Want to hack something in medicine? Vendors are increasingly eager to contribute their tools to problem-solving teams, like those who will gather November 14 for Boston Children’s Hospital’s Hacking Pediatrics. Seeing an array of tools presented at a showcase at Boston Children’s last week, I felt excited about the possibilities ahead.
Here are a few tools that can help innovators improve health care for patients, caregivers and providers.
Neurons are more like snowflakes–no two alike–than anyone realized.
Walt Whitman’s famous line, “I am large, I contain multitudes,” has gained a new level of biological relevance in neuroscience.
As we grow, our brain cells develop different genomes from one another, according to new research from Harvard Medical School and Boston Children’s Hospital. The study, published last week in Science, provides the most definitive evidence yet that somatic (post-conception) mutations exist in significant numbers in the brains of healthy people—about 1,500 in each of the neurons they sampled.
The finding confirms previous suspicions and lays the foundation for exploring the role of these non-inherited mutations in human development and disease. Already, the researchers have found evidence that the mutations occur more often in the genes a neuron uses most. And they been able to trace brain-cell lineages based on mutation patterns.
“This work is a proof of principle that if we had unlimited resources, we could actually decode the whole pattern of development of the human brain,” says co-senior investigator Christopher Walsh, MD, PhD, the HMS Bullard Professor of Pediatrics and Neurology and chief of the Division of Genetics and Genomics at Boston Children’s. “These mutations are durable memory for where a cell came from and what it has been up to. I believe this method will also tell us a lot about healthy and unhealthy aging as well as what makes our brains different from those of other animals.”
In early 2014, controversy erupted when two papers in Nature indicated that exposing ordinary cells to stress—an acid bath or mechanical stress—could quickly and efficiently turn them into pluripotent stem cells, capable of developing into virtually all the tissues in the body.
The technique, called “stimulus-triggered acquisition of pluripotency,” or STAP, was lauded for its simplicity compared to other methods like nuclear transfer into egg cells or cellular reprogramming with a set of transcription factors.
Prospects are looking up for patients who have no explanation for their symptoms despite extensive investigations and testing. There’s a growing revolution in DNA diagnostics (see yesterday’s example) and ongoing work to bring clarity and meaning to sequencing data. Patients with similar symptoms can find each other like never before, and are increasingly empowered to lead in research and discovery.
Another small but important development was announced yesterday by the National Institutes of Health. The NIH’s Undiagnosed Diseases Network (UDN) has opened up a one-stop online portal called the UDN Gateway where patients and families can apply for access to expert team analysis and testing. (A referral letter from a provider is required.)
For children with complex medical needs, care coordination across medical specialties is a major pain point, as is communication across multiple provider systems. And patients aren’t the only ones feeling the burden. Consider these startling statistics:
$25-$45 billion is wasted annually in the U.S. due to poor communication in health care.
$45 billion has been invested in tools that record and bill for care, but don’t manage care.
The CLARITY Undiagnosed Challenge is heating up. Biomedical teams from seven countries are racing to interpret DNA sequences from five families affected with undiagnosed illnesses—some with gravely ill children, some already bereaved, all desperate for answers.
In July, the 26 competing teams received whole-genome and whole-exome sequence data from each patient and close family members, along with clinical notes and patient videos. Their reports, due September 21, will be judged by an independent panel based on:
the methods used to analyze and interpret the sequence data
the ability to synthesize the information
clinical usefulness, care recommendations and “next steps.”
Ken Mandl, MD, MPH, director of the Boston Children’s Hospital Computational Health Informatics Program, is used to seeing the world through a different lens. In high school, he began clicking photographs with his camera and developing them in a darkroom in his basement. Now, he frames subjects through the lens of epidemiology and informatics—driving discovery and care transformation through big data, apps and large-scale federated research networks.
Reports from parents and a growing number of studies over the past 10 to 15 years suggest that children with autism spectrum disorder (ASD), especially more severe ASD, are prone to gastrointestinal disorders. Researchers have attributed the association to altered GI microbiota, abnormal intestinal physiology, immune alterations and other mechanisms. Some speculate that the connection results from unusual eating patterns in children with ASD.
Looking at IBD (Crohn’s and colitis) sets the bar a little higher, since IBD is uncommon and also unlikely to be caused by dietary factors (though it can certainly be aggravated by them). In a new study in the journal Inflammatory Bowel Disease, Kohane and colleagues crunched three large databases to create what they believe is the largest ASD/IBD study to date.
Hospitals are among the most hazardous workplaces in the U.S. In 2011, according to the Occupational Safety and Health Administration, 253,700 accidents were reported, an average of 6.8 work-related injuries for every 100 full-time employees. Rates of injuries reported to OSHA are decreasing in all industries except for hospitals, whose rates are double the average.
Could a set of digital apps help identify and reduce occupational and environmental risks in a quick and efficient manner? That is what Nick Kielbania, MS, CSP, CHMM, director of Environmental Health & Safety (EH&S) and Adrian Hudson, PhD, MCompSc, principal software architect at Boston Children’s Hospital, set out to create.
Their web-based solution, enabled for Apple and Android devices, is called the BCH Environmental Health and Safety Application Suite. Designed to aid hospital emergency response, safety and support services, the applications encompass fire, clinical, research, construction and environmental safety, with additional apps for on-call and administrative personnel.
Ideally, we’re all supposed to see our doctor once a year for a checkup. It’s an opportunity to see how we’re doing from a health perspective, address any concerns or issues that we may have and catch any emerging issues before they become true problems.
But those visits are really only one-time, infrequent snapshots of health. They don’t give a full view of how we’re doing or feeling.
Now, think for a moment about how often you post something to Facebook or Twitter. Do you post anything about whether you’re feeling ill or down, or haven’t slept well? Ever share how far you ran, the route you biked or your number of steps for the day?
Every time you do, you’re creating a data point—another snapshot—about your health. Put those data points together, and what starts to emerge is a rich view of your health, much richer than one based on the records of your occasional medical visit.