefore, some of the sample language below reflects wording that could be used when re-contacting participants about new uses of their previously collected specimens.

Overall, it is important that investigators inform participants of the primary and any anticipated secondary uses of data (including unspecified future uses) and their options for participation.

Family perspectives are an important and complex topic to discuss during the informed consent process for genomics studies. If individual research results are returned as part of the study, an individual may effectively become the gatekeeper for information that could have both positive and negative implications for his or her biologically-related family members. Depending on the study design, genomics research results about an individual's current or future health risk may be relevant to family members. For example, learning about a relative's genomic results could influence someone's decision to get tested themselves, or it could impact reproductive decision-making. Genomics research results may also reveal unexpected information about family relationships, such as the presence of misattributed paternity or adoptive relationships where a biological relationship was previously assumed. When relevant, researchers should plan how to manage such information, and participants should be informed about the circumstances under which such information would and would not be disclosed to them or to family members. For more information on the return of results, see the Return of Results and Incidental Findings to Participants section.

For genomics research that requires recruiting multiple family members, researchers often ask participants to identify family members eligible for study participation (i.e., requesting family histories with names and contact information, and participants' help to initiate contact with relatives). This sort of family recruitment raises ethical issues about how to recruit families while minimizing unwelcome intrusions and undue pressure upon family members to enroll in genetic or genomic studies. The IRB should determine the appropriateness of the recruitment plan and decisions about the timing of informed consent for family members.

Although deceased individuals are not considered to be research subjects under the Common Rule, there are consent-relevant considerations related to the ongoing use of samples and data from deceased participants. Because the Health Insurance Portability and Accountability Act (HIPAA) protects confidentiality for 50 years after death, use of a deceased individual's identifiable data for research would require next-of-kin authorization for any information covered by HIPAA. The results of post-mortem genomics research analyses may be clinically relevant to surviving family members, raising questions about whether those family members should be informed that the research on their deceased relative's samples, genomic data, and health information is ongoing, whether they should be informed of these results, and when an individual's confidentiality should be protected after his or her death. If appropriate to the study, recruited participants can be asked explicitly at the time of informed consent whether, and with whom, their post-mortem results of clinical relevance should be shared, and any authorization to disclose protected health information should be documented according to HIPAA requirements.

Identifiable populations, which include specific racial or ethnic groups, geographically defined communities, and members of ultra-rare disease groups, present particular concerns with regard to privacy, stigmatization, and discrimination. Researchers recruiting members of such groups should strive to understand and mitigate potential group risks, and communicate about such risks during the consent process, particularly regarding how groups will be identified when summary-level results are disseminated. It is also possible that members of populations that may be vulnerable to such risks nevertheless place high value on research progress and hence might agree to participate with the expectation of eventual benefit to individuals who share their group affiliation. Researchers may consider offering tiered consent options that limit some prospective sample or data uses (see Broad Versus Specific Consent). Researchers should also explain what will happen to stored samples or data when the study ends, participants withdraw from the study or the repository closes (see Data and sample sharing through data repositories and biobanks and Withdrawal from Research).

Potential participants should be made aware of (1) individual risks they might face because they are part of an identifiable population, and (2) potential risks to an identifiable population to which they belong. There is evidence that some individuals base, in part, decisions about their participation in genomics research on assessments of the risks and benefits of a given study for racial and ethnic groups with which they identify. This suggests that it is appropriate to incorporate discussions about the effect of genomics research on group risks and benefits in the consent process.

When appropriate, researchers should work directly with members of identifiable populations before research commences and throughout the research study to help inform the study design and the informed consent process. Some communities may require the research to obtain community approval before seeking consent from potential participants. For example, the Indian Health Service (IHS) approval process requires formal, written approval by the tribal government(s) before even submitting any documents to IHS and tribal IRBs. The NIH Genomic Data Sharing Policy recognizes the importance of giving consideration to group or population risks, and of ensuring that data submission is consistent with local laws and policies, including any