摘要：The National Institutes of Health and other federal health agencies are considering establishing a national biobank to study the roles of genes and environment in health. We assessed the public's attitudes toward the proposed biobank, including preferences for providing informed consent. Sixteen focus groups were conducted, and themes arising from the focus groups were tested in a large, representative survey (n = 4659) of the general population. Our research demonstrates that when considering participating in a genomic biobank, individuals want ongoing choices and control over access to their samples and information. INFORMED CONSENT IS THE cornerstone of ethical conduct in human subjects research. 1 – 5 This concept is highlighted in a 2001 report of the National Bioethics Advisory Commission, according to which engaging in the consent process is “one of the best ways researchers can demonstrate their concern and respect for those who enroll in a study.” 1 The emergence of biobanks, large collections of biological samples to be used for research purposes, has challenged traditional notions of how to protect and respect those who provide samples and information. Biobanks compile heath, environment, and lifestyle information and collect biological specimens from large numbers of individuals, who are often followed for long periods of time. Biobanks can support an unlimited number of future research studies and provide the vast amount of annotated data necessary to tease apart important contributors to complex diseases. However, the open and evolving nature of genomic biobanks calls into question whether individuals who provide samples and information to a biobank can give truly “informed” consent to participate in a study. 6 Guidelines for the protection of human research subjects are based on the assumption that individuals are participating in a discrete project designed to answer specific questions and not the creation of a tool for an unlimited number of future studies on yet-to-be-determined topics. 6 Unlike clinical research, in which the risks primarily involve physical harm, the risks in biobank research are principally those that may follow from a loss of privacy. 7 Many biobanks ask participants to provide broad or “blanket” consent at enrollment. 8 – 11 This approach has been adopted because requesting consent each time a research project seeks to obtain access to samples or information from a biobank poses financial and logistical barriers to researchers and may be overly burdensome to participants. According to the World Health Organization, “blanket informed consent … is the most efficient and economical approach, avoiding costly re-contact before each new research project.” 4 The UK Human Genetics commission argues that “the difficulties involved in tracing and securing re-consent for different forms of medical research would be … impractical and would seriously limit the usefulness of large scale population databases.” 12 Until 2004, the United States considered coded samples—those in which a code links the sample to a donor—as identifiable because a key must exist linking the code to the donor's sample and information. In research projects involving identifiable information, reconsent would be required before any additional research involving coded samples could be performed. 13 However, in 2004, the US Office for Human Research Protections expanded the definition of nonidentifiable samples to include cases in which a code exists linking the sample to the donor but the link to the code is not available to the investigator using the sample. 5 , 13 Under this new definition, research involving coded samples does not meet the definition of human subjects research under the Common Rule (Federal Policy for the Protection of Human Subjects), and informed consent is not required. However, not all human subjects research requires informed consent. The Common Rule allows institutional review boards to waive the requirement to obtain informed consent if (1) the research involves no more than minimal risk to the participants, (2) the waiver or alteration will not adversely affect the rights and welfare of the participants, (3) the research could not practicably be carried out without the waiver or alteration, and (4) the participants are provided, when appropriate, with additional pertinent information after participation. 13 – 15 Researchers who wish to use previously collected specimens may argue that the process of obtaining informed consent from the original donors cannot be practicably carried out. Currently, many large US population biobanks request broad consent for unlimited future research studies as a condition of enrollment. 9 – 11 Other biobanks do not seek individual consent to participate according to the view that use of deidentified information does not constitute human subjects research. In these cases, consent to participate in the biobank and to authorize unlimited future research studies is presumed unless the individual specifically opts out of the program. 10 , 16 There is a paucity of literature describing public opinion on the type of consent that should be offered to individuals participating in genomic biobanks. In a qualitative interview study of 40 individuals presented with a broad consent template for the Duke Biorepository, 85% of the respondents reported that they would, if asked, allow their blood and information to be stored indefinitely for use in future research. 17 In a 2004 survey of potential tissue donors in Sweden, 48% of donors indicated that being asked for consent for each research project involving collected biobank material would make them feel “respected and involved.” In contrast, 28% believed that such a process would be “a waste of money” or that it would make them feel “worried.” 18 These limited data demonstrate that there is a wide range of opinions about the type of consent that should be offered to biobank participants. We explored the attitudes of US residents toward the creation of a national genomic biobank proposed by the National Institutes of Health and other federal health agencies, including their preferences regarding informed consent to participate in the biobank. 19 – 22 The proposed National Institutes of Health large-cohort study assessing the feasibility of the biobank would recruit 500 000 individuals representative of the US population. Participants in that study would undergo a baseline health examination, donate samples for laboratory testing, and grant researchers access to their medical records. Participants could be asked to monitor their diet, physical activity, and environmental exposures. Data and samples would be coded, and a link to participants would be retained to allow follow-up of health outcomes. Coded study data would be made available to the broader scientific community for analyses of gene–environment interactions.
