Michelle, a 40-year-old oral surgeon, was worried. Had been for a long time. Breast cancer and heart disease had cut down too many branches of her family tree. She strove to be a model of prevention and wellness—racking up triathlons, sticking to organic fare, following standard medical advice to the letter. Still, as a doctor, she knew it might not be enough.
What she sought was a medical crystal ball, something that could look deep inside her and accurately predict whether she'd be around to watch her young daughters thrive. What she found was Diagnostic and Medical Specialists of Greenwich, a Connecticut doctors' office on the forefront of a new kind of medicine. One that might reveal exactly what her risks were, and how she could avoid getting sick.
Michelle sat for hours with an internist who mapped out four generations of illness in her family. After a mammogram, her M.D. kept going. He ordered a genetic test for the BRCA mutations linked to breast and ovarian cancer. He studied a sub-profile of Michelle's cholesterol, looking for the kind that would fast-track her toward heart disease. He measured inflammation markers in her vital fluids to calculate the chances that she'd have a heart attack or stroke in the next 10, 20, and 30 years. Then they started planning for Michelle's long-term health.
It might sound like straight-up sci-fi, but this type of hyper-specific care is becoming a buzzed-about reality. It's called personalized medicine, and its promise, via novel technologies, is that you will soon be able to visit your doc for a tailored health plan—not for the average woman, but for you. You alone.
"This is the future," says Michael Snyder, Ph.D., director of the Stanford Center for Genomics and Personalized Medicine. "You'll see what you are at risk for, then take corrective action." As evidenced by Michelle, parts of that future have already arrived. Personalized medicine is now a $232 billion market, with major research centers—from Stanford to Duke to Harvard—racing to prevent and cure disease, and to create individualized prescriptions for well-being.
The question is: Will it deliver?
This Plan's For You
Yeah, you know: Exercise 150 minutes per week, sleep eight hours per night. Avoid junk food and too much booze, and just say no to cigs. You've been getting this generic health advice since you were a teen. It's part of the existing traditional medical model, built on "standards of care" for various genders, ages, and ethnicities. (Also part of the model: trial-and-error treatments.)
Personalized medicine is poised to make that one-size-fits-all method feel as quaintly obsolete as an IBM word processor. Doctors can now peruse a Google Maps-like view of your genome and gain insight into your disease risk. "Personalized medicine uses all sorts of equipment," says Michelle's doctor, Steven Murphy, M.D. His own toolbox includes, for example, tests for gene mutations; biomarker scans that pinpoint proteins in the blood linked to certain conditions; and liver-enzyme tests that show how well someone metabolizes medication. But it's not just lab science.
"By combining molecular information with lifestyle and medical history, we can tailor treatment to the unique characteristics of each person," says Edward Abrahams, Ph.D., president of the Personalized Medicine Coalition. If a woman were, for instance, overweight and genetically predisposed to developing diabetes, her doctor could customize a preventive plan. He might do a physiological test that calculates exactly how many calories she should consume each day. A blood profile could reveal what's going on with the fatty acids, micronutrients, hormones, and proteins in her body—and whether she should eat a low-fat or low-carb diet.
Within the decade, say experts on the topic, this kind of bespoke medicine will be practiced in every hospital and clinic in the country. The potential is mind-boggling, and the research is tumbling in fast and furiously. Each month, scientists discover new disease markers, formulate new tests, and fashion new treatments. "I am tremendously optimistic about this area," says Mark Rubin, M.D., director of the Institute for Precision Medicine at Weill Cornell Medical College. "However, it's important to say this is still the cutting edge of medicine." And with that early edge comes plenty of obstacles and controversy.
At What Price, Wellness?
Here's the first, most challenging hurdle: Physicians can order the tests, scientists can sequence your genes, you can look inside your cells. . .then what? "The key is to take all this and put it together in a meaningful way," says Kathryn Teng, M.D., director of the Cleveland Clinic's Center for Personalized Healthcare.
Ideally, that's where your primary-care doctor comes in, connecting the dots and creating a plan. But not all M.D.'s are up to speed. Only 10 percent of doctors believe they have the know-how to translate personalized testing into personalized care, per the American Medical Association. Even early adopters need time to study up and get it right. "I would say that we're at a tipping point for personalized medicine, or very close to it," says Geoffrey Ginsburg, M.D., Ph.D., executive director of the Center for Personalized and Precision Medicine at Duke University. "People are knocking on our door, asking to learn more." Still, for now, unless you live near a big center, you'll probably have to wait a bit longer for fully tailored treatment.
Then there's the issue of cost. Insurance coverage is all over the map; plans vary widely, with some footing the bill and others leaving patients on their own. Sans any insurance, sequencing an entire genome runs around $5,000 to $10,000, and that doesn't include analysis. The kind of full, sophisticated workup Michelle received can push past $25,000 if you have no coverage for it. (As research continues to advance, insurers will likely get on board.)
Still being weighed are privacy and ethical concerns. Though a 2008 federal act bans employers and insurers from discriminating against you based on your genes, loopholes do exist, and the law doesn't cover disability or life insurance. And say you ask your doctor to dig deep into your molecules for something stroke-related, and he finds a Parkinson's red flag instead. "Should we tell patients about everything that may be lurking in their genome, even if they didn't ask?" asks Ginsburg. "What if we find something for which there is no treatment?"
In Reach, Right Now
So, sure, there are some accessibility issues. But pressing your doctors for tailored care now will push them to study new tests and treatments. (For example, Murphy gives each of his female patients a new saliva scan that can predict their odds of developing non-BRCA breast cancer. Many physicians, he says, have never heard of it.) And you might be able to benefit from these three personalized-medicine fields already in full swing:
Risk Prediction
Sussing out certain burps in your DNA can give you a chance to delay, prevent, or reduce the impact of disease. The best place to start? The good ol' family history. "It's not the most high-tech, but it is the most cost-effective and is important screening," says Ginsburg. The problem: Only a small percentage of medical records contain adequate family history info, likely because most doctors don't have the time—at least one hour—to do them right.
Test-wise, there are more than 1,600 genetic tests now available that can ID your susceptibility to everything from hearing loss to cardiac attacks. So if you, like Michelle, learn you inherited a gene that predisposes you to a dangerous form of high cholesterol (it raises heart-attack risk 125-fold for women), you now have massive incentive to step away from fatty foods. Or if you, for example, discover you carry one of 45 different genetic variants linked to heart attacks, you might start taking a daily aspirin earlier than your same-age gal pals.
Drug Therapies
Another subfield, pharmacogenomics, uses genetics to take the guesswork out of prescription meds. In many cases, you can get the type and dosage that's right for you—the first time around.
Today, the FDA website lists more than 100 drugs—for conditions ranging from depression to anxiety to cancer—whose labels contain pharmacogenomics information. Per the Personalized Medicine Coalition, for instance, if docs used that info every time they prescribed blood thinners, they could prevent 17,000 strokes and avoid 43,000 ER visits every year. Other examples include that heart-related aspirin therapy (Duke University researchers just created a blood test that shows who it will work for and who it won't), and a brain scan that signals whether a person with depression would best benefit from drugs or talk therapy.
Cancer Genetics
There was a time when oncologists looked at cancer solely in terms of where it was located—bone or brain or blood, for example. Now, in many cases, personalized-medicine technology can tease out what exactly is driving a cancer and which drugs could shut it down. What was once simply called breast cancer may now be called triple negative or HER-2 positive (diagnoses with different treatments, says Ginsburg). Lung-cancer patients can now be tested for more than 40 glitches in 10 different cancer genes, and melanoma patients can be screened for one of 43 mutations in six genes.
In other words, fading away are the days of carpet-bombing cancer with chemo, or using one particular drug for every person who has a certain type of cancer. "In many cases, thanks to cancer genome sequencing, it is now obvious how to treat a patient," says Snyder.
The most important thing is to ask questions—lots of 'em. "Women are the ones who are going to help drive personalized medicine, since they are typically more invested in their health," says Teng. "And for people who are really motivated, personalized medicine is going to be very, very helpful."
Final case in point: Six years ago, when Stephanie, a 39-year-old nonsmoking mother of two, was diagnosed with stage IV lung cancer, her doctors said it would be fatal, fast. Stephanie had heard of personalized cancer genetics and asked for testing; her doctor said no, it wouldn't change her treatment. So she found another oncologist, who tested her, found a gene mutation, and enrolled her in a new drug trial. "I assumed I wouldn't be here today," she says. "Now, I plan for the future."
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