The best gift for the holiday season would be a guarantee of a long, happy,
healthy life. For most, the second best gift would be to have some say in how we will age, what diseases will afflict us, and above all, how we will die.
When I was a kid, thinking about existential despair had a certain natural elegance. After all, it produced the art of Camus, Edward Hopper, film noir and Ingmar Bergman. But times have changed. Can you imagine anyone nowadays having a serious discussion about Bergman's "The Seventh Seal"?
Having been seduced by biotech's tantalizing promise of eventual control over disease, our fears have shifted from the metaphysical to the physical.
Sickness unto death no longer is a metaphor, but a description of what is to be avoided at all cost. We are now preoccupied with preventive medicine and advance warnings, perpetually hypervigilant in the hope of deterring the inevitable.
But technology has thrown down the ultimate philosophical gauntlet -- genetic testing. Do we really want to know what lies ahead? (This month, the journal Nature announced the first complete genetic sequencing of a human chromosome. Present estimates indicate that the complete human genomic sequence will be finished, in rough draft form, in less than a year).
Let's consider the consequences of having this knowledge about our genetic structure. Imagine being a child of singer-songwriter Woody Guthrie and watching your charming, witty, father forget his own lyrics, stumble over his guitar strings, have sporadic outbursts of irrational behavior, gradually lose his coordination and his mind. You watch him struggle for 15 years,
his personality slipping away until he eventually dies in a back ward in the
Brooklyn State Hospital. You remember watching the same scenario unfold with your grandmother. Then your two sisters are affected.
You consult with the doctor; he tells you that your family illness is
Huntington's Disease (HD). If one of your parents has it, you have a 50-50 chance of getting it. But, she adds, "There is now specific genetic testing. If you're positive, you'll get the disease, though I can't say when. (HD can begin anytime from infancy to old age.) If you're negative, you won't get it and you can't give it to your children."
So, do you get the test?
(I have chosen to discuss HD rather than other familial disorders because it
is the first major disease to have essentially 100 percent predictability and where family members at risk have been extensively studied psychologically. But it is a matter of time before such considerations will apply to many diseases, from familial Alzheimer's to a variety of cancers to schizophrenia and bipolar disorders. HD is a window onto our genetic medical futures. There are an estimated 30,000 Americans with HD and another 150,000 at risk.)
As a neurologist I have been consulted by family members at risk for HD,
but effective counseling requires knowing what you'd do in similar circumstances, and my advice varies according to my mood. When feeling brave, I think I'd get the test; when I'm anxious, I tend to stick my head in the sand. But once the lab test requisition slip is out of the drawer, there's no going back. I give lectures on medical ethics, but this isn't primarily about ethics. The issues are far too complicated to reduce to algorithm and logical priorities.
Everyone is aware of the usual concerns with genetic testing -- whether or not to get married, have a family, how to live under the shadow of a premature death. We readily talk of Big Brother and whether having positive genetic testing will affect our ability to get health insurance, even be
employed. Politicians debate changing reporting laws. But we seldom hear of
the real issue -- how such testing affects the very hearts of those involved. Dire genetic predictions are more than death sentences sometime down the road. For many, the disease begins with the thought of the diagnosis, not with the first symptom.
Let's listen to what some patients at risk for HD have to say. They are
are the best teachers; the sidewalk philosophers for the next millennium. For a real jolt of pure dread, substitute in the diseases that run in your family. These quotes are from a chapter on Huntington's Disease in an out-of-print book called "Genetic Counseling: Psychological Dimensions" from Academic Press (1979):
"It's an awful thing to look at your kids and wonder if some day they're
going to look at you like some kind of monster . . . I guess, the thing I feel bad about on my part, the part I really dread, is having boyfriends see
[my mother], 'cause I am very open about what it is and the fact that it's
genetic and everything. And I think, wow, if they see how bad it is, it's just gonna be, 'Forget it, baby.'"
"The fact that hit me the most -- I used to cry whenever I looked at my son.
I was afraid. Like, I was scared. I remember a real bad emptiness in my heart."
"But I think really, the thing that really scares me the most is I know,
despite all my determination to hold myself together and be a pleasant person to be around, I fear that having the disease will make me lose that control and I'll turn into a shrew like my mother. And that will be what will
alienate me from people. And that will be against my control, even though I won't want to do it. Like I see she does things that she doesn't want to do, but she can't help herself."
"It seems that so many things have gone bad in my life that with this HD
thing, well, it almost seems like I must have done something wrong somewhere to deserve all this."
"Maybe you should be dead. You'd probably be so far gone that it would be
better to be dead. It's hard to say. For myself, when I'm 35 years old it could happen then. Now I'm 24 and maybe I've only got 10 more Christmases to have good times in. Maybe I shouldn't feel that way. I might be 60 like my other aunt. I sometimes wonder what families are like that never
Got the picture? Having your future played out in front of you may be the
ultimate nightmare. The unstated sadness of genetic disease is how the dread permeates the entire family. Everyone's self-image is at stake. If you get the disease, it is somehow your fault. If you transmit the gene to
your children, you are a monster.
Think of proud parents peering through the nursery window at their newborn. "Why, she looks just like you. No, she's got your nose, Nana's eyes." We hate to admit it, but one of our greatest sources of pride is our genes. (As long as they seem to be good genes, like intelligence, blue eyes, nice ankles or athletic ability.)
But when the genes go sour, the reverse is true. Talk to a mother who has had breast cancer -- she lives in dread of her daughters getting it, and they cannot help feeling ambivalent toward someone who may give them a death gene. We might act with compassion, but in the middle of the darkest night it's not possible to avoid such thoughts. Genetic diseases undermine normal
relationships, strain the best, fracture those less stable.
But it will be through discovering the genetic basis of many diseases that
they will be conquered, cured or controlled. Genetics is a two-edged sword. We must know in order to find and treat, while accepting the dreadful psychological effects present during the inevitable lag period between discovery of the gene and precise discovery of its function and how to control wayward
Fortunately, many illnesses represent multiple genetic defects, making
predictions more difficult. And others are clearly a combination of genes and environment -- such as coronary artery disease, which is clearly a combination of genes, cigarettes and things like steaks.
As long as medical predictions are based upon large-scale demographic
studies or give only relative risks rather than being specific to the individual (as in HD), we can kid ourselves, live with chronic denial, maintain the comforting thought that "it will be the other guy, not me."
Let's take an average family history. One uncle committed suicide, one aunt was alcoholic, a grandfather dropped dead at a young age, another was divorced six times and took up skydiving at 70, a grandmother went blind at 80, another became senile. Without genetic testing we shrug off such a history, say to ourselves that we're somehow different. But, when the
predictions become more accurate, when actuarial tables can combine DNA
readings with environmental risk factors, how will we respond? (It is estimated that every person has from five to 10 genetic defects).
I leave you with the words of a 25-year-old woman who tested
positive for HD. "There are times when I think about it but not when I'm dancing. I think that I love to dance so much. I dance every day -- I just dance. I think about this -- what am I going to do when I do get it?
Because I really love to dance. I love to just be moving around. I've just
kind of felt that I've got to get it all out of my system. If I can just
dance now while I can and try everything I want to try."
Follow this woman's advice. Get out and dance. Satchel Paige once said, "Don't look back. They may be gaining on you." Maybe he should have added, "Don't look forward either." And Satchel remained a great player for a long time.