Expectation vs. reality: Rare disease parents’ mixed feelings about genetic research results

rare disease genetic resultsTypically, when you enroll in a study, it’s not with the expectation that you will receive results. In genomics studies, it’s becoming common to give families the option to get individual results — the newborn sequencing study, Baby Seq, is just one example — as an incentive to participate. Families of children with rare disease, especially undiagnosed illnesses, need no incentive: they’re desperate for answers.

But how do families actually feel once they get genetic results? We conducted interviews with nine rare disease parents (six mothers, three fathers) whose children were enrolled at the hospital’s Manton Center for Orphan Disease Research. What we found is more complexity than we expected.

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Making ‘simple’ heart surgery simpler, with minimally invasive techniques

minimally invasive heart surgeryTertiary care centers such as the Boston Children’s Hospital Heart Center have led the way in groundbreaking surgical innovations for years, pushing boundaries and correcting ever more complex abnormalities.

But innovation is also making a difference when it comes to more “common” procedures.

“We’re always trying to make the less complex procedures shorter and less invasive,” says Sitaram Emani, MD, director of the Complex Biventricular Repair Program at the Heart Center. “Making surgery and recovery less painful and disruptive for all of our patients is a priority.”

Emani and his fellow cardiac surgeons have pioneered a minimally-invasive “scope” approach, repairing a host of common problems normally requiring open-heart surgery — including ventricular septal defects, atrial septal defects, tetralogy of fallot, aortic valve defects, vascular rings and patent ductus arteriosis (PDA) — through small incisions.

The new method not only decreases pain discomfort, and scarring, but also gets patients in and out of the hospital in half the time.

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Science Seen: Poverty and accidental death, 1999-2012

Unintentional injuries are the fifth largest cause of death in the U.S., and these mortalities have been rising over the past decade. At the same time, more people are living in areas with high poverty levels. Are these trends connected?

An analysis published last week in PLOS One gives evidence that the answer is “yes.” Emergency medicine physician Eric Fleegler, MD, MPH, and colleagues crunched U.S. Census Bureau data against mortality data from the National Center for Health Statistics for 1999 to 2012 — providing resolution down to the county level.

Not only did fatalities increase in tandem with the level of poverty in a county, the study found, but this effect worsened over time, especially for deaths from certain causes such as poisonings, shown here. Read the details in our sister blog, Notes. (Interactive image: Erin Horan)

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Real-time influenza tracking with electronic health records

influenza tracking
Data captured from healthcare visits could be a tool for medical surveillance.

Early influenza detection and the ability to predict outbreaks are critical to public health. Reliable estimates of when influenza will peak can help drive proper timing of flu shots and prevent health systems from being blindsided by unexpected surges, as happened in the 2012-2013 flu season.

The Centers for Disease Control and Prevention collects accurate data, but with a time lag of one to two weeks. Google Flu Trends began offering real-time data in 2008, based on people’s Internet searches for flu-related terms. But it ultimately failed, at least in part because not everyone who searches “flu” is actually sick. As of last year, Google instead now sends its search data to scientists at the CDC, Columbia University and Boston Children’s Hospital.

Now, a Boston Children’s-led team demonstrates a more accurate way to pick up flu trends in near-real-time — at least a week ahead of the CDC — by harnessing data from electronic health records (EHRs).

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A vaccine of one’s own: Precision medicine comes to immunization

precision vaccines
When it comes to vaccines, one size doesn’t fit all, researchers are finding.

Once upon a time, an English country doctor forged a treatment out of cow pus. Edward Jenner squeezed fluid from a cowpox sore on a milkmaid’s hand, and with it, successfully inoculated an eight-year-old boy, protecting him from the related smallpox virus.

It was the world’s first successful vaccination and laid the foundation for modern vaccinology: researchers formulate vaccines from a dead or disabled microbe — or its virulent components — and people sigh with relief when they don’t succumb to the disease.

But investigators are now finding holes in traditional vaccine dogma. “Vaccines were developed under the assumption that one size fits all,” says Ofer Levy, MD, PhD, a physician-scientist in the Division of Infectious Diseases at Boston Children’s Hospital and director of the collaborative Precision Vaccines Program. “That you develop a vaccine and it will protect the same way whether the patient is young, middle aged or elderly; male or female; living in a city or rural environment; northern or southern hemisphere; whether given day or night; summer or winter.”

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DIY pain relief with light-activated local nerve blocks

light-activated liposomes
Injected, gold-coated liposomes could release painkillers on demand when heated with NIR light. (Shutterstock)

You’ve just had a root canal or knee surgery — both situations that will likely require some sort of local pain medication. But instead of taking a systemic narcotic with all its side effects, what if you could medicate only the part of your body that hurts, only when needed and only as much as necessary?

That concept is today’s reality in the laboratory of Daniel Kohane, MD, PhD, professor of anesthesia at Harvard Medical School and a senior associate in pediatric critical care at Boston Children’s Hospital.

The Kohane laboratory is developing a patient-triggered drug delivery system — but not a simple time-release mechanism or one tethered to ports or pumps. Instead, around the time of an intervention, pain medication would be injected into the site, or around a nerve leading to that site. Whenever pain relief is needed, the patient triggers release of the drug with a laser-like light-emitting device. “It’s like carrying the pharmacy in your body,” explains Kohane.

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StrabisPIX: Assessing strabismus from patients’ smartphone photos

strabismus smartphone
(Lapina/Shutterstock)

New smartphone-based diagnostic tools are enabling consumers to take their temperatures, diagnose simple skin conditions and much more. As advanced smartphone imaging puts more and more capabilities in patients’ hands, it’s no surprise that clinicians and numerous digital health startups are leveraging them.

As a case in point, the Department of Ophthalmology and the Innovation & Digital Health Accelerator (IDHA) at Boston Children’s Hospital have co-developed a smartphone application for patients with strabismus, or misalignment of the eyes, to securely capture and transmit photos of their eyes to their providers.

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Medicine meets theater: Pediatrics training, parent practice, device innovation ‘on location’

medical simulation

Pediatric medicine just took a step for the better in Boston’s Longwood Medical Area with a new, expanded pediatric Simulation (SIM) Center — a dedicated space where doctors, nurses and other staff can rehearse tough medical situations or practice tricky or rare procedures in a clinical setting that looks and feels real.

But clinicians aren’t the only ones who will be using the new 4,000-square-foot facility, which incorporates real medical equipment, set design and special effects.

Families can get hands-on practice with medical equipment they’ll be using at home. Inventors and “hackers” can develop and test new devices or software platforms and see how they perform in a life-like clinical environment. Planned hacks, for example, will explore different medical and surgical applications for voice-activated and gesture-controlled devices.

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Microbiome therapeutics: 6 takeaways from a MassBio panel

microbiome therapeuticsSeeing the surprising success of “poop pills” in gastrointestinal C. difficile infection, pharma companies and startups are embracing the microbiome as a new therapeutic target for an astonishing range of maladies. To learn what pioneering companies in the space are thinking about the hope and the hype, Vector recently attended a panel on microbiome therapeutics at the MassBio Annual Meeting.

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The face of telehealth: Serving children in health care “deserts”

pediatric telehealthAt least 15 million children reside in Health Professional Shortage Areas (HPSAs) that average fewer than one health professional for every 3,500 people. In these health care deserts, time and transportation barriers prevent even children with health insurance have trouble getting timely care, particularly specialty care. Children in poor, rural areas are most at risk.

So health problems fester and get worse — and more expensive when finally addressed.

Telehealth can solve many of these problems. Through remote video/voice/data connections, dermatologists can view images of rashes and moles sent by primary care providers; cardiologists can patch into local emergency rooms and listen to heart sounds and read EKG tracings; critical care physicians and neonatologists can see and hear newborns in distress, listen to lung sounds, read their vital signs and view images. They can advise local clinicians and guide them through next steps.

However, pediatric telehealth hasn’t been adopted as widely as it could be. A white paper presented by the Children’s Health Fund at a Congressional briefing last week enumerated the obstacles:

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