CDC Guidelines Address Informed Consent for Genomics Research
Lawrence O. Gostin, J.D., health law and ethics editor of the Journal of the American Medical Association and coauthor of the guidelines, discussed the document during a November 13, 2001, media briefing in Washington, D.C.
"The law, and the bioethics that have traditionally guided research in the United States, has been purposely directed toward clinically relevant studies rather than population-based genetic studies," Gostin said. "There is an absence of careful thinking about how federal regulations and ethical discourse should approach population-based genetic research."
According to the new guidelines, clinical research typically focuses on "manipulation or intervention" to alter the course of a disease. In contrast, population-based genetics research seeks to identify gene variants that may have public health implications but do not bear on an individual patients clinical course.
The informed-consent process for population-based genetics studies must not give the wrong impression about the personal benefits of the research, Gostin said. "We dont want [patients] to be confused into believing that this could be directly clinically relevant to them . . . or some type of magic intervention."
Gostin described himself as "deeply committed" to the principle of informed consent. But he cautioned that "informed consent is really, in many cases, just lawyers trying to avoid liability for the institution." In an attempt to avoid this pitfall, Gostin said, CDC aimed for an informed-consent process that would "fully inform human subjects of the nature of the risks of the study . . . while still facilitating science."
Gostin discussed the ethics of using stored human tissue samples to learn about genes and disease. "In population genetics," he said, "we are able to go back and find out a lot about a human population through the stored human tissue." But, he said, study participants must have consented in advance to such use of their tissue and realize that the research will most likely not benefit them directly.
The new guidelines address patients privacy and security concerns and recommend that informed-consent documents detail the specific measures the researchers will take to ensure a patients privacy. Gostin said ensuring the adequacy of privacy and security safeguards is "critically important" to the informed-consent process. A patient whose personal data are not kept secure could "suffer discrimination in employment and insurance," he said.
CDCs guidelines also take what Gostin described as "a departure from current regulatory and ethical standards" for disclosure of a patients test results.
"At the moment, the common rule and ethical standard . . . always insists that the individual patient or subject be informed of the results of the study," Gostin said. But population-based studies, which Gostin said may involve "many tens of thousands of people," are unlikely to have "any particular clinical relevance to that particular individual." Thus, Gostin said, the guidelines advise against such disclosure in most cases.
"Disclosure of information to an individual would only take place if . . . the data had significant relevance to the health of the human subject and . . . there would be some clinical benefit that the human would derive form it," Gostin said.
"This may be the single most important reason for the CDC guidelines," he noted.
- Beskow LM, Burke W, Merz JF. Informed consent for population-based research involving genetics. JAMA. 2001; 286:2315-21.