Genetic Testing: Perils of Cracking the Code

By Susan Weiner

From the Spring '96 issue of Hopes & Dreams, newsletter of the Illinois Chapter, Huntington's Disease Society of America.

Copied from 12/05/95 Chicago Tribune

My friend is as close to me as breathing. She is like the sister I always wanted but never had. In that biological distinction lies a world of difference, one that is unbridgeable by affection or experience. I cannot walk in her shoes because they may not be the right fit, not even for her.

My friend is a professional high achiever, but she does not have it all. Unmarried, although she has loved, childless, although she adores children, she chooses to remain alone because the alternative would break her heart more than loneliness. Why? She may have inherited a genetic disease that could impact generations to come.

It is now possible for her to learn her mysterious fate. A genetic test has been developed that can tell her what she wants to know. Yet she is not sure she wants to know. Enduring the dark has its bright spots. Would enlightenment, without treatment or cure, overshadow life?

In her extremity, my friend is only representative of increasing numbers of Americans who may be at risk for something. The Human Genome Project, a federally funded effort begun in the mid-1980s to map every human gene, is starting to reveal information for which our society is not prepared. In just the past year, genes have been discovered that indicate varying predispositions to breast, uterine, ovarian and colon cancer, as well as osteoporosis. Insights into the genetics of Alzheimer's disease and Huntington's disease add even more potential patients to a lengthening list of pain and suffering. By telling us whether we will die young of an untreatable illness, genetic information may be hazardous to our health.

No one would disagree that the benefits of genetic knowledge already outweigh the costs. Before genetic testing, at-risk individuals could have no definite information about their fate. While many were able to live with uncertainty, others had difficulty. Everything from marriage to money is riddled with indecision when you know your death by name, but do not know if it has your name on it.

In some ways, knowing is preferable to doubting. Even sad knowledge can steady a worried heart. Life choices are better made in awareness than evasion.

Therefore, research must go forward. The opportunities and challenges that the new genetics present for understanding the causes of disease and developing new treatments and prevention necessitate its continuation. For that to happen, people must be protected from abuse and discrimination. Morality and medicine must meet.

For instance, no one has adequately dealth with the psychological implications of transmitting knowledge formed in fright. How will affected individuals bear their affliction? What about their loved ones? And who will tell their children? Will parents love a sick child as much as a healthy one? How will children be able to depend upon a parent when they know, in the near future, he or she will, not might, weaken and die?

More practical matters are no less complicated. Will our society grant equal opportunities to those whose lives, however brilliant, will be brief? Will universities and professional schools invest in those with a limited future? What about corporate America? A shortened life span fits downsizing, but not employer insurance plans. Health care, already a conundrum, will slouch towards pandemonium when faced with an influx of genetically marked men and women.

The perils of genetic testing are as great as its possibilities. Adding to the confusion is the fact that not all genetic diseases are alike. Some come later in life and some never come at all. Nor are all genetic tests error-free. That is why ethical guidelines must be established. Testing should only be voluntary. If chosen, psychological counseling should be available and all information must remain confidential. There is already entirely too much access to supposedly private medical histories; these ultimate inside stories should be especially protected. Most significantly, there should be no punitive consequences to any choice or outcome. Here is a situation in which medicine can attain the status of art: Do no harm, particularly when you can do no good.

I often tell my friend that we are all in the same boat by virtue of sharing the human condition. We will meet the same end, relatively speaking. She reminds me that sometimes it depends on your relatives. Many people must navigate in unchartered waters. Until the mapping of this unknown realm is complete, those destined to swim in it should be given the widest possible latitude, for who among us can be certain of remaining ashore.

Susan Weiner is a freelance writer from Miami and the author of "Law in Art: Melville's Major Fiction and 19th Century American Law."

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Last updated: Dec. 1, 2010