Finding Risks, Not Answers, in Gene Tests

Jennifer was 39 and perfectly healthy, but her grandmother had died young from breast cancer, so she decided to be tested for mutations in two genes known to increase risk for the disease.

When a genetic counselor offered additional tests for 20 other genes linked to various cancers, Jennifer said yes. The more information, the better, she thought.

The results, she said, were “surreal.” She did not have mutations in the breast cancer genes, but did have one linked to a high risk of stomach cancer. In people with a family history of the disease, that mutation is considered so risky that patients who are not even sick are often advised to have their stomachs removed. But no one knows what the finding might mean in someone like Jennifer, whose family has not had the disease.

It was a troubling result that her doctors have no idea how to interpret.

Such cases of frightening or confusing results are becoming more common because of a big recent change in genetic testing for cancer risk. Competing companies have hugely expanded the array of tests they offer, in part because new technology has made it possible to sequence many genes for the same price as one or two. Within the next year, at least 100,000 people in the United States are expected to undergo these tests. The costs, about $1,500 to $4,000, are covered by some, but not all, insurers.

Various efforts are underway to interpret mutations and compile them in publicly available databases; one of the latest is an online registry to which patients can upload their own data. Eventually, they will be able to see how many other people have the same mutation, and how many get cancer. Called Prompt, for Prospective Registry of Multiplex Testing, it was created by Memorial Sloan Kettering, the University of Pennsylvania, the Mayo Clinic and the Dana-Farber Cancer Institute. Several genetic testing companies are also helping to promote it.

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Originally published in The New York Times

Is Social Networking Killing You?

Well, no, probably not. Or at least, not literally. But two British scientists have recently suggested that spending all day, and — admit it — much of the night networking on a computer might in fact be bad for your body and your brain. No less an authority on the brain’s workings than Susan Greenfield, a professor of pharmacology at Oxford University and the director of the Royal Institution of Great Britain, told a British newspaper on Tuesday that social networking sites remind her of the way that “small babies need constant reassurance that they exist” and make her worry about the effects that this sort of stimulation is having on the brains of users. Lady Greenfield (she’s a neuroscientist and a baroness) told the Daily Mail: "My fear is that these technologies are infantilizing the brain into the state of small children who are attracted by buzzing noises and bright lights, who have a small attention span and who live for the moment."

Originally Published in the New York Times

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To Gather Drug Data, a Health Start-Up Turns to Consumers

SAN FRANCISCO — For years, Thomas Goetz had been a spirited armchair advocate of the use of digital technology and data to improve health care. At Wired magazine, where he was executive editor, Mr. Goetz assigned and wrote articles on the subject. He organized conferences, lectured and wrote a book in 2010, “The Decision Tree,” which hailed a technology-led path toward personalized health care and better treatment decisions. In early 2013, just as he was leaving Wired, Mr. Goetz met Matt Mohebbi, a Google engineer who shared his interest in technology and health. Their conversations continued for months, and prompted an epiphany.

“It struck me that I could help make it happen, not just write about using data to personalize and improve health care,” said Mr. Goetz, who has a master’s in public health from the University of California, Berkeley.

Originally Published in the New York Times

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Avoid The Rush! Some ERs Are Taking Appointments

Three times in one week, 34-year-old Michael Granillo returned to the emergency room of the Northridge Hospital Medical Center in Southern California, seeking relief from intense back pain. Each time, Granillo waited a little while and then left the ER without ever being seen by a doctor.

"I was in so much pain, I wanted to be taken care of 'now,' " says Granillo. "I didn't want to sit and wait."

But on a recent Wednesday morning, he woke up feeling even worse. This time, Granillo's wife, Sonya, tried something different. Using a new service offered by the hospital, she was able to make an ER appointment online, using her mobile phone.

When they arrived at the hospital, he was seen almost immediately.
Hospitals around the country are competing for newly-insured patients, and one way to increase patient satisfaction, they figure, might be to reduce the frustratingly long wait times in the ER. To that end, Northridge and its parent company Dignity Health started offering online appointments last summer; since then, more than 22,000 patients have reserved spots at emergency rooms in California, Arizona and Nevada.

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Originally published on NPR

Defibrillation in the movies: A missed opportunity for public health education

Defibrillation with manual defibrillators in the health care setting and automated external defibrillators (AEDs) in public areas can decrease mortality from cardiac arrest.  Public knowledge of how to use AEDs is limited and prior work has demonstrated that the public has concerns about using AEDs.  Communicating accurate messages about defibrillation could improve bystander response and save lives.

Movies impact viewers’ perspectives and behaviors, and with an annual global box office of more than $32 billion, have significant reach worldwide. This entertainment medium also represents an opportunity for educating the public about defibrillation.

In this study, we sought to (1) characterize defibrillation and cardiac arrest survival outcomes in movies, (2) compare resuscitation actions performed in movies with actions outlined for the public to follow in the chain of survival and targeted by the American Heart Association (AHA) Emergency Cardiovascular Care (ECC) 2020 Impact Goals, and (3) compare cardiac arrest survival outcomes in movies with survival rates reported in the literature and targeted by the AHA ECC 2020 Impact Goals.

Via Resuscitation

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New 'cool videos' from NIH look at Alzheimer's, heart attacks, MS, coral reefs

Francis Collins, physician and geneticist, is widely known as director of the National Institutes of Health, former director of the Human Genome Project and an outspoken advocate of reconciling science with belief in Christianity.

He’s less known as a blogger, but he’s been posting fairly regularly for almost two years at directorsblog.nih.gov. Mostly he highlights new research into a wide range of topics: childhood asthma and teen depression, obesity and brain research, and, recently, the genomics of and potential vaccine against Ebola.

For the past few weeks, he’s also been posting a series of “Cool Videos,” drawn from a competition sponsored this summer by NIH. They’re short, usually funny, and comprehensible — to varying degrees — to the nonprofessional viewer.

Link to article and videos here.

via The Washington Post

Medical Labs Make Test Results Easier for Patients to Understand

As more patients gain direct access to lab reports and test results, health care providers are offering new tools to help them navigate the maze of numbers and use the data to better manage their own care.

Individual patients now can see their results on a wide variety of medical tests including complete blood counts, urinalysis and allergy tests, under a federal rule that went into effect in April and pre-empted a number of state laws prohibiting disclosure to individuals. The results must be available on request within 30 days, no physician's authorization required. Laboratories have until Oct. 6 to comply.

Quest Diagnostics, which provides diagnostic information services to about 30% of U.S. adults a year, launched a new secure patient website, MyQuest by Care360, when the federal rule went into effect on April 7. Patients can view their lab results on the site at no charge within 48 to 72 hours in most states, or get them on a recently enhanced mobile app.

Rather than showing patients copies of the raw lab reports typically sent to doctors, Quest now offers graphs and other visual depictions of results for common markers like cholesterol and blood sugar, putting them in relation to reference or normal ranges and including links to more detailed information.

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Originally published in The Wall Street Journal