Precision medicine is coming, but not anytime soon

A colleague of mine, an obstetrician-gynecologist, was doing a lot of airplane travel this winter. It got him thinking about the pressure he might feel before entering the operating room. He remarked in February, “Every time I get on a plane, I think, in surgery I have one life in my hands. These pilots are responsible for hundreds!”

The crash of Germanwings Flight 9525 in the French Alps on March 24, 2015 brought this sentiment home in ways my colleague and I never could have predicted. And as information emerges about copilot Andreas Lubitz, the man who apparently brought down the plane in an act of suicide and murder, many observers are now thinking about how to prevent such tragedies.

Last week, I had the chance to talk to Robert Siegel of NPR’s All Things Considered about the opaqueness of mental illness. We talked about how difficult it is to know when a person is struggling with private psychological and emotional pain that might lead to dangerous or destructive behavior.

We all wish — as in the 1956 science fiction story, “Minority Report,” by Phillip K. Dick (turned into the 2002 movie by Steven Spielberg from a screenplay by Scott Frank) — that we could somehow get behind that opacity to predict future crimes and violence and prevent bad things from happening.

All of us tend to keep our thoughts, especially our most disturbing ones, to ourselves. Even when encouraged to speak those thoughts aloud — to a mental health professional, for example — it is very difficult to do so. We may be ashamed. Or we may simply fear being misunderstood.

If an individual tells a mental health professional, “Help me, I’m planning to kill someone,” the clinician can act protectively. If a person chooses to keep the professional in the dark, however, he or she is going to stay right there, in the dark.

There are no “tools” to predict events like suicide that occur relatively infrequently. Murder-suicide is even rarer, while the number of deaths in the Germanwings suicide crash makes it an unprecedented event.

Nonetheless, specific assessments do help clinicians reduce risk. They can look for factors that make a person more likely to cause harm, such as low mood, psychotic thinking, a life stress or loss of social support. By targeting such problems for treatment, the calamities we fear become less likely.

In the aftermath of this tragedy, there will likely be calls for increased scrutiny of pilots. That’s not necessarily a bad thing, but it could lead to the unintended and undesirable consequence that pilots will become even more wary of seeking help. The Germanwings pilot was seeking help which did not prevent him from carrying out a violent act. But policies that cause pilots with psychiatric disorders to avoid treatment and drive them “underground” will likely do more harm than good.

To honor the lives lost will require policies that protect the public while not being punitive to pilots. We will never walk that line perfectly, but if both values are held dear, it will be the best way to give pilots relief and make all of us safer. I don’t know about you, but I am a longstanding believer in an apple a day. There’s always a big wire basket of Galas or Fujis in my kitchen, and I break my fast with an apple over morning email. The enjoyment of apples in my home even crosses the species barrier, as our Giant Schnauzer maws down his twice-daily thyroid pill in meaty quarters of apple. But, are there true apple health benefits? Or, is this just an old adage.

So I read with great interest a report entitled “Association Between Apple Consumption and Physician Visits: Appealing the Conventional Wisdom That an Apple a Day Keeps the Doctor Away” in this week’s edition of JAMA Internal Medicine.

The report was published in the journal’s inaugural April Fools’ Day issue by a pack of parodists from Dartmouth College, the University of Michigan School of Nursing, and the Veteran Affairs Medical Center in White River. It’s based on actual national nutrition data collected from nearly 8,400 men and women — 753 of whom ate an apple a day — and follows rigorous study methods.

Disappointingly, the study concludes, “Evidence does not support that an apple a day keeps the doctor away; however, the small fraction of US adults who eat an apple a day do appear to use fewer prescription medications.”

Apples may have failed this critical scientific test, but you’ll have to pry this tasty fruit from my cold, dead fingers. I wondered if Harvard nutrition experts believe in apple health benefits as strongly as me.

“I do not eat an apple every day,” admits registered dietitian Kathy McManus, director of the Department of Nutrition at Harvard-affiliated Brigham and Women’s Hospital. “However, I do love apples and eat them frequently.”

McManus reassured me that, even though the JAMA study is published with tongue in cheek, you can trust your taste buds if you are an apple fancier. There are some true apple health benefits.

For one thing, you can’t beat the convenience of an apple, McManus points out. “They are an easy go-to snack.” Since apples are about 85% water by weight, they can help fill you up without a lot of calories.

Apples also follow kindergarten rules, since they play nicely with other healthy foods. “I often encourage my patients to combine a healthy carb with a healthy fat and protein by spreading peanut butter on an apple,” McManus says. “Low fat cheese also goes well with apple. Apples are great in salads and salsas, too.”

The belief in apple health benefits seems beyond repute. But can we be sure? In the health field, invisible agendas are omnipresent. After all, the JAMA authors warn, the health benefits of frequent apple intake have been “promoted by the lay media and powerful special interest groups, including the US Apple Association.”

Health reporters need to ask the hard questions. The people demand to know why apples are healthy. I asked McManus to bottom-line it for me.

“In fresh fruit and vegetables you get a complete package of healthy nutrients,” she says. “There is good data to show that the soluble fiber in apples can help prevent cholesterol from building up on artery walls. Apples contain a good amount of potassium, which can be beneficial for those who are watching their blood pressure.”

McManus disclosed no financial relationships with the apple industry. I, on the other hand, can be bought for a paltry peck of Newtown Pippins. It seemed sensible to contact the U.S. Apple Association for comment (and see if they would make me an offer I couldn’t refuse).

In a somewhat carefully prepared statement, Wendy Brannen, Director, Consumer Health & Public Relations for U.S. Apple Association (USApple) said, “Here at USApple, we are all for research and always happy to put the age-old ‘apple a day’ adage to the test.”

However, Brannen asserted, she and her apple-promoting colleagues “are of the mind that an apple a day really does keep the doctor away — or at the minimum make your doctor visits much more palatable.”

Brannen added: “We realize this is going in JAMA’s April Fools’ issue, but it’s foolish to even imply enjoying an apple a day doesn’t support good, preventative health.”

No offense, but I’d call that sour grapes! Thank goodness for objective, evidence-based apple epidemiology.

It would be irresponsible not to address the most controversial public health issue regarding apples: Is apple juice as good for you as a whole apple? McManus is clear on this: “I strongly suggest you eat the whole apple. Juice does not have the fiber a whole apple does, and a good part of the beneficial nutrients are in the skin. Apple juice is not equal to a real apple.”

Are you listening, Apple Juice Industrial Complex?

What we need to resolve this controversial issue is better data. So here’s a suggestion for next year’s April Fools’ issue: “Juice Box or Jawbone: A Randomized Clinical Trial Assessing the Health Benefits of Liquid or Solid Preparations of Apples.” All across America, hospitals are merging. In 2014 alone, there were 95 mergers, acquisitions, and joint ventures among U.S. hospitals, down only slightly from 98 in 2013. What is fueling this strong trend toward hospital consolidation — and more importantly, why should you, as a consumer of health care, be concerned about it?

Like many stories, there are two sides to this one.

Hospital administrators who create the mergers tell one side of the story. They believe that hospital consolidation improves efficiency, access to care, and quality of care, and may lower costs because in theory, the more care a hospital provides, the more efficient and less expensive it should become. For example, when a smaller hospital merges with a larger, better-equipped hospital system, patients at the smaller hospital may acquire better access to specialists and to advanced medical technologies, such as high tech imaging procedures and electronic medical record systems.

From this point of view, consolidation seems like a positive trend that will offer benefits to consumers.

But the story doesn’t end there. In contrast to hospital administrators, many health economists are wary about the growing number of hospital mergers. When individual hospitals merge into larger systems, they gain a larger share of the consumer health market. That puts them in a position to ask health insurance companies to pay more for medical care and procedures. These higher prices are not borne by the insurers, but by consumers in the form of greater premiums. Thus, some economists argue, mergers drive up health care costs and place added financial pressure on consumers.

A recent example is discussed in an article published today in The New England Journal of Medicine. Partners HealthCare, comprising Massachusetts General Hospital and Brigham & Women’s Hospital (both in Boston), along with 12 other health care organizations, is the dominant health care system in eastern Massachusetts. Partners wanted to expand further by acquiring three additional hospitals in their region. The Massachusetts Health Policy Commission, an independent state agency aimed at reducing health care costs and improving quality, voiced opposition to these acquisitions on the grounds that they would drive up health care costs in the state.

The state’s attorney general, Martha Coakley, sued Partners in an attempt to contain the plan, but eventually settled the case when Partners agreed to certain price and cost-growth restrictions.

But the deal also had to be reviewed in state court, and Superior Court Judge Janet Sanders decided to strike down the settlement because of her fear that the consolidation plan would reduce competition and drive up prices for consumers.

Dr. Kenneth Davis, the CEO and president of Mount Sinai Health System in New York, had a different perspective. In a recent article in the Wall Street Journal, Dr. Davis wrote, “The fear that mergers curtail competition, leading to higher prices for medical care, reflects an old way of thinking. Thanks to cataclysmic changes in the delivery of health care, hospital mergers now offer the potential for higher quality and more efficiency.”

But Leemore Dafny, a professor at the Kellogg School of Management at Northwestern University, sees things differently.  She wrote, “What is wrong is that too much market power is concentrated in the hands of too few large providers.  I’d be interested in learning more about how attorneys general can promote competition.”

From the standpoint of consumers, hospital mergers may offer expanded access to health care services, but this may very well come at a cost — higher prices for those services and higher insurance premiums. So if a hospital merger happens in your area, be aware of what might be coming down the road. President Obama’s announcement of a Precision Medicine Initiative was one of the few items in this year’s State of the Union address to garner bipartisan support. And for good reason. Precision medicine, also known as personalized medicine, offers the promise of health care — from prevention to diagnosis to treatment — based on your unique DNA profile. Who wouldn’t want that?

We’ve already had a taste of precision medicine. Relatively low-tech therapies like eyeglasses, orthotic devices, allergy treatments, and blood transfusions have long been personalized for the individual. Genetic analysis of tumors is now routine, spawning new medications like Herceptin trastuzumab (Herceptin) for breast cancer.

The Precision Medicine Initiative aims to ramp up customized medical care exponentially. It calls for increased funding to accelerate sequencing of a million people’s genomes — the entire array of an individual’s genes. With that information in hand, the initiative will be able to develop more effective treatments for cancer and other diseases.

Getting to precision care will require new diagnostic tests to decipher some or all of a person’s genome. These tests are being developed at a rapid clip. Although it took 13 years and cost just under $3 billion to provide the first human genome sequence, it’s now possible to map an individual’s genome in a matter of hours for $1,000.

But new tests and treatments won’t leap directly from the lab to the clinic. The Precision Medicine Initiative also calls for a new regulatory framework to make sure that technologies aren’t launched before they’ve been proven to be safe and effective. It may take a few years to design this new vetting system and put it in place. In other words, precision medicine is on the horizon, but it isn’t around the corner.

In a perspective article in this week’s New England Journal of Medicine, Dr. Eric Lander, founding director of the Harvard-affiliated Broad Institute, discusses how genomic testing should be regulated. He says these tests must do two things: (1) accurately catalog a person’s genes and (2) provide genetic information that is useful in predicting, preventing, diagnosing, or treating disease. The first task may be easier to accomplish than the second.
Putting genomic testing to the test

Blood tests that identify genes for specific diseases have been in use for more than a decade. Such tests can estimate the risk of developing Huntington’s disease, cystic fibrosis, breast cancer, and other conditions. The FDA categorizes these genetic tests as in vitro diagnostics. These tests identify a specific substance, usually a single gene.. In contrast, the new genomic tests examine thousands of a person’s genes. This will pave the way to diagnosing conditions that involve multiple genes.

So far, scientists have identified 3,600 genes responsible for relatively uncommon single-gene disorders; 4,000 genes related to more common conditions like heart disease and diabetes; and several hundred genes linked to cancer.

But just identifying disease-related genes doesn’t mean these genes are useful today. “Genetic discoveries are often devilishly hard to apply in practice,” Dr. Lander explains. Figuring out how a genetic variation actually affects a person’s health, or how genes interact with one another or with environmental factors, may require additional research in thousands of people.
The FDA’s role in precision medicine

We need a new type of FDA oversight for precision medicine, especially given the rate at which for-profit companies are developing and promoting genome testing, says Dr. Lander. That sentiment is echoed by Dr. Arthur Caplan, director of the division of medical ethics at New York University Langone Medical Center and co-host of the podcast Everyday Ethics. “These tests are already the object of huge commercial interest. Testing has clearly gotten ahead of its clinical utility,” says Dr. Caplan.

Unlike Huntington’s disease and cystic fibrosis, each of which stems from an error in a single gene, common conditions like depression, schizophrenia, and autism likely result from the interaction of several genes and a host of environmental factors, which may take years to identify. Yet companies are already promoting genetic tests for those conditions.

Dr. Caplan thinks it may take more than FDA scrutiny to make sure these tests are used appropriately. He believes that professional societies, like the American Society for Human Genetics and the National Society of Genetics Counselors, should set guidelines for using the tests so they achieve meaningful results. “For example, a test could show that your risk of a specific disease is 2 in 10,000, while the average person’s risk is 1 in 10,000. Your risk is 100% higher, but the increase is meaningless because your risk is still so low,” says Dr. Caplan.
When will we see true precision medicine?

Like the Human Genome Project, which sequenced the first genome, the Precision Medicine Initiative is a long-term project. It will take years to amass genomic data from a million people and to evaluate new genome-based tests and treatments. So we won’t be seeing a transformation in our health care in the immediate future, Dr. Caplan predicts. “We still don’t have enough therapies to beam at the known genetic variability when it comes to cancer or other genetic diseases…but we will get there.”

In the meantime, there are a few things you can do to customize your medical care:

    Check out your family health history. The researchers who identified the Huntington’s gene began by tracing the disease through family trees. You can learn a lot about your own health risks from the medical histories of your parents, grandparents, and siblings.
    Hang on to your medical records. Knowing your previous reactions to medications or anesthetics can guide your doctor when prescribing new treatments.
    Consult risk calculators. The National Institutes of Health has several online risk estimators that can give you a general idea of your risk for heart disease, stroke, bone fractures, and several cancers.
    Communicate with your doctors. Establishing an open, honest relationship with your doctors is one of the best ways to assure personalized medical care. Although your doctors may not have your genome at hand, the more they know about your family history, health background, lifestyle, and personal goals, the more likely they are to help you get the care that suits you best.

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