Since 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. Another is the capacity of electronic health records (EHR) systems to take in and use all this information. The pace is starting to pick up now that the Patient Protection and Affordable Care Act (a.k.a. health care reform) has put the onus on health information technology (IT) to become more nimble. Prizes, incubator companies for entrepreneurs and programs like SMART (funded by the Health and Human Services Office of the National Coordinator for Health IT) are encouraging the development of apps that can be used within any health IT system. Eventually, secure health data may live in the “cloud,” to be extracted by any number of apps.
Once the regulatory and EHR hurdles are tackled, expect to see increasingly sophisticated apps and sensors able to diagnose an infection, detect sleep apnea, monitor blood levels of a drug, detect seizure activity or track heart rate touch-free in a fragile preemie. One startup has developed a smart diaper that can pick up urinary tract infections, dehydration and more and transmit that data to the physician.
Whether via iPad, web platform, smartphone, home robots or even simple texting, telemedicine is altering the nature of the medical encounter by involving patients as partners in their care, getting a specialist’s opinion in real time and improving post-discharge follow-up.
A study from Cincinnati Children's Hospital Medical Center, published this June in Pediatrics, highlights the potential of telemedicine in communicating with underserved, hard-to-reach urban populations: in a survey, 80 percent of urban caregivers reported having Internet access at home, and 71 percent said they had a smartphone. Miami Children’s Hospital’s Telehealth Center has a global reach, providing physicians outside the United States with access to its pediatric subspecialist physicians and to remote readings of diagnostic tests. Boston Children’s recently launched Open Pediatrics platform takes interactive training in clinical care to countries all over the world. Rural telemedicine systems are hotbeds of innovation. In remote parts of Alaska, telemedicine carts loaded with medical instruments that gather, store and forward patient data to a hospital in Anchorage have paid for themselves ten times over.
Reimbursement for telehealth services is starting to pick up with the advent of accountable care organizations and global payment systems of various kinds and as metrics start to demonstrate the programs’ benefits. Most states now provide some form of Medicaid reimbursement though coverage and payment structures vary. Medicare covers interactive video visits that involve direct contact with patients, and additional services in rural or underserved areas. In 19 states, private insurers are required to reimburse for telehealth (go here for the current version of this map):
In the meantime, other creative payment structures are possible. Boston Children’s Hospital has begun offering telemedicine screenings for retinopathy of prematurity (ROP) to community neonatal intensive care units (NICUs) under an annual contract. The system solves a big problem for the network hospitals: a shortage of community ophthalmologists willing to do ROP screenings. Now, NICU nurses take direct images of the retina with a special camera. Boston Children’s ophthalmologists then read these images on their computers or even iPhones.
3. Genomic sequencing enters the clinic
In 2000, the completion of the Human Genome Project promised to transform medicine. Soon after came the promise of the $1,000 genome—one not yet fulfilled at this writing. In January 2013, a $10 million competition aimed to finally get the job done, but by late May, only two teams had entered, others apparently finding the task too daunting. Nonetheless, sequencing costs and speed have entered the range where sequencing is being introduced into clinical practice—particularly at children’s hospitals—and yielding some actionable results. This is especially true for whole-exome sequencing, a more cost-effective approach that sequences only the genes that code for proteins.
At Children’s Mercy Hospital (Kansas City), for example, a technology called StatSeq is helping clinicians obtain genetic diagnoses in acutely ill newborns within as little as 50 hours. It runs patients’ genes through a high-speed sequencer developed by Illumina Inc., cross-referencing the readout against a database of known genetic disease mutations. The Children’s Hospital of Philadelphia, in partnership with BGI-Shenzhen (Beijing), is sequencing pediatric brain tumors to support the development of personalized therapies. And the Children's Hospital of Wisconsin (Milwaukee) has formed a sequencing clinic for children with undiagnosed illnesses.
Focus has now shifted to how to handle and interpret the flood of genomic information, and how to communicate it to physicians and patients. As a result, genetic counselors are in high demand. Starting in early 2014, a five-year, $6 million randomized trial at Boston Children’s Hospital and Brigham and Women’s Hospital will evaluate the medical, psychosocial and economic outcomes of genomic sequencing of newborns as compared with conventional state-mandated newborn screening. Boston Children’s also ran a challenge last year called CLARITY, with two children’s hospitals among the 23 participants. Insights from the challenge have been submitted for publication. The hospital also has spun off a clinical genomics company, Claritas, to handle sequencing and genetic diagnostic needs at the hospital and beyond.
4. Phenomics arrives as a science
Another outcome of the Human Genome Project is the realization that discovery of new disease genes is far outpacing scientists’ understanding of what those genes actually do. A mutation of any given gene can have widely variable effects, depending on the specific size and location of the stretch of DNA that’s altered. Moreover, not everyone with a mutation linked to a disease actually develops that disease.
That’s given rise to phenomics, the use of large-scale, high-throughput assays and bioinformatics approaches to investigate how genetic instructions actually translate into tangible phenotypic traits—anything from levels of a metabolite or signaling molecule to tissue characteristics to behavioral attributes. Many research centers are creating core facilities to systematize such discovery, such as zebrafish facilities and mouse neurobehavioral cores, in which the effects of disease-causing mutations can be systematically studied.
Part of the challenge of phenomics, especially in humans, is distilling complex disorders into specific, objective characteristics that can be catalogued and cross-referenced against genetic data. Phenomics is increasing awareness that disorders once considered monolithic might actually be a collection of sub-disorders, which may need to be approached differently. Recent discoveries, for example, have identified multiple phenotypes in asthma and given rise to the concept of “the autisms.” Adding a further level of complication, environmental factors often influence how one’s genetic code actually plays out.
5. Timely diagnoses for behavioral disorders
Neuroscience confirms that early intervention is crucial for children with behavioral and learning disorders: It can help rewire young children’s more changeable brain circuitry, perhaps sparing children with conditions like dyslexia and attention deficit hyperactivity disorder (ADHD) from frustration and social isolation once they start going to school.
Unfortunately, these disorders are hard to spot early through behavioral criteria. Autism can’t reliably be diagnosed before 18 months of age; dyslexia generally doesn’t become apparent until kindergarten or later; and behavioral criteria for ADHD are unreliable before age 8 or 9—even as the American Academy of Pediatrics suggests considering drug treatment for ADHD as early as age 4.
But what if there were an objective, unbiased test for these disorders? Recent years have seen exciting steps in this direction. Functional magnetic resonance imaging (fMRI) studies at Boston Children’s have revealed structural brain differences in 5- and 6-year-olds with a family history of dyslexia—even before children start learning to read. Electroencephalograms (EEGs) coupled with machine-learning algorithms can distinguish infants at high risk for autism from controls with 80 percent accuracy — at as young as 9 months of age. An ongoing study is comparing EEG activity and metabolic activity on fMRI in 3- to 7-year-olds with and without ADHD.
A company called SynapDx recently announced a clinical trial of a blood test for autism based on “signatures” of gene activity. Boston Children’s Hospital, Texas Children’s Hospital, Cincinnati Children’s Hospital, Children’s Hospital of Philadelphia, Seattle Children’s Hospital, Nationwide Children’s Hospital and Riley Children’s Hospital (Indianapolis) are among the 20 centers recruiting patients.
This 2-part series continues next Friday, September 20, discussing new pharma R&D models, innovation in healthcare reform, patient engagement, the 3D printing revolution and insights from rare diseases.