Genes Tell Only Part of the Story

by jeeg 17. February 2015 22:24

 

I had intended to discuss President Obama’s plans for personalized precision medicine with my patient Barbara last week, but she missed her appointment. Or, more accurately, she arrived two hours late, made the usual giant fuss at the reception desk and had to be rescheduled.

I was disappointed. Barbara has some insight into the vortex of her own complications, and I thought she might help organize my thoughts.

Mr. Obama announced last month that his new budget included $215 million toward the creation of a national databank of medical information, intended to associate specific gene patterns with various diseases and to predict what genetic, lifestyle and environmental factors correlate with successful treatment. Once all those relationships are clarified, the path will open to drugs or other interventions that firm up the good links and interrupt the bad ones.

This step up the scientific ladder of medicine has many advocates. Researchers who sequence the genome are enthusiastic, as are those with a financial interest in the technology. Also celebrating are doctors and patients in the cancer community, where genetic data already informs some treatment choices and where the initial thrust of the initiative and much of its funding will be directed.

Skeptics point out that genetic medicine, for all its promise, has delivered relatively few clinical benefits. And straightforward analyses of lifestyle and environment effects on health may occasionally lead to clear-cut advice (don’t smoke), but more often sow confusion, as anyone curious about the best way to lose weight or the optimal quantity of dietary salt knows.

Without Barbara’s presence, I was left to ponder her medical record, a 20-year saga that might be titled “Genes, Lifestyle and Environment.” and published as a cautionary tale.

Which chapter came first? Was it the genetic predilection for alcohol that created her lifestyle (pure chaos) and environment (streets, shelters, hotels)? Or did the story start at another point in the cycle, with alcohol selected as a comforting longtime companion, then taking over?

Either way, Barbara’s medical problems are predictable spokes on the wheel: bad heart, terrible liver, crumbling hips, gummed up lungs, AIDS from a brief foray into injectable drugs.

Sober Barbara is smart, analytical, full of plans. (“Gotta stop drinking.”). Drunk Barbara is impossible. We usually catch her somewhere in between, full of incompletely articulated thoughts, dipping erratically into her medications, promising reform. And yet she survives through years and decades without it.

How will the president’s hundreds of millions of dollars, presumably the first installment of billions to come, help patients like her?

Barbara has obvious genetic predispositions, like most patients, but not inherited diseases like cystic fibrosis or genetic signatures on tumor cells. Those alcoholism genes are unquestionably going to turn out to be subtle troublemakers, the kind that nudge people in the wrong direction, raising risk but not sealing doom.

Furthermore, the influence of Barbara’s lifestyle and environment on her medical conditions doesn’t require a giant database or a powerful computer to interpret. Mr. Obama’s data crunching and Barbara’s own analysis are bound to concur: “Gotta find a place to live, gotta make new friends, gotta take my meds.”

The big challenge, then, will be interrupting the cycle. No alternatives seem all that promising. A magic bullet in pill form? Just because a medication is promoted as lifesaving doesn’t mean Barbara is going to take it, whether it targets bad diseases or bad genes. She already treats her H.I.V. and heart medications with immense disrespect. She has also, incidentally, rejected the drug that makes alcohol too nauseating to drink, bristling at the very idea of such a crutch. (“Gotta do it myself.”)

Could the federal money be better spent on her other needs, like supportive housing with on-site counselors and addiction services? Barbara has already bombed through a handful of places structured exactly like that. An infusion of the cash itself might have been helpful years ago; now it would go directly to the liquor store.

So there she is, insoluble Barbara, the perfect storm of biosocial cause and medical effect, tethered to her path with a momentum born of long habit and a dearth of alternatives. She may be an extreme example, but I suspect most chronic disease puzzles will turn out more like hers than the fix-a-gene, save-a-life sequence the precisionists envision.

Announcing his initiative, Mr. Obama specifically celebrated a future in which one’s genes would no longer spell one’s medical destiny. But genes are seldom the whole story behind illness and are possibly not even the sternest of the medical fates that control us. Perhaps some of the others, like environment and lifestyle, will someday, somehow be corralled as well.

Then we will be down to willpower, money and luck, the harshest and least tractable of the lot.

Abigail Zuger , New York Times

 

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