Learning What Your Genome Contains

From today’s Wall Street Journal health blog, here’s the story of a Stanford professor who used information from his genome to change his diet and exercise patterns to bring his blood sugar levels back to normal. It appears to illustrate the upside of genetic testing.

Snyder, who is 56, two years ago decided to see what genetics might tell him about his own health. He’s not alone, as the cost of mapping a person’s full genetic profile has been dropping quickly, as WSJ reports, raising questions about how best to use the information. Colleagues sequenced Snyder’s whole genome, which revealed a number of potential health issues.

He learned he has an elevated risk for heart disease, not unexpected since “everyone on my father’s side died of heart failure,” he says. Surprisingly, he also discovered he is at higher risk for Type 2 diabetes. “For me, that came out of nowhere,” he says.

Snyder is physically active and isn’t overweight. And, at the time of the genome test, his glucose level was normal. But the level began rising gradually over the next few months. Finally, at a physical, the doctor told him the latest tests showed, “You are diabetic.”

He ramped up his bike riding and added running to his regimen. He cut out most sweets. “It took six months, but my glucose came back to normal,” he says. His doctor now calls him a “managed diabetic,” says Snyder, who has so far avoided needing medication.

Snyder is one of the drivers behind a Stanford study of faculty members in the genetics department who were offered the chance to get their genome sequenced and interpreted. Participants will be followed for more than a year to see how they use the information to manage their health, how they react to unexpected findings and other issues.

A downside of having your genome analyzed is that, legally or illegally, risk factors could potentially be used against you by employers or insurers. Federal law has some protections in place against such abuses, but we are at such an early stage in the application of this technology that the future is very much uncharted territory.

An interesting sidelight of this doctor’s story, not fully addressed in this article, is the fact that his diabetes first emerged very shortly after he was told that he had a genetic predisposition to that disease.

Certainly that could be a coincidence and there’s no overt indication to the contrary. But what an odd coincidence!

 

Wendell Berry’s Jefferson Lecture at the National Endowment of the Humanities

Wendell Berry is one of my two favorite living poets. (The other is Gary Snyder). A farmer and a professor (University of Kentucky), he has long been among the wisest voices advocating for the values and practices of sustainability and community.

From today’s morning email from the Chronicle of Higher Education:

At a time that has followed crises in the global economy, unrest in society, and deterioration in the world’s ecosystems, the National Endowment for the Humanities could not have picked a more potent speaker than Wendell Berry for this year’s Jefferson Lecture in the Humanities. The essayist, novelist, and poet—a Kentuckian long known for his advocacy for family farming, community relationships, and sustainability—delivered a characteristically eloquent yet scathing critique of the industrial economy and its toll on humanity in his remarks here on Monday.

“The two great aims of industrialism—replacement of people by technology and concentration of wealth into the hands of a small plutocracy—seem close to fulfillment,” Mr. Berry said. “At the same time the failures of industrialism have become too great and too dangerous to deny. Corporate industrialism itself has exposed the falsehood that it ever was inevitable or that it ever has given precedence to the common good.”

Mr. Berry’s speech was a discussion of affection and its power to bind people to community. It was also a meditation on place and those who “stick” to it—as caretakers and curators. “In affection we find the possibility of a neighborly, kind, and conserving economy,” Mr. Berry said.

The opposite of the “sticker”—in the words of Mr. Berry’s mentor, the writer Wallace Stegner—is the “boomer,” those who “pillage and run.” Mr. Berry described James B. Duke, the founder of the American Tobacco Company, as a boomer who had an impact on the author’s own farming family history: In 1907, Mr. Berry’s grandfather sought to sell his tobacco crop in Louisville, so the family could maintain a meager existence on their land in Kentucky. But thanks to prices driven down by the monopolistic American Tobacco Company, his grandfather came home without a dime.

Mr. Berry once encountered James B. Duke—in bronze, if not in the flesh—during a visit to Duke University.

“On one side of his pedestal is the legend: INDUSTRIALIST. On the other side is another single word: PHILANTHROPIST. The man thus commemorated seemed to me terrifyingly ignorant, even terrifyingly innocent, of the connection between his industry and his philanthropy.”

That disconnection is endemic to our era. “That we live now in an economy that is not sustainable is not the fault only of a few mongers of power and heavy equipment. We all are implicated,” Mr. Berry said. Our relationship to the land and to community is increasingly abstract and distanced.

“By economic proxies thoughtlessly given, by thoughtless consumption of goods ignorantly purchased, now we all are boomers,” he said. “We have progressed to the belief that humans are intelligent enough, or soon will be, to transcend all limits. … Upon this belief rests the further belief that we can have ‘economic growth’ without limits.”

Pink Slime Update Plus USDA Proposal to Remove Federal Inspectors from Industrial Chicken Operations

An excellent discussion from the Up with Chris Hayes show, featuring Mark Bittman of the New York Times, whose excellent food columns I read regularly. 

This 20-minute video offers a perspective rarely seen on television.

h/t Erik Marcus

Doctors Urge Their Colleagues to Quit Doing Worthless Tests

This is a very difficult policy to implement as long as doctors and hospitals continue to be paid more when they perform more procedures. Radiology departments are major profit centers for hospitals and other health care facilities.

To see major medical groups such as the American Board of Internal Medicine endorse this policy is heartening. I would add that my profession, chiropractic, has made major changes along these lines within our educational institutions over the last decade. Student interns cannot routinely x-ray patients; for imaging studies to be approved, specific guidelines (such as the Canadian Cervical Spine Rule) must be followed.

Nine national medical groups are launching a campaign called Choosing Wisely to get U.S. doctors to back off on 45 diagnostic tests, procedures and treatments that often may do patients no good.

Many involve imaging tests such as CT scans, MRIs and X-rays. Stop doing them, the groups say, for most cases of back pain, or on patients who come into the emergency room with a headache or after a fainting spell, or just because somebody’s about to undergo surgery.

The Choosing Wisely project was launched last year by the foundation of the American Board of Internal Medicine. It recruited nine medical specialty societies representing more than 376,000 physicians to come up with five common tests or procedures “whose necessity … should be questioned and discussed.”

The groups represent family physicians, cardiologists, radiologists, gastroenterologists, oncologists, kidney specialists and specialists in allergy, asthma and immunology and nuclear cardiology.

Eight more specialty groups will join the campaign this fall, representing hospice doctors, head and neck specialists, arthritis doctors, geriatricians, pathologists, hospital practitioners, nuclear medicine specialist and those who perform a heart test called echocardiography.

Consumer groups are involved, too. Led by Consumer Reports, they include the AARP, National Business Coalition on Health, the Wikipedia community and eight others.

The effort represents a growing sense that there’s a lot of waste in U.S. health care, and that many tests and treatments are not only unnecessary but harmful.

Harvard economist David Cutler estimates that a third of what this country spends on health care could safely be dispensed with.

h/t Stephen Perle

Cancer v. the Constitution

A human tragedy, which could become much less common or much more common depending on what the Supreme Court decides.

She hadn’t gone to the doctor because she had no health insurance. The only kind of work she could get in a struggling rural community was without benefits. Her coat and shoes beside the gurney were worn and her purse from another decade. She could never afford to buy it on her own. She didn’t qualify for Medicaid, the local doctor only took insurance, and there was no Planned Parenthood or County Clinic nearby.

So nothing was done about the bleeding until she passed out at work and someone called an ambulance. She required a couple of units of blood at the local hospital before they sent her by ambulance to our emergency department.

I looked at the fungating mass on her cervix. Later the Intern wondered why she hadn’t picked up on the smell. Probably a combination of it being so gradual and denial. It’s amazing what people learn to tolerate when their options are limited.

“I’m very sorry to tell you this looks like a cancer of the cervix,” I said

She looked surprised. “Oh.” She paused in silence as she adjusted to the news. And then quietly she added, “But the doctor back home said you could fix me up. He said you can offer free care because you have the university.”

But we didn’t have free care at the university hospital.

h/t Meteor Blades

Study Confirms Weight Loss Surgery Benefit for Diabetics

This new research confirms what was strongly suggested by earlier studies — that bariatric surgery leads to major weight loss, and either directly or indirectly leads to major improvements in the diabetic status of these formerly obese individuals.

I’ve lectured on this topic in my clinical nutrition class and it generally stimulates fruitful class dicsussion. Essentially, we’re looking at a dangerous condition that is almost entirely preventable through diet and exercise. We then see tens of millions of people failing at prevention and then finding themselves in a terrible situation. Once they’ve reached that point, this surgery clearly leads to much improved outcomes. It’s a classic example of radical measures being offered at a late stage for something that should never have reached that point.

It concerns me that we are now seeing, for what to my knowledge is the first time, a serious suggestion that bariatric surgery be provided to diabetics who are even slightly overweight. Again, where is the prevention?

The following quotes are from the National Public Radio coverage of the story, which I’m citing because unlike the MedPage story cited above, this one mentions recommending this surgery for diabetics with a Body Mass Index as low as 26, which is just barely overweight. (Obesity starts at a BMI of 30, and morbid obesity, which is usually when bariatric surgery is provided, starts at a BMI of 40).

This research raises an important question: Should diabetics start getting this operation more often? Paul Zimmet of the International Diabetes Federation, who co-authored an editorial accompanying the studies, thinks they should.

“Diabetes coupled with obesity is probably the largest epidemic in human history. At the moment, bariatric surgery is seen as a last resort. And it should be offered earlier in management,” Zimmet said in a telephone interview.

But others aren’t so sure. The new studies followed only about 200 patients. And while the operations appear to be pretty safe, there can be complications. And the complications can be serious.

“I think we need longer-term follow-up than what was done in these studies to make sure you’re not trading one problem for another,” said Vivian Fonseca of the American Diabetes Association.

Researchers are now testing whether the surgery works on diabetics who aren’t even obese — people with BMIs as low as 26. And doctors and patients are waiting to see if insurance companies will pay for the operations just to treat diabetes.

Earlier this year, I attended (and spoke) at a U.S. Department of Health and Human Services listening session here in Kansas City that focused on what services should be included in an essential benefits package under health reform. For me, the most unexpected part of the event was that of perhaps 30 presenters, four were bariatric surgeons. I was surprised, in part, because I was aware of the research supporting bariatric surgery and had assumed they were in no danger of being excluded.

Now, in light of this new research that was certainly in the pipeline at the time of the hearing, it occurs to me that their presence (which I assume will be duplicated in many other venues), may have been part of a concerted push for a major expansion of their services into the non-obese market.

Pink Slime Surprisingly Unpopular for School Lunch Menus

Who could have guessed?

Today’s New York Times has an up-to-the-minute pink slime report. Apparently, this is a fast-moving story.

The Miami-Dade school district, one of the nation’s largest, has already said it would opt for pink-slime-free beef, even though it expected it to cost more (exactly how much remained uncertain). State officials in South Carolina said they would procure only the pink-slime-free ground beef once it became available.

But for some school districts — with administrators fielding phone calls from concerned parents and fretting about past food scares — next fall is not soon enough. The Boston school district, among others, has taken the step of purging all ground beef from its menus. Other districts, like the New York City schools, have begun phasing out ground beef containing the additive from their lunchrooms.

Michael Peck, the director of food and nutrition services for the Boston schools, said the district had decided to hold and isolate its entire inventory of ground beef, leaving over 70,000 pounds of beef — worth about $500,000, Mr. Peck estimated — confined to a warehouse until the district knows more about what is in it.

“It’s another example of the alteration of our food supply,” said Mr. Peck, who is concerned about the use of ammonia hydroxide gas to kill bacteria in the product. “Have we created another unknown safety risk?”

The district will put the meat back into circulation if it finds that it is free of the filler, but like many districts, it is frustrated by the difficulty of determining what does and does not contain lean finely textured beef, which does not have to be listed as an ingredient.

“It does speak to the U.S.D.A.’s ability to trace,” Mr. Peck said. He added that the ground beef would be donated or thrown out if the district found that it contained pink slime.

Why Adjust the Dosage on a Useless Drug?

Merrill Goozner is among our nation’s best health policy reporters. His concern about this FDA decision is one that makes a great deal of sense.

Professors Lisa Schwartz and Steven Woloshin of the Center for Medicine and the Media at The Dartmouth Institute for Health Policy and Clinical Practice are raising alarms about a recent Food and Drug Administration decision to approve a new dosage for the  best-selling Alzheimer’s drug Aricept (donepezil). The decision “breached the FDA’s own regulatory standard” and has led to “incomplete and distorted messages” about the drug, they warned in the latest British Medical Journal.

Aricept has become a $2 billion-a-year blockbuster in large part because people caring for elderly patients with dementia are desperate for something, anything to slow their loved ones’ inexorable decline. The original dose for the drug, which was approved in 1996, provided a short-term improvement in memory that faded to insignificance within six months. With its patent due to expire, the companies behind the drug — Eisai and Pfizer — went to the FDA with a clinical trial in 1,400 patients claiming a higher dosage showed better results. The FDA agreed, which gave the companies another three years of marketing exclusivity based on a use patent for that new, higher dose.

Here’s the medical problem with that higher dosage, according to Schwartz and Woloshin. While the clinical trial showed that patients did slightly better in cognition (like recognizing numbers), the drug had no impact whatsoever on their actual functioning in day-to-day life, at least none that their caregivers could notice. Yet the major side effects of the drug — nausea and vomiting — increased significantly. The article claimed that the FDA had said specifically to the trial sponsors that the higher dose had to have an impact that caregivers could notice to win approval. Schwartz and Woloshin charged the FDA with violating its own standards.

Supreme Court Unanimously Rules Against Patenting “Laws of Nature”

This is a most promising development. The biotech companies’ willy-nilly rush to patent everything in sight had to end somewhere. It’s important not to generalize too broadly from this ruling, but it does seem to be a line in the sand that even this corporate-friendly Court felt compelled to draw. Good for them!

The unanimous Supreme Court decision said, “Laws of nature, natural phenomena and abstract ideas are not patentable” under provisions of the US Patent Act.

To be covered by a patent, “an application of a law of nature… must do more than simply state the law of nature while adding the words ‘apply it.’ It must limit its reach to a particular, inventive application of the law,” said the decision written by Justice Stephen Breyer.

“The claims are consequently invalid,” said the court’s decision, which reversed an earlier ruling of the US Court of Appeals for the Federal Circuit.

The patents covered a method developed by Prometheus Laboratory for adjusting dosages of thiopurine treatment for patients with immune system diseases, such as Crohn’s disease, a chronic intestinal inflammation.

The unanimous Supreme Court decision said, “Laws of nature, natural phenomena and abstract ideas are not patentable” under provisions of the US Patent Act.

To be covered by a patent, “an application of a law of nature… must do more than simply state the law of nature while adding the words ‘apply it.’ It must limit its reach to a particular, inventive application of the law,” said the decision written by Justice Stephen Breyer.

“The claims are consequently invalid,” said the court’s decision, which reversed an earlier ruling of the US Court of Appeals for the Federal Circuit.

The patents covered a method developed by Prometheus Laboratory for adjusting dosages of thiopurine treatment for patients with immune system diseases, such as Crohn’s disease, a chronic intestinal inflammation.

Interesting Findings But at What Cost? How Massage Heals Sore Muscles

This study is revealing on more than one level.

First, it clearly documents for the first time that a specific anti-inflammatory process is triggered by massage, involving suppression of pro-inflammatory cytokines and stimulation of the mitochondria, which play a role in cellular repair. For the researchers and the New York Times writer reporting the story, that’s the bottom line.

But after reading it through twice, I find myself appalled at the protocol they used. Taking muscle biopsies on healthy people in order to understand a bodiliy mechanism goes against the grain for me. In essence, what’s being done is to intentionally injure the body in order to understand how it responds to injury. From my perspective, it’s a strange set of bioethics that considers this par for the course. I don’t like this when it’s done to animals and I don’t like it any better when it’s done to consenting humans.

Tiffany Field of the University of Miami Medical School, who is quoted in the article, has for decades been the acknowledged leader in massage research. She’s quite happy with the findings. Much as I would like to be, I find the method through which they were gained to override the benefits they represent.

Their experiment required having people exercise to exhaustion and undergo five incisions in their legs in order to obtain muscle tissue for analysis. Despite the hurdles, the scientists still managed to find 11 brave young male volunteers. The study was published in the Feb. 1 issue of Science Translational Medicine.

On a first visit, they biopsied one leg of each subject at rest. At a second session, they had them vigorously exercise on a stationary bicycle for more than an hour until they could go no further. Then they massaged one thigh of each subject for 10 minutes, leaving the other to recover on its own. Immediately after the massage, they biopsied the thigh muscle in each leg again. After allowing another two-and-a-half hours of rest, they did a third biopsy to track the process of muscle injury and repair.

Vigorous exercise causes tiny tears in muscle fibers, leading to an immune reaction — inflammation — as the body gets to work repairing the injured cells. So the researchers screened the tissue from the massaged and unmassaged legs to compare their repair processes, and find out what difference massage would make.

They found that massage reduced the production of compounds called cytokines, which play a critical role in inflammation. Massage also stimulated mitochondria, the tiny powerhouses inside cells that convert glucose into the energy essential for cell function and repair. “The bottom line is that there appears to be a suppression of pathways in inflammation and an increase in mitochondrial biogenesis,” helping the muscle adapt to the demands of increased exercise, said the senior author, Dr. Mark A. Tarnopolsky.