From the category archives:

Diagnostics

New research may change the way we culture and treat infections. (Burkholderia cepacia complex, CDC/Wikimedia Commons)

New research may change the way we culture and treat infections. (Burkholderia cepacia complex, CDC/Wikimedia Commons)

Ed. note: A longer version of this story appeared on Harvard Medical School’s website.

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 »

Leave a comment

heart_screening cropped ShutterstockDespite recent national pediatric guidelines recommending identification and treatment of children with familial hypercholesterolemia, the use of lipid-lowering treatment has been flat over the past decade in real-world pediatric practice, finds a large multicenter study.

Justin Zachariah, MD, MPH, a pediatric cardiologist at Boston Children’s Hospital, presented the findings this week at the 2013 American Heart Association (AHA) Scientific Sessions. He believes they dispel some critiques of the recent guidelines, particularly concerns that more screening would result in overmedicating the pediatric population.

Extending beyond 2008 recommendations from the American Academy of Pediatrics, the 2011 National Heart, Lung and Blood Institute’s pediatric guidelines call for universal lipid screening and medical treatment for children at highest risk for early cardiovascular disease. One such high-risk condition is familial hypercholesterolemia, a genetic disorder characterized by high blood cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, or “bad” cholesterol) and early coronary events. Full story »

Leave a comment

shutterstock_141722230Do you have a fever?

Do you have a cough?

If you’re sitting at home with a sore throat, your answers to those two questions could be enough to tell whether you should see a doctor for a strep test, thanks to a new risk measure created by Kenneth Mandl, MD, MPH, and Andrew Fine, MD, MPH, at Boston Children’s Hospital.

Called a “home score,” the measure combines the two questions above, your age, and data on the level of strep activity in your geographic area. The basic idea is that your symptoms, plus the big picture of what’s happening in your neighborhood, is a strong enough predictor to for you to go to the doctor for a throat swab.

Thought it’s just a research tool for now, if it were it were packaged into an app and fed the right data (localized strep test results from a health center or medical testing company, for example), the home score could allow someone with a sore throat to make an informed decision about whether they should consider going to the doctor.

Full story »

Leave a comment

Three clinics are pre-testing children for genetic variants likely to affect their response to drugs.

Three clinics are pre-testing children for genetic variants likely to affect their response to drugs.

In 2009, The New England Journal of Medicine reported the case of an otherwise healthy 2-year-old boy in Canada who died after surgery. He had received a codeine dose in the recommended range, but an autopsy revealed that morphine (a product of codeine metabolism) had built up to toxic levels in his blood and likely depressed his breathing. Genetic profiling revealed him to be an “ultrarapid codeine metabolizer,” due to a genetic variation in an enzyme known as CYP2D6, part of the cytochrome P-450 family.

While codeine is no longer used at Boston Children’s Hospital, it’s this kind of genetic profiling that Shannon Manzi, PharmD, would someday like to offer to all patients—before a drug is prescribed.

Not all people respond the same way to drugs. The results of randomized clinical trials—considered the gold standard for drug testing—often produce a dose range that worked for the majority of the patients in the study. They don’t take people’s individuality into account, and that individuality can dramatically affect drug efficacy and toxicity.

Adverse reactions are more common than you might think. Full story »

Leave a comment

Primary care visit

Is universal cardiovascular screening supported by the data, and are clinicians ready?

In 2011, the National Heart, Lung, and Blood Institute (NHLBI) guidelines for cardiovascular risk reduction in pediatrics reinforced the recommendation that primary care pediatricians (PCPs) should screen children and adolescents for cholesterol and blood pressure elevations. However, as PCPs try to incorporate it into their well childcare routine, questions are being raised about the practical implications of implementing that recommendation.

Last month, the U.S. Preventive Services Task Force (USPSTF) published its finding that there is not enough evidence to recommend for or against routine screening for primary hypertension in asymptomatic children and teens, repeating its suggestions from 2003. It has issued similar statements about lipid screening.

At this week’s 2013 American Academy of Pediatrics (AAP) conference, Sarah de Ferranti, MD, MPH, director of the Preventive Cardiology Clinic at Boston Children’s Hospital, gave a presentation titled “Universal Lipid Screening: Are Pediatricians Doing It and How Is It Working?” She spoke with Vector about screening both for cholesterol and blood pressure in children. Full story »

Leave a comment

lightbulbs_together_shutterstock_80864542Hackathons are quickly growing beyond Red Bull- and Dorito-fueled code-fests into fertile grounds for new technologies and products that potentially could improve medicine and health care.

But beyond individual events, could hackathons signal the beginnings of a new ecosystem for medical innovation?

That’s what groups like MIT’s H@cking Medicine, Brigham and Women’s Hospital (BWH)’s new iHub and the New Media Medicine group at the MIT Media Lab are betting on. By tapping the same creative entrepreneurial energy that hackathon culture has brought to the technology industry, they believe they can fundamentally reimagine health care, one device, app and system at a time.

“The Boston area is the most fertile ground for medical innovation you could ever imagine,” says Michael Docktor, MD, a gastroenterologist at Boston Children’s and one of the organizers, with the H@cking Medicine team, of this weekend’s Hacking Pediatrics hackathon. “We need to make the case with the local medical and technology community that hackathons are a viable way of innovating in this day and age, that this is the way we ought to be innovating.” Full story »

Leave a comment

Abstract model of the genome morphing into human shape representing clinical genomics.The Human Genome Project’s push to completely sequence the human genome ran a tab of roughly $2.7 billion and required the efforts of 20 research centers around the world using rooms full of equipment.

But that was using technology from the 1990s to early-2000s. As by a panel of genomics experts from industry and academia pointed out at last week’s National Pediatric Innovation Summit + Awards, a scientist in a single laboratory today can sequence a genome for as little as $1,000, making sequencing almost a medical commodity.

Now what? How do we go about making clinical genomics an everyday thing? The discussion left the answer to that question—and the other questions it raises—unclear. While the panelists expressed excitement about what’s possible, they cited great uncertainty among doctors, scientists, patients, payers, companies and regulators about how to make clinical genomics work. Full story »

Leave a comment

Sleuthing out pediatric trendsIn Part 1 last week, Vector took a look at digital health apps, telemedicine, genomics, phenomics and new behavioral diagnostics as transformative trends in pediatrics. This week, we complete our list. These posts will also appear as an article in the fall issue of Children’s Hospitals Today magazine.

6. New pharma research and development (R&D) models

Academic medical centers have always worked with the pharmaceutical industry but never so closely as now. In the old model, industry drove therapeutic development. A company might fund an academic project or supply reagents, but the relationship generally ended with the project (and publication of a paper).

Now, with drug pipelines drying up and R&D costs rising, Big Pharma is under pressure to change. New industry-academia collaborations are forging creative partnerships, altering how both parties do business. The new models are allowing hospital researchers to do what they’ve never done before: take the lead in R&D. Full story »

Leave a comment

Girl looking in microscope-ShutterstockSince our “trends” posts at the top of the year are among our most viewed, Vector took time out this summer to take an interim snapshot of pediatric medicine’s cutting edge. Here we present, in no particular order, our first five picks. Check back next Friday for Part 2. If you want more, there’s still time to register for our National Pediatric Innovation Summit + Awards (September 26-27). The posts will also appear as an article in the fall issue of Children’s Hospitals Today magazine.

1. Digital health apps 2.0

The electronic revolution in health care continues. According to recent surveys, more than 90 percent of physicians have smartphones and more than 60 percent are using tablet devices like iPads for professional purposes. Dr. Eric Topol and others think these digital tools are the future of medicine.

Mobile apps keep proliferating, adding more and more features: high-quality image capture, voice-to-text capabilities and gaming techniques to motivate adherence, as well as sensors that gather physiologic data, like glucose levels and heart rate. Consumers are tracking and sharing data themselves, saving time in the clinic and helping physicians monitor their symptoms. Through the much-hyped Google Glass, it won’t be long before doctors can seamlessly call up patient data, look up a drug dosage and get decision support during a clinical visit without using a hand-held device.

One limiting factor in this “Wild West” scenario is the FDA’s ability to keep up with digital advances from a regulatory standpoint. Full story »

Leave a comment

kids hacking-shutterstock_58262788Michael Docktor, MD, is director of Clinical Mobile Solutions at Boston Children’s Hospital and a pediatric gastroenterologist with a research and clinical interest in inflammatory bowel disease. (See a recent interview with him on MedTech Boston.)

How do the most disruptive companies of our day like Facebook and Pinterest get started? In the warm glow of Silicon Valley, in the shadows of technology titans such as Apple and Google, bright, enthusiastic young entrepreneurs, programmers and designers get together to “hack” ideas for the next big thing. The concept is simple and has worked in tackling challenges from creating the next great social network to developing an innovative green-energy technology.

However, applying this model of collaborative, rapid problem-solving to pain points in health care is still a relatively novel concept. Hacking Medicine, a community of passionate “hackers” at the Massachusetts Institute of Technology (MIT), has brought this practice to medicine and successfully organized events from Uganda to Boston. Graduates of one recent event with AthenaHealth—which develops and sells cloud-based services for electronic health records, practice management and care coordination—are on their way to developing successful businesses, including PillPack (helping patients manage their medications), the BeTH Project (inexpensive adjustable prostheses) and Podimetrics (a data-transmitting shoe insole for diabetics). Full story »

Leave a comment