A Brief Take on Genetic Screening
History of Current Complaint:
A forty-seven-year-old white male, 6′ 4″, 165 pounds, new to this service, presents with chronic belief that medicine and narrative are inextricably linked. Patient has no history of delusional disorder and claims to be on no present medication.
And then what happened?
From the earliest campfire fable, this question has united hearers and tellers, doctors and patients, readers and writers. And from the earliest diagnostic chart, our need to know What happens next? has slammed up against that classic source of dramatic tension: knowing what’s coming does not shield us from living it.
We humans remember in story, anticipate in story, dream, explain, learn, and love in story. As patients, we grow ill and recover, rally and fade, all experienced as narrative excursions inside wider story frames. So it hardly diminishes the rigorous, empirical, and context-free nature of medical diagnostics to say that medical practice is a narrative art. From taking the history and physical to signing off on the postmortem notes, doctors read, and then help arrange, relevant clinical data into a series of causes and effects that forms a linear, time-driven story. Diagnosis and treatment are sometimes a detective novel, sometimes a domestic drama, sometimes a good old psychological character sketch.
Every decent plot consists of exposition, complication, crisis, and denouement. And those four points on the classic tension graph define three regions under the curve: Aristotle’s old beginning, middle, and end. But as Frank Kermode points out in The Sense of an Ending, to our eternal, private, bodily dismay, we are each born in the middle of things, live in the middle of things, and die in the middle of things. To create a more satisfying story, we do everything in our power to read into the history around us a plot more harmonically tuned to our own. By imagining how things beyond us will end, we give shape to the endless middle that we otherwise inhabit. Life is the act of revising our lives.
So all good writing is rewriting. The art of medicine, too, must be a rewriter’s art. Its chief goal is to open up the patient’s story, to give new plot to possibility and new possibilities to the plot. But a patient’s story about medicine sometimes risks imagining that its job is the elimination of all constraint. In good narrative, constraint is the mother of possibility, not possibility’s opposite. When anything can happen, nothing tends to. It’s only when we begin to consider all the places our own story cannot reach that we find the means to bring it where it needs to go.
At its best, predictive testing seeks to identify those plot complications and constraints that can be resolved in order to free up the patient’s story and move it forward. But this is not always what we patients seek when turning to medical auguries. Something in us wants to read the determined future even as we race to write our alternatives. Today’s genetic tests revive, in a rationalized, high-tech setting, the ancient obsession with divination. The same patient who has little use for such indisputable predictions as regular exercise and good diet will add to the quality of your life may still crave a glimpse of the destiny written in his nucleotide tea leaves. Something in us seeks out ironclad prophecy—the stuff of Birnam Wood and the Ides of March, readings of our pre-inscribed, inescapable fate—if only as the first step in trying to escape it. Some incurable readers stand in bookstores, trying out the last pages of novels before they will plunk down good money for one.
Clinical medicine, then, can leverage its own narrative nature by beginning with an artful reading of what a patient is really seeking, when presented with the possibility of predictive tests. Patients who ask “What do my numbers say?” may really be asking the very different question, “What will these numbers mean to the story I’m writing?” And as for meaning, medicine can have no definitive tests. What happens next is precisely what the doctor and patient together are about to find out.
The arguments for and against genetic tests are themselves part of an unfolding story. Medicine’s powers continue to change rapidly in the run of time. Our roles as characters and as authors of our own lives are undergoing a radical transformation. We live at a dangerous moment, one when the gap between our ability to make a genetic prediction and our ability to alter it is widening precariously. For the present, our clairvoyance remains contingent. The results of a given genetic test may not be valid. When they are valid, they may still tell you nothing more definitive than a probability. When they are definitive, they may cost you your insurance, your job, or your comfort and ease with friends and family. They may plunge you into depression. They may leave you with no way of changing those parts of your plot that may then obsess you. They may blind you to your own continued ability to generate and understand meaning, even in the light of fixed events. The only fully healthy patient may be the one who hasn’t been fully worked up yet.
Then again, tests and screens may save or extend a story. They may lift an impending sentence or indicate a lifesaving prevention or treatment. Everything depends on how well we engage, not with some invariable database of external fact, but with the constantly changing private narrative at stake. The tests we devise and undergo must submit to an act of reading that complements the patient’s continuous act of self-writing. Interpreting a test result is not the same as interpreting a life, but like any twist of plot, it may serve to set in motion no end of useful interpretative developments. This is the key: genetic tests are not about escaping the story; they are about figuring how best to be in it. The story-writing component of medicine, similarly, remains the art of anticipating and identifying constraint, and getting that constraint to be the start of personal possibilities, not their end.
Proust writes: “We guess as we read, we create. So much begins in an initial mistake.”
The patient often comes looking for palmistry. But the physician just as often has no more to offer than an informed weather prediction. Here’s a look at what might happen next. Colder toward winter and as you head north. But as for tomorrow’s temperature: it will fluctuate. Even when the physician can give a more definitive prophecy, the oracle tends to remain majestically sphinxlike until its words are lived through. In a New England Journal of Medicine a few years ago, Bernadine Healy, the former director of the NIH, with regard to routine clinical use of the BRCA1 and 2 mutation tests, invokes “a commonsense rule of medicine: don’t order a test if you lack the facts to know how to interpret the result.”
Even where the results are definitive and the interpretive apparatus is solidly in place, there is still the danger of conflating prediction with explanation. Tests may read the future, but they cannot write it. Plot does not determine meaning; readers do.
The literature of prophecy constantly hinges upon a cautionary trope. The oracle or sibyl or genie will tell you an ironclad answer to the question What will happen to me? But you won’t understand the answer until it comes true. This is the source of power and pleasure in the eternal genre of prophetic drama. How will the fulfillment of the inevitable still manage to deliver one more surprise in the working out? How will an ambiguous prophecy dupe the subject into fulfilling it? Even with foreknowledge, the future remains recalcitrantly the future.
As the world’s oldest writings put it: We live our lives as a tale told, somewhere between our next heartbeat and forever. The act of reading the world is the act of writing ourselves. So, too, with predictive medicine: even when we’ve jumped ahead to skim the pages yet to come, we must still read them in order, in order to say what the story means. Theodore Roethke’s open-ended villanelle refrain makes the point in perfect, multiply parsable pentameter: “I learn by going where I have to go.”
However powerful clinical prediction will still become, it best serves us not in revealing what is to come but in suggesting how our stories have not yet been written. We tell the tales of our lives only by living them. The present’s medical model is predicated on the conviction that our futures need not merely happen to us, that we reserve the right to compose what happens next. But to the extent that it really matters—in the tale’s understanding—such has always been the case, even before the vast increase in medicine’s ability to alter the material plot. For the story lies not in what happens; it lies in what the characters do with what happens. Tests that increase a patient’s ability to write her own life are deeply desirable; tests that decrease the patient’s ability to write her own life are not. Which tests do which depends upon their taker.
It pays to keep in mind that the denouement is not the tying up: the word means, quite literally, “untying.”
In Stuart Dybek’s story Chopin in Winter, a five-year-old white male, sickly and short, presents with severe pneumonia. He asks his doctor if he is dying.
And then what happened?
“Dr. Shtulek… put his stethoscope to my nose and listened. ‘Not yet.’”
This seems to me the great story-advancing, possibility-launching refrain of medical narrative, the thing that we have no choice but to test and to know: “Am I dying?” Yes, but not yet.
And to the question, How long do I have? every genetic prediction ultimately returns some variation on the same answer: Not long. The end will come, but that fact, far from finishing off the meaning of the middle-bound Story So Far, serves to begin it.