pinpointed the faulty gene. "However," she continued, "if I am diagnosed with tuberous sclerosis clinically because I have had an MRI of my brain, an echocardiogram of my heart, and I have had a skin exam, then that information is in my medical record. And the words 'tuberous sclerosis' written in my medical record are genetic information. So, with respect to laws being proposed to separate genetic information from medical information, in many cases that is impossible, without going back and erasing the words 'tuberous sclerosis' out of my medical record wherever they appear." In short, much of the standard information in medical records is actually genetic in nature, although little of it today actually derives from genetic testing.

At first glance, it might seem possible to guarantee privacy for only that information which comes directly from testing a person's DNA and leave other medical details, even those with genetic implications, alone. But that too is impractical, for a different reason.

As researchers learn more and more about the genetic contributions to disease, that knowledge will become an increasingly important part of treating disease. For example, Edward Penhoet of the Chiron Corporation in Emeryville, California, spoke of "the progress which is being made in identifying tumors very carefully from a genetic point of view so that when we treat the tumors we will have the maximum amount of knowledge available to us for that treatment." A doctor might know, for instance, that breast tumors in women with one particular genetic mutation would shrink rapidly when exposed to Drug X, while tumors in women with a second mutation would shrug off Drug X but respond well to Drug Y. Thus the results of the genetic test would need to be an integral part of the medical record.

"The more information the better if you are trying to treat an individual patient," Penhoet said, "but it seems to me that we are spending a lot of time creating barriers to the truly valuable aspects of this which will come in the near term when we are able to describe each person in much greater detail and therefore customize treatment to individual people in a way that makes treatment much more effective for a variety of different diseases." Regulations that wall off a certain amount of information in the name of genetic privacy would "compromise our ability to address the truly more important issue, which is how you use all this information to develop medical treatments which are much more specific, much more targeted, and therefore much more effective."

More generally, Korn said, the urge to create a right to genetic privacy betrays a lack of understanding of how the American system of health care and biomedical research operates. "I think of the system as one in which there is a set of overlapping, interlocking activities among which there has got to be a very low impedance flow of information in order for the system to work." Anything that blocks that flow of information, such as strict regulations regarding the use of human genetic data, will inevitably hurt the effectiveness of both research and medical care, he said. "I think people don't understand the degree to which both



The National Academies | 500 Fifth St. N.W. | Washington, D.C. 20001
Copyright © National Academy of Sciences. All rights reserved.
Terms of Use and Privacy Statement