Human Subjects
Case 5: Genetic Privacy
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Dr. Allen is a psychiatrist interested in the molecular basis of several different anxiety disorders. Accordingly, she requests institutional review board (IRB) approval to collect blood samples from a large population of both affected and unaffected subjects. The plan is to identify unusual genes that occur in the affected population.

After receiving approval, Dr. Allen enrolls a large number of subjects in her study. The participants, including staff and colleagues from Dr. Allen's medical center, all sign the requisite consent form. Along with many other pieces of information, the form specifically (a) notifies the subjects that they will be told at the end of the study whether or not they carry the genes in question and (b) encourages the subjects to ask any questions they might have. The blood samples are then collected.

In the process of testing and refining methodology, one of Dr. Allen's postdocs runs a "negative control" by screening the samples for the presence of a rare gene he has recently identified in a collaborative project with another laboratory studying breast cancer. Surprisingly, this gene is detected in one of the samples. Evidence to date is that this gene carries a small, but significant, increased likelihood that the carrier will develop any of several different forms of metastatic cancer and an estimated 70% likelihood of developing breast cancer. If this risk were known, chances for long-term survival could be increased by prophylactic mastectomy and frequent check-ups. However, such measures would only reduce--not eliminate--the risk of developing cancer. The postdoc reports these findings to Dr. Allen.

A quick look through the records allows Dr. Allen to identify the carrier of this gene as a clerk working in hospital admissions. Dr. Allen debates whether or not to tell the clerk what has been found.


  1. Should Dr. Allen tell the clerk what has been found?

  2. If yes, then how would you answer the concerns that (1) the clerk would then be worried about an increase in risk, not a certain link; (2) even if the clerk would otherwise develop breast cancer, the prophylactic measures will not guarantee protection; and (3) if given the choice, the clerk may have preferred to not have this information.

  3. If Dr. Allen decides she should not tell the clerk, should she tell anyone?

  4. If the clerk is not to be told, how would you answer the concerns that: (1) the clerk might develop breast cancer and (2) the knowledge that this information had become known, but was not passed on to the clerk, might be discovered at a later date?

  5. Consider the roles of Dr. Allen, the IRB, the postdoc, and the clerk in this case. Given the information provided, have any of them erred by acts of commission or omission?


This case was written for the Internet-based course in Scientific Integrity,taught during the Fall of 1999 at the University of California, San Diego