Internet of DNA (MIT Technology Review)
Emerging projects in Toronta, Santa Cruz and elsewhere are working toward being able compare DNA from sick people around the world via the Internet to identify hard-to-spot causes of disease—analogous to using the “Compare documents” function in Word.
Engineering the perfect baby (MIT Technology Review)
Since the birth of genetic engineering, people have worried about designer babies. Now, with gene editing and CRISPR, they might really be possible. Bioethicists and scientists weigh in on what “germ line engineering” would mean.
Patrice Milos, PhD, is president and CEO of Claritas Genomics, a CLIA-certified genetic diagnostic testing company spun off from Boston Children’s Hospital in 2013.
A child is sick, showing symptoms her parents cannot identify. Something is seriously wrong, but what? The family turns to Boston Children’s Hospital for answers. Yet, even with today’s medical advances, a precise diagnosis often remains elusive.
The Human Genome Project has sparked innovation over the last 14 years, and as President Obama’s Precision Medicine Initiative asserts, today genome science offers patients new hope for answers.
Initially, cancer will be the major medical focus of this initiative, as cancer is a genetic disease—a genomic alternation of the patient’s normal tissue DNA.
Vector’s picks of recent pediatric healthcare, science and innovation news.
Encryption wouldn’t have stopped Anthem’s data breach(MIT Technology Review) Hackers got their hands on the personal information and Social Security numbers of 80 million people when they broke into the network of health insurer Anthem health. But encryption alone wouldn’t have been enough to keep those data safe.
Vector’s pick of recent pediatric healthcare, science and innovation news.
The problem with precision medicine(The New Yorker)
President Obama’s recently announced plan to invest $215 million in precision medicine – which uses DNA testing to personalize medical care- has many in the medical community cheering. Others, however, are concerned that DNA sequencing is still far from optimized and many of the best doctors remain unfamiliar with how to appropriately integrate genetic results into their care plans.
Schools may solve the anti-vaccine parenting deadlock(The Atlantic)
The recent outbreak of measles in the U.S. shed light on the growing number of parents “opting out” of vaccinating their kids. Public schools are fighting anti-vaxxers in the courts- and precedent is on their side.
Judy Wang, MS, is a program manager in the Telehealth Program at Boston Children’s Hospital.
A major theme at Taking on Tomorrow 2014 was the difficulty in making the business case for innovation in pediatrics, since the market size is small relative to the adult market. Muna AbdulRaqqaq Tahlak, MD, CEO of Latifa Hospital in Dubai, was among many who urged innovators to collaborate and aggregate their data to make the most impact.
It’s in that spirit that the upcoming Impact Pediatric Health Startup Pitch Competition (March 16) was born. Hosted by organizers of the South by Southwest Interactive (SXSWi) conference in Austin and the four top pediatric hospitals in the country—Boston Children’s, Cincinnati Children’s, Texas Children’s and Children’s Hospital of Philadelphia—the event will identify the most promising digital health and medical device innovations for pediatrics.
A Bluetooth pacifier that takes a baby’s temperature. An iPhone otoscope. A smart yoga mat. And health & fitness trackers out the wazoo. That’s just a small sampling of the health-related technologies showcased at last week’s Consumer Electronics Show (or CES).
The Las Vegas-based annual trade fair, a weeklong playdate for gadgetphiles, largely focuses on TVs, computers, cameras, entertainment and mobile gear. This year it also had a robust health and biotech presence, with more than 300 health and biotech exhibitors.
“I witnessed literally hundreds of companies all vying for the wrists and attention of users,” Michael Docktor, MD, Boston Children’s Hospital’s clinical director of innovation and director of clinical mobile solutions, wrote on BetaBoston. “For me, it was a chance to see where medicine and health care are headed.”
Plastic surgeon John Meara, MD, and neurosurgeon Mark Proctor, MD, in the Craniofacial Anomalies Program at Boston Children’s Hospital are early adopters of 3D printing technology. They put it to good use in caring for Violet, a buoyant toddler who was diagnosed before birth with a rare, complicated skull and facial defect. Using CT images, and with the help of the hospital’s Simulator Program, they were able to build a series of plastic 3D models of Violet’s skull and rehearse her surgery—months before Violet arrived from Oregon.
“I actually feel like I know her, because I’ve seen that model change and grow over the last several months,” said Meara just before the surgery. “We can see and feel the trajectory of where we will have to make certain cuts, and that’s never been possible before.”
“Genome” has been the biggest word in cancer research in the last decade. Thanks largely to the high throughput and relatively low cost of “next generation” DNA-sequencing technologies, researchers have screened thousands of tumors for gene mutations that could explain their malignant properties and reveal possible treatment targets.
Sequencing of adult tumors has revealed a broad spectrum of cancer-causing gene mutations. Childhood tumors, by contrast, have turned out to be relatively simple from a genomic point of view. By and large, they harbor few mutations in genes that code for relatively “druggable” targets with discrete effects, like kinases.
Rodriguez-Galindo is not alone in this view. There is a trend afoot in pediatric cancer research: the study of gene regulation and epigenetics is beginning to overshadow classic tumor genetics and genomics.
Children’s hospitals face the challenges of a relatively small patient population, regulatory barriers and care outcomes that may not be measurable for decades. But challenges also bring opportunities. This fall 2014 panel, hosted by Children’s Hospital Association President and CEO Mark Wietecha, gathered CEOs from some of the world’s most respected pediatric hospitals:
The traditional model of health care has always been pretty linear: 1) observe your symptoms; 2) schedule a visit with your doctor; 3) meet with your doctor, answer questions, possibly have bloodwork or other testing; 4) follow your doctor’s advice.
But what if by the time you see the doctor, it’s too late to head off a serious medical problem? What if your doctor orders a blood test, but the closest lab is a 45-minute bus ride away, will charge a significant co-pay and closes at 5 p.m.?
The biomedical technology company Theranos has set out to upend this traditional model, simplifying the blood-testing process and giving individuals more control. The company’s goal is to establish wellness centers within five miles of every American, where anyone can order from a menu of blood tests with or without a doctor’s order. Walgreens already has 21 operating centers.