cancer genomicsIn 2012, Boston Children’s Hospital held the international CLARITY Challenge—an invitation to interpret genomic sequence data from three children with rare diseases and provide a meaningful, actionable report for clinicians and families. (Click for more background on the children, findings and winners.)

The full proceedings, published March 25 in Genome Biology, concluded that while the technical approaches were markedly similar from center to center, the costs, efficiency and scalability were not. Most variable, and most in need of future work, was the quality of the clinical reporting and patient consenting process. The exercise also underscored the need for medical expertise to bring meaning to the genomic data.

That was CLARITY 1. CLARITY 2, focusing on cancer genomics in children, promises to be exponentially more complex. Full story »

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A clinician's-eye view of a patient with spinal muscular atrophy during a telemedicine visit.

A clinician's-eye view of a patient with spinal muscular atrophy during a telemedicine visit.

The jury is still out on telemedicine. Proponents and many patients appreciate its ability to deliver virtual patient care and to extend the reach of experts beyond the brick-and-mortar setting of a hospital. But the real question about telemedicine is: Does it make it difference? Does is it improve care and if so, in what circumstances?

TeleCAPE, a small pilot project at Boston Children’s Hospital, inches the dial toward “yes” for some patients—in particular, home-ventilated patients.

Home-ventilated patients require an inordinate amount of health care resources for even minor conditions. Costs for a simple urinary tract or viral respiratory infection that might be managed without hospitalization can reach up to $83,000 because the child’s complex medical needs require ICU admission. Full story »

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superamma

Judith Palfrey, MD, is director of the Global Pediatrics Program in the Department of Medicine at Boston Children’s Hospital.

Diarrhea is a bigger global killer than HIV and malaria combined. It accounts for more than 800,000 deaths each year among children 0-5 years. And how tragic this is when the simple intervention of hand washing can prevent some of these deaths. Results of a trial, published in the March edition of The Lancet Global Health, indicate that teaching families in under-resourced areas of the world about hand washing is not only possible but also scalable, sustainable and successful—if it’s done the right way.

Hand washing is a simple intervention, but the prevalence of the behavior is as low as 1 to 2 percent in some under-resourced global settings. A London School of Hygiene and Tropical Medicine group, led by Adam Biran, PhD, decided to try to improve these statistics by devising an effective intervention.

However, the route to simple solutions is often complex. The researchers used very sophisticated methodology to identify the levers of behavioral change. They realized that health messages about hand washing have not worked. The idea that what I do today may prevent diarrhea down the road just did not have enough oomph to motivate people to adopt a new routine.

The researchers hypothesized that emotional drivers (including nurture, status, disgust and belonging) would be strong pushes to get families to wash their hands. And they were right. Full story »

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CatScan-00663

Robert MacDougall is clinical medical physicist for Boston Children’s Hospital Department of Radiology. Michael Callahan, MD, is a radiologist in Boston Children’s Department of Radiology and a member of the steering committee for the Alliance for Radiation Safety in Pediatric Imaging.

A recent opinion piece published in the New York Times, titled “We Are Giving Ourselves Cancer” (Op-Ed, Jan. 31), has provoked fear and anxiety in patients and parents over the use of computed tomography (CT) scans. This op-ed is the latest in a series of lay press articles to focus on the potential harm of radiation in medical imaging.

While the authors raise several important points, they fail to provide context and acknowledge the benefits of CT imaging, including the elimination of many unnecessary surgeries and improved diagnosis of cancer and other serious health conditions. This unbalanced view potentially presents a real and immediate risk to patients, who may forego CT exams that could improve their care because of concerns related to radiation exposure.

The relationship between cancer risk and radiation exposure is not well understood. Estimation of future cancers in a large population is not based on sound science: The principal data source—studies of survivors of the atomic bomb explosions in Japan—does not translate well to medical radiation and can be misused to create sensationalistic estimates of future cancer incidence and deaths.

In a policy statement, the American Association of Physicists in Medicine explains: “Discussion of risks related to radiation dose from medical imaging procedures should always be accompanied by acknowledgement of the potential benefits the procedure provides. Risks of medical imaging at effective doses below 50 mSv for single procedures … are too low to be detectable and may be nonexistent.” The vast majority of routine CT scans fall well below this level.

Nonetheless, once an exam is ordered, it must be performed in the safest way possible. Full story »

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The platelet whisperers

by Tom Ulrich on March 27, 2014

Finding the switch that gets megakaryocytes to produce platelets

To manufacture platelets in the laboratory, we need to find the switch that starts their production.

Looking down at my bandaged finger—a souvenir of a kitchen accident a few nights prior—Joseph Italiano, PhD, smiles and says to me, “You should have come by, we could’ve given you some platelets for that.”

The problem is that Italiano really couldn’t; he needs every platelet his lab can put its hands on. A platelet biologist in Boston Children’s Hospital’s Vascular Biology Program, Italiano is trying to find ways to manufacture platelets at a clinically useful scale.

To do that, he needs to develop a deep understanding of the science of how the body produces platelets, something that no one has at the moment.

The path by which blood stem cells develop into megakaryocytes—the bone marrow cells that produce and release platelets into the bloodstream—is already known, Italiano says. We also know that platelets are essentially fragments of megakaryocytes that break off in response to some signal.

But that’s where our knowledge of platelet production largely ends. “Megakaryocytes themselves are something of a black box,” Italiano explains. “If you microinject the cytoplasm of an active megakaryocyte into a resting megakaryocyte, it will start to produce platelets as well. But we don’t know what factor or factors cause them to start platelet production.”

As Italiano and his laboratory peer into that black box, they know the stakes are big. Because in the end, they want to greatly reduce doctors’ and patients’ dependence on donated platelets. Full story »

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MRI images showing isotropic diffusion in autism

A new MRI computational technology (above right) captures differences in water diffusion in the brain across a population of children with autism as compared with controls. This non-directional, “isotropic” diffusion pattern, not evident with conventional diffusion tensor imaging (DTI), may be an indicator of brain inflammation.

Diffusion tensor imaging (DTI), a form of magnetic resonance imaging, has become popular in neuroscience. By analyzing the direction of water diffusion in the brain, it can reveal the organization of bundles of nerve fibers, or axons, and how they connect—providing insight on conditions such as autism.

But conventional DTI has its limits. For example, when fibers cross, DTI can’t accurately analyze the signal: the different directions of water flow effectively cancel each other out. Given that an estimated 60 to 90 percent of voxels (cubic-millimeter sections of brain tissue) contain more than one fiber bundle, this isn’t a minor problem. In addition, conventional DTI can’t interpret water flow that lacks directionality, such as that within the brain’s abundant glial cells or the freely diffusing water that results from inflammation—so misses part of the story. Full story »

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3D printed plastic model of a patient's skull John Meara craniofacial anomaliesA picture may be worth a thousand words, but there’s something about holding an object in your hands that’s worth so much more. I realized this when John Meara, MD, DMD, handed me the skull of one of his patients.

I turned it over in my hands while Meara, Boston Children’s Hospital’s plastic surgeon-in-chief, pointed out features like the cranium’s asymmetric shape and the face’s malformed left orbit.

Mind you, it wasn’t actually Meara’s patient’s skull in my hands. In reality, I was holding a high-resolution, plastic 3D model printed from the patient’s CT scans.

The printer that made that model—and several other models I saw in the last month—is the centerpiece of a new in-house 3D printing service being built by Peter Weinstock, MD, PhD, and Boston Children’s Simulator Program.

3D printing technology has exploded in the last few years, to the point where anyone can buy a 3D printer like the MakerBot for a couple of thousand dollars or order 3D printed products from services like Shapeways. Adobe even recently added 3D printing support to Photoshop.

And 3D printing is already making a mark on medicine. Full story »

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heavy child running ShutterstockSchools have manned the front lines in the battle against childhood obesity. Through the Healthy, Hunger-Free Kids Act of 2010, First Lady Michelle Obama has promoted low-cal lunches, fresh produce and more. Now, she hopes to ban junk food and soda marketing in schools.

Are these efforts enough to turn the tide? Offering healthy foods and promoting physical activity at school may not be enough to negate the impact of other unhealthy influences in students’ homes and neighborhoods, according to Tracy Richmond, MD, MPH, of Boston Children’s Hospital’s Division of Adolescent Medicine.

Richmond recently published a study in PLOS One that looked at how a school’s physical activity or nutrition resources might influence fifth grade students’ body mass index (BMI).

The study focused on 4,387 students in Birmingham, Ala., Los Angeles and Houston. “We wanted to find out if certain schools look ‘heavier’ because of their composition—meaning that kids at higher risk of obesity, like African American girls or Hispanic boys, cluster within certain schools—or whether something structural in the school influences BMI, like the facilities or programs offered,” explains Richmond. Full story »

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Group handshake representing a consortiumDavid Altman is manager of marketing and communications in Boston Children’s Hospital’s Technology and Innovation Development Office.

Successful therapeutic development requires multiple stakeholders along the path from discovery to translation to clinical trials to FDA approval to market availability. At various points along this path, academia, industry, government, hospitals, nonprofits and philanthropists may work together. Would bringing these stakeholders together from start to finish lead to greater success?

A growing number of private-public consortia are launching in defined “pre-competitive” spaces where potential rivals collaborate to generate tools and data to accelerate biomedical research. In 1995, consortia were rare in health care: Only one was created. In 2012, 51 new consortia were launched, according to the organization Faster Cures.

Why? you may ask. Banding together in consortia can reduce costs, minimize failures and shorten the timeline to approval for new drugs. Full story »

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metaphor for investors "shark tank"If you’ve ever watched Shark Tank, you’ve gotten a taste of venture capitalists’ (VC) innate skepticism and hard-nosed ability to triage ideas. A recent webinar hosted by Cambridge Healthtech Associates offered a good practical “101” for scientists, inventors and clinical innovators—which we’ve distilled into the six tips below.

1.  Find the pain.

VCs will want to know what “pain points” you are solving—the burning need or unpleasant thing a customer wants to avoid or fix right now. In health care, this could be the need for a more definitive diagnostic test or a cost-saving option, or, for the pharmaceutical industry, the need to reduce R&D costs by finding a better way to pick compounds to take to clinical trial. Full story »

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