What is the Future of Diagnostic Medicine?

Jaunts into the future of medicine can take one to the strangest places. I wind up in the Allegheny Mountains of West Virginia, at the stately Greenbrier Resort, which for decades has managed to maintain pristine ratings from the varied likes of AAA and Andrew Harper´s Hideaway Report despite a design aesthetic built around searingly green carpet. The main building is an 803-room mansion that looks a lot like the White House, which is fitting-for 30 years, until 1995, it hid a secret bunker that Congress could use if the Capital came under attack. Even though the resort exists in a state known for its high poverty rate and its starring role in the movie Deliverance, some of this country´s richest people make it their summer retreat. It has three award-winning golf courses, croquet pitches, a mineral-springs spa, and a skeet-shooting range. On the day I arrive, the morning edition of The Greenbrier Today announces a falconry class: â€Learn the history of the sport of kings, and interact with our trained hawks and falcons.â€

I have no time for fun and games, though. I´ve come for a workup at Greenbrier´s world-renowned health clinic, which caters to executives whose corporations have a vested interest in preventing them from suddenly keeling over. Greenbrier has, for instance, a Philips Brilliance CT 16. It is one of the fastest CT devices in the world, capable of scanning the entire body in 30 seconds as well as snapping images of the heart between beats, a method that can detect the presence of tiny bits of plaque that will eventually cause blockages.

But Greenbrier´s brand of personalized medicine predates CT scans. The clinic´s founding principle, in fact, is to catch problems before symptoms arise, which-in addition to using good technology-requires close attention (read: time) from a doctor. That works in a place where patients can sidestep the limitations of managed care by paying for a $950 full-body scan with a credit card rather than a referral. But
it raises questions nobody in personalized medicine has been eager to address: How will people afford medical care under the new paradigm? Will insurers shift payouts from treatments to preventive measures? Or will only the Greenbrier regulars of the world have access to the best that
medical science has to offer?

It´s 8 a.m., and my workup starts with an hourlong chat with one of the clinic´s 10 doctors, a gentle Southerner named Jeffrey Graves. He prods me for my medical history before poking at me in a puke-green examination room. This is where anything resembling a typical physical stops. Graves puts me through a battery of tests that will have me bouncing around the clinic for the better (or worse) part of 10 hours. What´s remarkable about this place, I discover, is that it amasses diagnostic equipment from a vast array of medical specialties under one roof. It´s a hypochondriac´s wonderland.

And so I find myself doing things I´ve never done: I sit encased in a sound reduction chamber as a technician checks for early hearing loss (none!); I get an EKG, a test that people don´t typically get unless they have chest pains (my heart rhythms are normal); I blow into the plastic tube of a spirometer that checks my lung capacity, an indicator of asthma and lung disease (my wind bags are mildly restricted); and I lie on a hard table, staring at â€Got Milk?†stickers on the ceiling, while a low-beam x-ray arm scans my bone density (far lower than average). Thankfully, I´m only 30: In the 20 years until even the most ardent supporters of personalized medicine would suggest I need a colonoscopy, I´m counting on science to find a better approach. (A Canadian medical-device company is developing a test to identify a sugar in rectal mucus that´s associated with colon cancer.)

I have my blood taken three times, to provide enough for tests on my liver and my heart and my lipids. In addition to breaking down my reading into HDL (â€goodâ€) and LDL (â€badâ€) cholesterol, Graves plans to send a blood sample off to Berkeley HeartLab, which a few years ago became one of the country´s first private labs to offer further analysis. Standard cholesterol tests count just the number of cholesterol particles present; they don´t identify their chemical makeup. But Berkeley examines the LDL for the nastiest, most dense particles, which more easily penetrate the artery wall. The presence of these particles increases heart-disease risk threefold.

Between tests, I sip on a quart of toxic-tasting contrast agent to light up my bowels on a computer screen during my full-body CT scan (which, I found out, will dose me with radiation equivalent to taking 100 mammograms back to back).

I ask Graves about the controversy over CT scans, and he says he can see both sides of the debate. He tells me about a healthy patient who had a history of normal stress tests and EKGs-not an obvious candidate for any kind of scan. But when the machine scanned his heart, snapping pictures as it contracted, Graves could see that the patient´s arteries were dangerously calcified. The man could have dropped dead, but instead he got an angioplasty. I am convinced.

A nurse gets me situated on the gantry, which slides my body through the scanner, and inserts an IV with even more contrast agent. I lie perfectly still. I close my eyes. As the table moves back and forth, allowing the camera to take aim at each of my organs, I think, â€Once and for all, I´m really going to know if I´m a dead man.â€It´s the waiting that kills you. I´m slouched in my doctor´s office to get news of my genes. Kimball Genetics, a small lab in Colorado that I ordered several tests from, had sent the results to my primary-care physician, as is its practice. I wait for at least an hour, contemplating a bleak future. What if I do carry
the Tay-Sachs mutation? I mean, I´m Jewish. Jews carry Tay-Sachs. If Megan carries it and we had a child, that child would have a 25 percent chance of developing the disease and dying a horrible death-first going blind, then deaf, and then losing the ability to swallow. What if I carry an ovarian- and breast-cancer mutation that, in men, makes it 12 percent more likely that I´ll get prostate cancer? If I had a daughter, there would be a 50 percent chance she´d get the mutation, putting her at a 54 percent risk for developing ovarian cancer. My god, I think, why did I do this? Do I really want to know this stuff?

I put down my magazine; the sweat on my hands has made the pages damp. The nurse calls me back, and I wait a little longer. My doctor comes in. I ask her for refills of my blood-pressure medicine and Ambien. As she settles onto her stool, she starts flipping through my genetic test results.

â€Well, you don´t carry the Tay-Sachs gene,†she says. â€That´s good.â€

â€OK,†I say, holding my breath.

â€You´re clear on narcolepsy.†I´m not surprised at this one.
She goes on: No periodontal disease. Negative for HLA-B27, a gene associated with inflammatory disorders. Negative for Apo E, a culprit in coronary disease. Suddenly I´m thinking that maybe I got ripped off. â€So are these tests a bunch of crap, or what?â€

â€No,†she says. â€This is good stuff. This is for real.â€

She flips another page and says, â€Oh, now this is interesting.†Apparently I carry one of the two genetic mutations required to develop hemochromatosis, an iron-overload disorder that destroys the liver. But it´s unlikely that I´ll develop the disease without the other gene. Still, my doctor asks me to come back in a few weeks for blood work to see whether I´m retaining too much iron. (It turns out I´m not.)

Several days later I get an e-mail telling me that a genetic test I ordered from DNA Direct is complete and that I can log on to the company´s Web site anytime to view my results. I am negative for thrombophilia, a blood-clotting disorder. I´m relieved. But then I think, â€When is the other shoe going to drop?â€

The next day my cystic-fibrosis results are ready. I log on. Negative. Yes! I mean, excellent! Through DNA Direct, I had also taken the genetic test for the mutation suggestive of prostate cancer. DNA Direct does not believe patients should learn on the Internet whether they have cancer-and at this point in my odyssey, I fully agree-so a genetic counselor calls with the results.

â€Give me the bullet,†I say.

â€Your tests were negative,†she says.

Life is beautiful.