In 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 »
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 »
Israel Green-Hopkins, MD, is a second-year fellow in Pediatric Emergency Medicine at Boston Children’s Hospital and a fierce advocate for innovation in health information technology, with a passion for design, mobile health, remote monitoring and more. Follow him on Twitter @israel_md.
A few months ago, I spent 15 minutes filling out a detailed health data form at the doctor’s office. The paper form contained multiple questions about my health, family history, medications and basic demographic information. I assumed that an administrative specialist would code it into the practice’s electronic medical record (EMR) to be put to use. So it came as a surprise when I spent another 5 minutes reviewing the form with my physician, who then proceeded to type this information into the EMR herself. I’m confident neither my physician nor I felt enabled by the experience.
Countless people have had a similar experience—or worse, filled out a form with no sign that any clinician ever saw the information. Though the industry has made outstanding progress in adopting EMRs, the practice of data acquisition from patients remains cloudy. Patient-generated health data (PGHD), a term encompassing all forms of data that patients provide on their own, is a relatively new concept in health care. It falls into two broad groups: historical data and biometric data. Full story »
Alexandra Pelletier is the Digital Health Program Manager in the Innovation Acceleration Program at Boston Children’s Hospital. She manages the FastTrack Innovation in Technology Award, an initiative to accelerate, rapidly develop and deliver innovative clinical software solutions to improve patient experience and operational efficiency.
When the largest and most innovative technology companies in the world invest, radical disruption follows. Google and Apple, multibillion-dollar companies operating across the globe, are already deeply embedded into most of our lives. They now want to bring their network and reach to health care.
Their new investments could completely transform how patient data are captured and how information is shared. Through their big data capabilities, they’re well placed to rapidly evolve health care delivery processes. In the very near future, I expect we will see connected sensors or “smart” devices of all kinds begin to integrate into our lives, weaving a web of quantified data into actionable health information and changing how patient and care providers engage together.
Consider some recent events. First, there was Google’s buzz-generating meeting with the FDA. Full story »
A flu virus. (CDC)
Disease surveillance has long been the purview of state public health departments, the U.S. Centers for Disease Control and Prevention (CDC) and other agencies that collect reports from doctors, clinics and laboratories.
That disease control model is being turned on its head by projects like Boston Children’s Hospital’s HealthMap, which scours the web for information related to disease outbreaks. HealthMap’s Flu Near You goes a step further by encouraging people to report their own flu-related symptoms and help track flu emergence and spread.
To date, though, efforts like these have been limited to the digital sphere—part of the growing field of digital epidemiology. They don’t rely on blood, spit and mucus to get their data—it’s all in bits and based solely on symptoms.
But even that is changing, thanks to a new Flu Near You initiative called GoViral. GoViral brings everyone directly into the flu surveillance process by allowing them to not just report how they’re feeling, but to test themselves for flu at home and submit their results. Full story »
As recently as 2005, Boston Children’s Hospital’s Department of Radiology performed 25 to 30 CT studies daily to check ventricular shunts–devices placed in children with hydrocephalus and other conditions to drain fluid from the brain’s ventricles. Today, the volume of these CT scans has fallen to one exam every few days. Richard Robertson, MD, radiologist-in-chief at Boston Children’s, thinks this 77 percent drop is great news.
Neuro-imaging exams are essential for children with ventricular shunts presenting with new neurologic symptoms to help determine whether the shunt is working properly or has become blocked or disconnected. “Kids who have shunt catheters can have a large number of CT studies, in some patients up to 50 or 60 over their lifetimes. A child with an infection or shunt malfunction may have many studies even in a single month,” says Robertson.
Although the exams are necessary, exposure to ionizing radiation from even a single CT exam carries a slightly increased risk for cancer that rises with each subsequent exam. There is no known threshold below which exposure is considered safe.
During the 2005 meeting of the American Society of Neuroradiology, one of Robertson’s colleagues gave a presentation about single-slice acquisition MRI, a limited, two-minute exam that provides the basic information needed to assess the size of the cerebral ventricles. Full story »
Shawn Farrell, MBA, is Telemedicine and Telehealth Program Manager at Boston Children’s Hospital.
The TeleDactyl, as depicted on the cover of Science and Invention magazine in 1925.
Back in the 1920s, when medicine was more an art than a science and doctors made home visits, a publishing and radio pioneer named Hugo Gernsback predicted the future of telehealth. As described on Smithsonian.com, he wrote of a device called the TeleDactyl: “a future instrument by which it will be possible for us to ‘feel at a distance’”—dactyl, from the Greek, meaning finger.
Since that time, the practice of medicine has changed dramatically. Our understanding of the human body has advanced beyond our wildest dreams, producing drugs, devices and procedures that have made hospitals a place for healing and curing. At the same time, home visits were abandoned in favor of the office visit, making doctors more efficient. Almost 100 years later, several converging forces are making the home visit popular again, increasing the likelihood of seeing Gernsback’s vision become a reality.
The rollout of the Affordable Care Act, which will add millions of new patients to the health care system, comes at the same time that we have a shortage of primary care doctors, specialists and other care providers. Full story »
Alal Eran, PhD, studies the molecular basis of autism at Boston Children’s Hospital and Harvard Medical School.
An 'Information Commons' could better delineate the different faces of ASD by combining objective molecular, biochemical and neurological measures.
Yet another redefinition of autism spectrum disorder (ASD) has stirred up debate. The new Diagnostic and Statistical Manual of Mental Disorders (DSM-5) now collapses four previously distinct conditions—autistic disorder, Asperger syndrome, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified—under one umbrella label of ASD. It also collapses the traditional autistic triad (social deficits, communication impairments and restricted interests/behaviors) into two domains: social/communication deficits and restricted interests/behaviors.
While intended to increase accuracy and utility, the new diagnostic criteria for autism—the fifth revision since 1980—have attracted an unprecedented level of criticism by clinicians, researchers and families. The criteria for membership in DSM categories are much less robust than those for other clinical classification schemes—as evidenced by the rapid change in the DSM over the last 50 years. But more importantly, they are based only on behavioral symptoms. Full story »
2013 saw an accelerated crumbling of borders and boundaries in health care, fueled by technological and scientific advances. Boundaries between high-tech Western medicine and global health practices have begun blurring in interesting ways, as are those between home and hospital, patient and doctor and even a patient’s own body and the treatment used for her disease.
Last year also saw a fierce political fight over the Affordable Care Act (ACA)—aka Obamacare—ending in some six million people crossing the boundary from uninsured to insured, according to HMS, if you count Medicaid and Children’s Health Insurance Program eligibles.
What does all this portend for 2014? This year, Vector asked leaders from all walks of life at Boston Children’s Hospital to weigh in with their predictions. Full story »
Ed. note: A longer version of this story appeared on Harvard Medical School’s website.
New research may change the way we culture and treat infections. (Burkholderia cepacia complex, CDC/Wikimedia Commons)
A boy with cystic fibrosis develops a potentially deadly Burkholderia dolosa infection in his lungs. Various genetic mutations allow some bacterial strains to survive assaults from his immune system and antibiotics, while others perish. Eventually, the strongest mutant dominates the B. dolosa colony.
Right? Maybe not, say the authors of a new study. Examining sputum samples from infected patients, they found that dozens of different kinds of B. dolosa may coexist in that boy’s lungs—each adapting and surviving in different ways. The findings, published last month in Nature Genetics, warn of possible shortfalls in the way infections are currently cultured and treated.
“We found that when a pathogen like B. dolosa infects us, it diversifies. Many cells discover ways to survive, and these successful mutants coexist,” says senior author Roy Kishony, PhD, professor of systems biology at Harvard Medical School. Full story »