Genetics Points to Consider When Planning a Genetic Study
Points to Consider When Planning a Genetic Study
The National Institutes of Health supports a broad range of genetic research aimed at improving the diagnosis, treatment, and prevention of many human illnesses. This research is designed to understand normal genetic processes, the consequences of genetic errors in those processes, genomic structure and function, the effects of genetic variation and the environment on the development of disease, and the effects of interventions on the disease process. Genetic research employs many different approaches, including observational studies, epidemiological studies, collection of biological samples for analysis or storage, and clinical trials. NIH-supported genetic research has already yielded important insights into diagnosing and treating several hereditary diseases and conditions.
While the potential benefits of genetic research may seem obvious to the scientific community, it is important for researchers to realize that non-scientists may not be aware of these benefits. Furthermore, individuals and the communities to which they belong may fear that participating in genetic studies involving named populations may end up stereotyping that particular named population, potentially putting the entire community at risk of discrimination by insurers or other third parties. By being open with communities about the goals and process of their research before it is conducted, scientists can better design studies to yield meaningful data while working within distinct social and cultural contexts. By sharing results with a community after a study has been completed, research participants are more likely to know what to do to seek treatment or how to implement preventive measures to improve their health. In general, well-informed communities, which have a window into the research process, are likely to maintain a more positive attitude about scientific research--not only about how research is conducted but about what great benefits science can offer for humankind.
Important safeguards such as the Regulations for the Protection of Human Subjects (45 CFR 46), implemented through Institutional Review Boards (IRBs) and the informed consent process, protect individuals who participate in genetic research studies. (See http://www.hhs.gov/ohrp/humansubjects/guidance/45cfr46.htm). Researchers' adherence to these Federal mandates is high. Taking into account the cultural context of populations of interest for genetic studies can enhance participation in population-based genetic research, a scientific endeavor poised to improve human health through the development of diagnostics and therapies.
Community consultation takes many forms, and researchers consult communities in many ways. NIH has a longstanding and productive experience in establishing dialogues with communities that participate in research studies. Whether the research project involves genetics, epidemiology, or clinical trials, many investigators find that community consultation is a helpful tool for blending good science, protection of participants, and public health needs. The process is mutually beneficial to researchers and community members who are potential study participants.
Many researchers hold open houses in a community setting to explain their research project and to inform potential participants about the possible risks and benefits of participation in the study. Such a forum also invites participants to ask questions about things they don't understand. With these new insights, researchers can then do a better job of fully informing participants in lay language about the benefits and risks of participating in their study, as well as indicate what protections are already in place to guard against foreseeable risks. This open exchange with the community can identify and correct needless barriers to recruitment and retention, as well as align expectations about what a participant is later told of his or her clinical findings or of the overall research results.
NIH supports and encourages community consultation in many research areas and believes that investigators planning genetic research projects involving members of named populations should consider whether and how the community should be consulted. Ideally, investigators should initiate discussions with communities as early as possible in the course of their proposed research, although the dialogue can and should continue throughout the research project. Genetics researchers may wish to seek the advice of investigators from other fields who have more experience with conducting community consultations.
How is a community defined? Characteristics such as biological relatedness, geographic dispersion, social interactions, cultural values, and past experiences can all impact the nature of the potential benefits and risks associated with participating in genetic research. Because there is great diversity in the kinds of genetic research projects as well as in the types of affected communities, NIH recognizes that it is not possible to provide specific guidelines for community consultation. Rather, this document provides guidance to help investigators decide whether they should consult community members in planning and carrying out their research. Where possible, practical approaches that are likely to be helpful have been provided.
No two research projects are alike, and decisions about conducting a community consultation in connection with a research project are best made on a case-by-case basis. Investigators should consider the following points in making their decisions:
No. NIH does not require researchers to conduct consultations with communities. NIH recognizes that researchers in some scientific areas, such as genetics, are just beginning to work with named populations. Thus, the concept of community consultation may be new to researchers in this area. This document has been prepared to help inform the scientific community that such efforts can be helpful to all parties involved in the research.
Not necessarily. The review criteria for NIH research applications have not changed. NIH does not require consultations with communities. However, community consultation is already the norm in some scientific areas, such as the social sciences.
There are no laws or regulations that explicitly govern the conduct of genetic research involving members of a named population. However, Native American and Alaskan Native tribal governments have legal jurisdiction to govern and regulate activities that occur within the geographical boundaries of their territory. This authority of tribal governments, which predates the U.S. Constitution, has been recognized by the U.S. Supreme Court, Congress, and the Executive Branch. Research involving members of the tribe living within the tribe's territory is considered to be an activity over which the tribe has jurisdiction. Therefore, investigators must obtain approval from the government of the tribe (e.g., its tribal council) and from any applicable IRB that serves the tribe in order to conduct such research. A Native American tribe is treated as a sovereign Nation, and the same is true for Alaska Native tribal governments. Since 1968 it has been the policy of the Federal Indian Health Service not to authorize any research involving a tribe unless the tribal government approves the proposed research in its community.
No. Community consultation is not a required part of the IRB approval process, although IRBs often consider the implications of the research project on the participants' community. Community consultation is a vehicle for hearing about the community's interests and concerns, addressing ethical issues, and communicating information about the research to the community.
Informed consent is a process required by Federal regulations that pertains to individuals who are considered human subjects in research. The informed consent process must occur before subjects begin participation in a research project. The content and process of informed consent is carefully stipulated by relevant regulations and monitored by IRBs and other entities that form a web of protection for human research subjects. Community consultation pertains to the population from which the subjects are recruited and is a process not expressly required by Federal regulations. Community consultations are often informal activities. While the information provided in a community consultation may be similar to that provided in the informed consent process, the goals of these two activities may be very different.
Initiating a dialogue with a community makes sense. The community consultation process promotes the two-way communication between investigators and the community. Investigators can inform the community about the research and its outcomes, and the community can tell investigators about their interests and concerns. The more the public knows about the process of scientific research, the less afraid they will be about asking questions, and the better informed they will be about interpreting results.
By seeking the views and input of community members, consultations before, during, or after a research project show respect for the participants. Community members benefit from learning about the study and by understanding the scientific questions it seeks to answer, improving public scientific literacy. The consultation may also help to identify pitfalls in the design or plan for a study, which may improve the study's ability to address issues of importance to the community. As partners in, rather than simply as subjects of, the research activity, this process increases the likelihood that community members will feel empowered rather than exploited.
There are no guarantees that holding a community consultation will prevent stigmatization and stereotyping of a community on the basis of research findings. However, being available for discussion creates a forum for members to learn what to do with scientific conclusions and how to deal with potential outcomes of the research. Such forums can identify for community members the best places where they can obtain more information about their health.
Yes. Conducting a dialogue with the community may uncover weaknesses in the research plan. For example, the investigator may learn new information about language barriers, beliefs, or concerns that would threaten the feasibility of the research or undermine the validity of measures if they were not considered. A consultation may reveal strategies for more effectively identifying study participants. Community-wide "buy-in" to the goals of the research project may improve the ability to recruit study participants. However, community consultation is not a substitute for careful, systematic preliminary studies that provide the foundation for choosing the study population, developing sampling or recruitment plans, designing protocols and measurement tools, and planning analytic strategies. A wide variety of social science methods and statistical data are available for assessing the characteristics of communities. Investigators must be cautious about relying on anecdotal information gained in the course of community consultation to guide the development of their research plans.
While it is not required by law, talking with communities about research that may impact their health and/or social standing is the respectful thing to do. Failure to consult with the community can erode trust in scientists and in the scientific research enterprise in general, which may affect the ability of investigators to conduct future research with that community or other communities. For example, many African Americans still harbor deep-seated mistrust of genetic research following the experiences of this population with the sickle cell screening programs of the 1970s. These programs were put into place without meaningful discussions with the African American community, resulting in group stigmatization and discrimination in insurance and employment among people carrying the sickle cell trait. Many American Indians and Alaska Natives similarly mistrust genetic research because they perceive that they are subjected to so-called "helicopter research." That is, many community members perceive that investigators "swoop down" without appropriate prior discussion to gather biological samples or conduct other types of research, then leave without providing any benefits or explanation to the study population.
No. NIH Guidelines on the Inclusion of Women and Minorities as Subjects in Clinical Research (http://grants.nih.gov/grants/guide/notice-files/NOT-OD-01-053.html) and the NIH Policy and Guidelines on the Inclusion of Children as Participants in Research Involving Human Subjects (http://grants.nih.gov/grants/guide/notice-files/not98-024.html) do not require community consultation. To recruit and retain subjects in a study, however, investigators are urged "to establish a relationship between the investigator(s) and staff(s) and populations and community(ies) of interest such that mutual benefit is derived for participants in the study." Experience shows that talking with community representatives to plan effective outreach increases the likelihood that the study will be implemented successfully.
NIH-funded research with foreign communities generally requires the same assurances (e.g., human subjects, inclusiveness of women, members of minority groups, and children) as research with U.S. citizens. (See http://odoerdb2.od.nih.gov/gmac/nihgps_2001/part_iib_7.htm for the NIH Grants Policy Statement on Awards to Foreign Institutions, International Organizations, and Domestic Grants with Foreign Components.) Although community consultation is not generally required, establishing a relationship with communities of interest is desirable.
Planning genetic research studies involving communities outside the United States may be particularly suited to community consultation activities due to differences in language, culture, and political climate. Scientists may be much more familiar with the science than with the historical or current political issues affecting how the research is perceived or the potential implications that the research might have on the community. It is important to explore these issues and local laws or other constraints while planning the research. Investigators may contact either the NIH Fogarty International Center or the international office within the sponsoring NIH Institute to request assistance with the appropriate approach to conducting consultations with foreign communities.
No. Community consultation is not the same as consent. In the majority of cases, communities in the United States are not required to give consent or approval for research in which its members participate, nor is it reasonable to attempt to obtain community consent or approval. One exception is research that involves members of American Indian or Alaska Native tribes, which are sovereign nations with defined political organizations. Most tribes have established procedures that require researchers to seek approval to conduct research that involves members of the tribe. Such research requires both the approval of the tribal leadership and review by one of the Indian Health Service's IRBs or by the applicable tribal IRB. For studies conducted outside the United States, researchers are strongly encouraged, in the planning stages of the research, to contact appropriate individuals in the host government to find out about any special requirements for community consent or consultation.
Community consultation can take many forms, and these will vary depending on the political and social structure of the community, the degree to which its members are biologically related, the degree of geographic dispersion, religious and cultural characteristics, and past experiences of community members as research participants. How you conduct your consultation will also depend upon the goals you wish to achieve and the stage in the research at which you wish to consult the community. Useful approaches include informal dialogues with leaders and/or members of the potentially affected community, town meetings, or more focused community forums. For geographically dispersed communities, different strategies may be needed, such as small group meetings or distribution of written information inviting community members to ask questions and provide feedback through calls to telephone hotlines. Some investigators find a combination of approaches to be helpful to assure that members of the community understand the goals and possible outcomes of the proposed research, the potential risks and benefits, and also have an opportunity to ask questions and express their concerns. Contacting investigators with prior experience in conducting consultations may also be helpful.
While any discussions you have with the community you plan to study are likely to be useful to both parties, it is helpful to think about the community consultation process as early as possible in the planning stages of your research. Talking with community members before you submit your grant application and weaving into your proposal any learned insights shows reviewers you thought carefully about the study's design and implementation. As your research proceeds, assembling a formal or informal group of community members may help to keep them informed about the progress of your study. In some cases, investigators have also conducted community consultations after the study has been completed to provide information on results that might impact the community.
There isn't a simple answer to this question, since many types of communities exist. Also keep in mind that any input you get can be useful both to you and to the community. Some research studies focus on very narrow local populations while others target large, heterogeneous, or national populations. The point is to get information to, and input from, any members of the community that may be affected by the study. Community consultations will be most effective when the individuals or organizations consulted represent a broad range of views from the potentially affected community or communities.
For studies that involve a national population, conducting a consultation in a structured environment may not be practical. One factor to consider is whether the populations under study actually function as communities at the national level. For example, are there national organizations focused on the issues of these communities and do these organizations concern themselves with issues relevant to the research? For studies that recruit participants from national samples, solicit input from several national organizations that focus on issues related to specific communities at a national level or from several organizations or individuals with expertise from different regions.
Obtaining input from diverse groups calls for a plan to listen to them to the extent that is possible. Any input will likely be helpful to you and to the potential community participants. You may want to solicit input from each group separately, perhaps through individual meetings with community leaders. However, it is important to note that community leaders and organizations may or may not speak for the entire community.
In circumstances where community consultation is identified as a useful part of a research project, investigators may request funds to support costs for community consultation. All requests must conform to the guidelines of the grant mechanism being used.
For more information about how you can implement community consultation into your research project, contact:
Judith H. Greenberg, Ph.D.
Judith D. Auerbach, Ph.D.
Virginia Cain, Ph.D.
Richard R. Fabsitz, M.A.
Jan Howard, Ph.D.
Morgan N. Jackson, M.D., M.P.H.
Mary S. McCabe, R.N., M.A.
Jean E. McEwen, J.D., Ph.D.
Steven O. Moldin, Ph.D.
Shobha Srinivasan, Ph.D.
Last updated: 02/21/08