Ohio State’s P4 Medicine Update, April 24, 2012

Captured by Sherri Kirk

With New Electronic Health-care Devices, the Doctor Might Not Need to See You Now

Columbus Dispatch (via San Jose Mercury News)

It’s hard to find a better example of how technology is revolutionizing patient care than the tiny edible sensor that Proteus Biomedical of Redwood City, Calif., plans to begin selling this fall in the United Kingdom.

When the grain-of-sand-size sensor is integrated into a drug tablet or capsule and activated by stomach fluid, it signals when the medicine was taken to a patch on the patient’s body. Then the patch relays the information along with the person’s heart rate and other medical details to a caregiver’s phone — all without a visit to the doctor.

“We’re seeing an enormous surge in demand for health services across the globe,” said Proteus CEO Andrew Thompson, noting that he plans to offer a similar product in the United States. To meet that need inexpensively, he added, “health care must digitize. It must move into the 21st century.”

Some experts predict that in the near future, tens of millions of Americans will be tethered to gadgets that will automatically send their vital signs to medical professionals, relatives and concerned friends.The technology already has generated an industry worth well over $1 billion a year. And despite concerns that the data transmitted by patients could overwhelm doctors and be spied on by hackers, the trend is widely expected to transform the relationship between patients and physicians.

Eric Nagel, a 57-year-old semiconductor analyst who lives in Los Gatos, Calif., generally takes his blood pressure readings in the morning with a monitor made by iHealth of Mountain View, Calif. The device sends the data in an easy-to-understand form to his iPhone, and every few weeks, he emails the data to his doctor, who became concerned about Nagel’s high blood pressure a year ago.

“She wanted to put me on medicine,” Nagel said. But he worried about the possible side effects and chose instead to exercise more and improve his diet.

“It’s been a very positive thing for me,” he said. “I’ve been able to get my blood pressure down. The device was able to show me what changes I was making that were positive and which ones weren’t.”

Lots of patients could benefit by sharing their medical data more regularly with a physician, said Dr. Joseph Smith of the West Wireless Health Institute in La Jolla, Calif., which seeks to lower health-care costs in part through new innovations.

“The notion that your needs for health care are best met by seeing a doctor a couple times a year, when you live every day, is probably wrong,” he said. “There is obvious value in knowing more.”

Many people are reaching the same conclusion.

Of 2,000 consumers surveyed by PricewaterhouseCoopers in 2010, 40 percent said they would buy a device and pay a monthly fee to automatically send their heart rate, blood pressure, blood sugar and weight data to their doctors. And Connecticut research firm Nerac estimates that by 2020, “at least 160 million Americans will be monitored and treated remotely for at least one chronic condition.”

The technology also has aroused some concerns.

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First Bedside Genetic Test Could Prevent Heart Complications

Captured by Technology Review

For some cardiac patients, recovery from a common heart procedure can be complicated by a single gene responsible for drug processing. The risk could be lowered with the first bedside genetic test of its kind. The test shows promise for quickly and easily identifying patients who need a different medication.

After a patient receives a heart stent—a small scaffold that props open an artery—his or her doctor will prescribe a blood thinner to prevent platelets from building up inside the device. However, for some 70 percent of patients with Asian ancestry and 30 percent of patients with African or European ancestry, a single genetic variant will prevent one of the most commonly prescribed blood thinners from working. Alternatives exist, but they are more expensive, so hospitals could use an easy way to identify who does and does not need the more expensive drug.

Canada’s Spartan Bioscience has developed a near “plug-and-play” genotyping device that allows nurses and others to quickly screen patients at the bedside, perhaps while they are undergoing the stent placement procedure. Users take a DNA sample from a patient’s cheek with a specialized swab, add the sample to a disposable tube, and then place the tube and sample in a proprietary shoebox-sized machine and hit a button. Shortly thereafter, the user receives a printout of the patient’s genetic status for the drug-processing variant. The whole procedure takes about an hour. Most clinicians currently have to wait several days for similar information to come from off-site genetics testing companies.

“For six years we’ve been plugging away at this, and we finally broke through about a year and a half ago,” says Spartan Bioscience founder Paul Lem. He says the simple test came to life with innovations at every step—from the special swab that collects the right amount of DNA, to the chemicals in the disposable reaction tube, to the software that automates the DNA reading—and a team with diverse backgrounds including his in medicine and molecular biology and others’ in optical hardware.

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How Predictive are Genomes?

Captured by The Scientist

Researchers put the predictive power of whole genome sequencing to the test.

Although the price of genome sequencing is rapidly becoming more affordable to the general population, to what extent these tests will impact a person’s lifestyle and medical treatment choices remains unclear. By analyzing life-long data collected from thousands of twins, researchers led by renowned Johns Hopkins oncologist Bert Vogelstein tested how well whole genome sequencing could predict an individual’s risk of developing 24 common diseases.

Their analysis, published today (April 2) in Science Translational Medicine, showed that most people are likely to get negative results for the majority of the diseases studied, thus failing to provide any actionable information. For example, while sequencing tests are effective at predicting cancer risks in people with hereditary cancers, they are not as informative for people who lack a family history of the disease.

“In families with strong histories of cancer, whole genome sequencing can still be very informative for identifying inherited genes that increase cancer risk,” Victor Velculescu, a professor of oncology at Johns Hopkins, said in a press release. “But hereditary cancers are rare. Most cancers arise from mutations acquired through environmental exposures, lifestyle choices, and random mistakes in genes that occur when cells divide.”

The results suggest that genome sequencing is not likely to displace other preventive measures any time soon. “We need other strategies,” Vogelstein said today at the American Association for Cancer Research (AACR) annual meeting in Chicago. “My favorite is early detection.”

Study Says DNA’s Power to Predict Illness Is Limited

Captured by NYTimes

If every aspect of a person’s DNA is known, would it be possible to predict the diseases in that person’s future? And could that knowledge be used to forestall the otherwise inevitable?

The answer, according to a new study of twins, is, for the most part, “no.”

While sequencing the entire DNA of individuals is proving fantastically useful in understanding diseases and finding new treatments, it is not a method that will, for the most part, predict a person’s medical future.

So, the new study concludes, it is not going to be possible to say that, for example, Type 2 diabetes will occur with absolute certainty unless a person keeps a normal weight, or that colon cancer is a foregone conclusion without frequent screening and removal of polyps. Conversely, it will not be possible to tell some people that they can ignore all the advice about, for example, preventing a heart attack because they will never get one.

“The punch line is that this sort of personalized medicine will not in any way be the most important determinant of patient care,” said Dr. Bert Vogelstein of Johns Hopkins, who, with his colleagues and his son Joshua, analyzed the power of sequencing all of a person’s DNA to determine an individual’s risk of disease. The study, published online Monday in the journal Science Translational Medicine, involved data from 53,666 identical twins in registries from the United States, Sweden, Finland, Denmark and Norway. The registries included data on 24 diseases, telling how often one twin, both or neither got a disease.

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Personal Gene Mapping Has Limits, Study Says

Captured by U.S. News

Many people have pinned their hopes on human genome scans as the cornerstone of the rapidly emerging field of personalized medicine, able to predict the future health of individuals.

But there may be limits to what information whole genome sequencing can provide, according to new research slated for presentation Monday at the American Association for Cancer Research annual meeting in Chicago. The study will be simultaneously published online in Science Translational Medicine.

“In most cases, genome sequencing is not going to tell people what disease they’re going to get or die from. It can be valuable in telling what diseases they have an excess risk for,” said study co-author Dr. Bert Vogelstein, director of the Ludwig Center for Cancer Genetics and Therapeutics at Johns Hopkins University in Baltimore.

“Genome sequencing is not going to be the dominant component of patient care,” he added. “It will not be a substitute for preventive medicine strategies incorporating routine check-ups, exercise, physical status, lifestyle.”

The costs of whole genome sequencing are plummeting, making the test more accessible to more people, yet the ability of the test to provide useful information to patients has not been studied quantitatively, Vogelstein said.

The authors used data on identical twins in registries in Sweden, Denmark, Finland and Norway, as well as a U.S. registry of World War II military veteran twins, to look at genetic risk for 24 common diseases including diabetes, Alzheimer’s and breast cancer.

The researchers calculated that genetic sequencing would reveal a predisposition to at least one disease in 90 percent of the twins studied.

But that’s only predisposition, not whether you actually fall ill or not. The actual risk of getting one of these conditions would be no different from that of the general population, the authors noted.

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Genome sequencing to add new twist to doctor-patient talks

Captured by American Medical News

Ethical questions need to be answered, including what genetic findings should be reported to patients.

New York geneticist Robert Marion, MD, envisions a future where whole-genome sequencing will be used to help prevent many medical conditions from developing.

Geneticists say this new era of medicine could occur within a decade, thanks to the complicated procedure being tested in a growing number of research settings across the country.

In whole-genome sequencing, geneticists use a patient’s blood sample or other source of genetic material to examine the 20,000 to 25,000 genes that make up an individual’s genome. By comparison, standard genetic testing used widely by health professionals today examines only individual genes, geneticists say. As a result, physicians often must order multiple tests to get needed genetic information.

Whole-genome sequencing will enable specialists to identify variations in a person’s genetic code that increase his or her genetic risk of developing a spectrum of conditions, including Alzheimer’s disease, cancer, diabetes and schizophrenia. The procedure also will reveal the cause of undiagnosed symptoms, an individual’s propensity for becoming dependant on nicotine, and the likely effect of medication on conditions such as asthma and cardiovascular disease.

Some geneticists estimate that within five years, as the procedure becomes more affordable, primary care physicians will begin sifting through patients’ whole-genome sequence results and creating preventive care plans for conditions the individual is at risk of developing. In 10 years, such sequencing could become a routine part of medical care performed on newborn babies and older patients.

An estimated 20,000 to 25,000 genes make up a person’s genome.
“Medicine will go from a field where we are reactive to one in which we can prevent symptoms and signs from ever occurring. That’s really a game-changer in medicine,” said Dr. Marion, chief of the division of genetics and child development in the Dept. of Pediatrics at the Children’s Hospital at Montefiore and the Albert Einstein College of Medicine in New York.

But these experts admit there are uncertainties and ethical concerns about whole-genome sequencing that need to be resolved before it becomes a standard procedure used by physicians for patients. Among the chief worries is what to do with the large number of variants in genes associated with human disease that can show up in a patient’s sequencing.

“The genome is so complex and some of our understanding of various mutations is so shaky that it’s hard to tell which information is meaningful and which isn’t,” said Robert C. Green, MD, MPH, associate professor of medicine in the Division of Genetics at Brigham and Women’s Hospital and Harvard Medical School in Boston.

There are no guidelines on which findings from whole-genome sequencing geneticists should report to physicians and which results should be passed on to patients, geneticists say. Also lacking is clear guidance on who should have access to the findings, such as a patient’s employer or relatives who could share some of the same genes.

“The ethics of this has to be worked out, but this is what usually happens in molecular genetics and technology in general,” Dr. Marion said. “This will alter the way we care for people.”

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