I served for five years on a hospital-based Institutional Review Board (IRB) that was responsible for protecting the rights of human subjects involved in clinical research studies (see: Institutional review board). One of the most perplexing issues that IRBs and researchers are now facing is what information acquired as part of a research study to share with research subjects enrolled in the studies. This topic was addressed in a recent NYT article (see: Genes Now Tell Doctors Secrets They Can’t Utter). Below is an excerpt from it:
In laboratories around the world, genetic researchers using tools that are ever more sophisticated to peer into the DNA of cells are increasingly finding things they were not looking for, including information that could make a big difference to an anonymous donor. The question of how, when and whether to return genetic results to study subjects or their families “is one of the thorniest current challenges in clinical research,” said Dr. Francis Collins, the director of the National Institutes of Health....The federal government is hurrying to develop policy options. It has made the issue a priority, holding meetings and workshops and spending millions of dollars on research on how to deal with questions unique to this new genomics era. The quandaries arise from the conditions that medical research studies typically set out. Volunteers usually sign forms saying that they agree only to provide tissue samples, and that they will not be contacted. Only now have some studies started asking the participants whether they want to be contacted, but that leads to more questions: What sort of information should they get? What if the person dies before the study is completed? The complications are procedural as well as ethical. Often, the research labs that make the surprise discoveries are not certified to provide clinical information to patients. The consent forms the patients signed were approved by ethics boards, which would have to approve any changes to the agreements — if the patients could even be found. Sometimes the findings indicate that unexpected treatments might help. In a newly published federal study of 224 gene sequences of colon cancers, for example, researchers found genetic changes in 5 percent that were the same as changes in breast cancer patients whose prognosis is drastically improved with a drug, Herceptin. About 15 percent had a particular gene mutation that is common in melanoma. Once again, there is a drug, approved for melanoma, that might help. But under the rules of the study, none of the research subjects could ever know. Other times the findings indicate that the study subjects or their relatives who might have the same genes are at risk for diseases they had not considered.
In my mind, one of the key issues here is that subjects are unselfishly participating in clinical research projects the findings of which will help many others. It should be added in this context that patients with advanced stages of diseases often enter studies with the hope that an experimental drug(s) used in the study may help them. Nevertheless, patient subjects agree to the burden of additional physician visits, more imaging studies, and the taking of additional blood and tissue samples to support the goals of the study.
My primary goal when participating in my hospital IRB was to protect the rights of subjects in any way possible. As noted above, this goal is getting more complicated in this era of genomics. Genomic information acquired during the course of research studies may have great relevance for the subjects. For example, it may be discovered that a subject, and perhaps his or her blood relatives, may be genetically predisposed to certain types of cancers. Armed with this information, they subject would be better prepared to deal with this risk. The historical nature of these research studies, however, is that there is no obligation on the part of the primary investigators to share any of this research data with patient subjects.
Here's just a few of the problems associated with a data-sharing scenario if it were to be pursued or even required. First, the identify of the subjects is hidden from the investigators to avoid study bias. How can the subject be legitimately and ethically informed about the results, sometimes years after the beginning of the study? Secondly, the research team members are not trained to counsel subjects about complex clinical issues such as as a genetic predisposition to cancer. How is this best accomplished? Often the research labs performing the genetic testing are not CLIA certified. Data generated by them do not have the same standing as the results of CLIA labs but this is not to say that they are wrong or incorrect. Finally, often the research underlying the genetic information that would be supplied to research subjects is not rock-solid, which is to say that it may be early data not supported by multiple clinical studies.