Do You Really Want to Know if You Have a Disease Gene?

This is an op-ed column that appeared in "USA Today," for which I am a regular contributor, on April 27, 1998.

by Robin Marantz Henig

The story is told of a psychology professor who used to begin his lectures by handing out an envelope to every student. "Inside youíll find a number," he would say. "That number is how old you will be when you die." He then gave his students the option of opening the envelopes that held their supposed fates. Even though the exercise was pure fantasy, the majority still kept their envelopes sealed up tight.

Now we can be much more precise in our forecasts. We can find out, for the cost of little more than a few ounces of blood, whether we carry the genes that place us at risk for breast cancer, colon cancer, Alzheimerís disease, or Huntingtonís disease. But how many of us really want to know?

Headlines announce the discovery of a new disease gene almost every month, and the Human Genome Project continues on its merry way toward mapping every gene in the body. It is not too far-fetched to imagine that, within the next decade, obtaining a complete genetic profile will be as easy as finding out your HDL cholesterol level. That is why we must, as a society, begin to make decisions about the risks and benefits of genetic information.

To test or not to test? Itís never quite that easy, as my own family situation makes clear. I myself am at risk for a genetic disease called polycystic kidney disease. My father died of PKD two years ago, when he was 76, and because the gene is dominant I run a 50-50 chance of inheriting it. I can take a blood test to see if I carry the gene most commonly associated with PKD, or I can have a sonogram to see if my kidneys look diseased. But I have done neither.

Itís weird that I, a medical journalist committed to the idea that knowledge is always better than ignorance, have chosen to remain ignorant about my own genetic status. But if I have PKD, thereís not much I can do about it. There is no drug or diet that keeps PKD from progressing, eventually, to kidney failure. Nor is there any way of knowing whether that progression would end relatively early, in my 40s, or relatively late, in my 80s, when I might already have died of something else. And since I had my children before I even knew PKD ran in the family, no childbearing decisions remain for me based on whether I do or do not carry a damaged gene.

In addition, knowing about my PKD status might, under the current system, make me uninsurable. Not only would my knowledge turn PKD into a "pre-existing condition" Ė as it would not be if I didnít know about it Ė for health insurance, but it would make it virtually impossible to find the kind of life insurance and disability insurance I would need. And I might become not only uninsurable but unemployable, too, if a new employer were to decide I was unlikely to offer a good return on his training investment.

Seems simple, right? Just decide not to know. But hereís the rub: my daughter does want to know whether she carries the PKD gene. And since she just passed her 18th birthday, she is free to find out. Hers is a different situation: she is now making plans for the rest of her life, and she wants her decisions to be as informed as possible. She is entitled to that choice, and the matter is really one that should be entirely between her and her physician.

Except for one thing. If my daughter did get tested, and did have the PKD gene, then I would by default have found out something I had already decided I did not want to know: that I had the gene, too, since the only way she could have gotten it was from me.

Our own little family saga is played out thousands of times a day at genetic counseling clinics and doctorsí offices across the country. Each of us carries at least a few damaged genes. Usually, unlike the PKD gene, bad genes are recessive, meaning we usually donít find out we have them unless they cause problems in our children. But once genetic testing becomes widespread, we will all be able to learn our own secret weaknesses. And sometimes, as would happen to me if my daughter tested positive, we will learn about them against our will.

In May, Vermont will hold the first of a series of town meetings throughout the state to discuss the ethical, legal, and societal implications of such potent knowledge. Who wants to know their own genetic destiny? Who will be forced to know? Who besides the individuals involved will be permitted to know? Vermont is the first state in the nation to address these questions in a formal way, bringing into the discussion not only scientists and physicians but also insurers, legislators, teachers, social workers, business leaders, the media, the clergy, and ordinary citizens.

"The good news is that the real impact of the new genetics is yet to be felt, so we have time to prepare," says Alan Guttmacher of the University of Vermont, director of the new Community Genetics and Ethics Project . "The sobering news is that it may not be very much time."

We may have only a couple of years to develop ways to control and facilitate the dissemination of information about our own genetic destinies. We need to get to it right away. Because in the meantime, decisions about testing are being made every day, across the country, the way they are being made in my own family: one faltering, fallible step at a time.