Top 10 science and innovation trends for 2013

by Vector staff on January 16, 2013

(Garry Knight/Flickr)

Vector has been deliberating about its predictions for 2013, consulting its many informants. Here’s where we’re putting our money this year; if you have other ideas, scroll to the bottom and let us know.

Genome sequencing scaling up at health care institutions

Last year we predicted genome sequencing’s entry into the clinic; this could be the year it goes viral. Technology companies with ever-faster sequencers and academic medical centers are teaming up at a brisk pace to offer genomic tests to patients. Just in the past two weeks, a deal was announced between The Children’s Hospital of Philadelphia and BGI-Shenzhen to sequence pediatric brain tumors; Partners HealthCare and Illumina Inc. announced a network of genomic testing laboratories; and Boston Children’s Hospital and Life Technologies Corp. announced a full-service spinoff company called Claritas Genomics, offering expert interpretation of sequence results.

One thing’s virtually certain: an uptick in demand for genetic counselors, who’ll be needed to explain complicated sequencing results to families.  As Boston Children’s learned through its CLARITY contest this year, best practices for clinically useful genomic sequencing are just beginning to coalesce.  Expect more later this year when we publish CLARITY’s findings. —Nancy Fliesler

(LeRoy Sanchez/Wikimedia Commons)

Bigger and bigger data

As computing costs continue to shrink and data availability grows—along with the ability to parse, analyze and report it—Big Data will increasingly drive healthcare and medicine to become more standardized, but also more personal.

Electronic health records and faster, more flexible systems for sharing clinical data across platforms and institutions are letting physicians and scientists make new discoveries at the population level. Those discoveries, in turn, make individual patients’ many “-omes” (genome, proteome, microbiome, metabolome and so on) ever more integral to their diagnosis and care.

“The state of an individual person will be characterized with increasing precision from the molecular level to the genomic level to the organ level and by interactions with medications, nutrients, the microbiome, therapeutic devices, and the environment,” write Isaac Kohane, MD, PhD, director of our Informatics Program, and his coauthors in a recent piece in the New England Journal of Medicine. “This precision medicine will become possible because of huge data sets on large populations, with millions of characterizations of each person.”

Massive crunching of this data, they predict, will yield analytic or algorithmic formulas that can be built into electronic health record systems as decision support tools to assist in everyday patient care. More personal and yet more standardized. —Tom Ulrich

(Zacfranks/Wikimedia)

Data from mobile health apps go mainstream in hospitals

Mobile and app-based technologies will have their contribution to big data too. Apps are arriving, along with “smart” devices to track our health—physical activity monitors, heart rate monitors, sleep sensors. Patients have begun tracking their blood glucose levels and other parameters online. Researchers are mining this information. And according to Manhattan Research, 85 percent of U.S. physicians are now using mobile devices at work.

What remains is for medical records systems to take in and use all this information. Very little of this is happening, and the records themselves are still largely siloed within individual provider systems, since the different databases don’t talk to each other.

That will start to change in 2013. The Affordable Care Act has put the onus on healthcare IT to become more nimble, more like IT in industries like banking and airlines. Programs like SMART are supporting the development of modular apps that can be used within any health IT system. Prizes and incubator companies are helping entrepreneurs work successfully in the health care environment.

To be sure, there are regulatory hurdles and other obstacles to overcome. Once they are, expect to see even cooler apps and sensors—able to diagnose an infection, monitor blood levels of a drug, monitor seizure activity or track heart rate touch-free in a fragile preemie. —NF

(phil41dean/Flickr)

Health care delivery system disruption

The most disruptive trend in health care this year, we predict, won’t be a new drug or medical breakthrough. It’ll be changes in how care is delivered. Whether via iPad, Web platform, smartphone, home robots or even simple texting, telemedicine and health apps are altering the nature of a medical encounter. They’re keeping patients and providers in closer touch and helping doctors understand their patients’ day-to-day health in a way they never did before.

The potential for involving patients as partners in their care, getting a specialist’s opinion, improving follow-up care and avoiding hospital readmissions is huge.

It’s not only a proliferation of health-related apps that’s driving this transition. Right now, the fee-for-service system rewards providers for procedures and hospitalizations, but that’s changing quickly as more and more patients fall under accountable care organizations and global payment systems of various kinds. The Center for Medicare and Medicaid Services (CMS) began penalizing U.S. hospitals for readmissions in October 2012—a powerful incentive to rethink hospital care, discharge planning and patient engagement.

When incentives are realigned, providers will be rewarded for quality and value, and insurers will be increasingly willing to pay for time spent engaging in telemedicine. —NF

((Wednesday Elf - Mountainside Crochet/Flickr)

Rethinking research models

In recent years, ever more questions have cropped up about mice as research models, and with good reason. As the late Judah Folkman, MD, famously said a decade and a half ago, “If you have cancer and you are a mouse, we can take good care of you.”

Quite apart from the biological differences between people and mice, the ways we model diseases in mice (for instance, implanting tumors under the skin) don’t often reflect how they actually develop in people. 2013 could be the year when we see other disease-modeling methods take hold.

The induced pluripotent stem (iPS) cell—subject of 2012’s Nobel Prize in Physiology or Medicine—is being used to model dozens of diseases—from diabetes to autism to blood diseases like Fanconi anemia to rare immune responses to infections that only affect certain tissues. Expect the number of iPS cell models to grow as researchers learn more about the nuances of cellular reprogramming.

Another promising avenue: engineering systems that simulate a living body by mimicking the signals and forces that our cells experience, like the organs on chips being developed by Donald Ingber, MD, PhD, in Boston Children’s Vascular Biology Program. Apart from improving drug testing, chip-based methods could provide the right environment to help produce platelets and other products for use in the clinic. —TU

Learning from the rare to treat the common

In a post on Vector last year, Alan Beggs, PhD, who directs our Manton Center for Orphan Disease Research, nicely made the point that what we call “rare” diseases, when taken together, aren’t rare at all. More importantly, they hold lessons for doctors, researchers and patients trying to understand more common conditions.

Take rare pediatric tumors. “They pay you back if you have the chance and resources to study them,” said Carlos Rodriguez-Galindo, MD, director of the solid tumor program at Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC). “For instance, pediatric tumors tend to have fewer mutations than adult tumors. Why is that, and what does it mean for oncogenesis? And why do some children develop what we consider adult tumors, like melanoma? We don’t yet know, but a deeper genomic understanding of rare pediatric tumors could help us understand.”

Or take Hutchinson-Gilford Progeria Syndrome, which affects maybe 100 children in the world. Discovery of the gene causing this rare “aging” syndrome has not only led to a helpful treatment, but is shedding light on processes of normal aging.

Increasingly, rare diseases provide a launch pad for treatments that could benefit larger numbers of patients—treatments like gene therapy or gentler ways of preparing patients for stem cell transplants, which were tested first in patients with rare bone marrow failure syndromes. —TU

Drug shortages threaten care

The drug shortages that started appearing several years ago are still taking a significant toll on patients nationwide, especially children with cancer. A recent NEJM piece co-authored by Amy Billett, MD, who leads safety and quality research at DF/CHCC, highlighted shortages of mechlorethamine, a mainstay for treating children with Hodgkin’s lymphoma. Doctors came up with a workaround, but at a price: the percentage of children relapsing doubled when the regimen was modified.

Mechlorethamine isn’t the only anticancer drug in jeopardy. The paper cites shortages of cytarabine, daunorubicin and methotrexate, which are essential for treating childhood leukemia, a highly curable cancer. Al Patterson, PharmD, director of our pharmacy, recently highlighted shortages of anesthetics, sedatives, emergency room medications, and other crucial drugs.

In November, a New York Times article cataloged a host of known and possible reasons for the shortages, ranging from plant closings to raw material supply problems to overzealous FDA regulation. The New England Compounding Center scandal has compounded the problem, since compounding pharmacies often formulate specialized drugs that manufacturers can’t.

Are things beginning to turn? The list of shortages was down to 100 at the end of 2012, from a high of 251 in 2011. Mechlorethamine was back on the market last October, and other shortages Billett and her colleagues noted were short-lived. And the FDA has taken several steps to fend off shortages, relaxing restrictions on drug importations and expediting approval of generic medications. But for now, the shortages continue. —TU

Learning from nature

Think of evolution as nature’s tinkerer: finding problems, suggesting answers, discarding those that don’t work while refining those that do. Scientists are starting to realize that there’s a lot we can learn by understanding natural systems. That kind of thinking has spawned the entire field of biologically inspired engineering.

Donald Ingber’s organs on chips are one example of the benefits of mimicking nature. So too is a system he developed last year that harnesses the same forces that cause disease—in this case the clumping together of platelets into clots, causing strokes—to target delivery of clot-busting drugs.

The body’s autonomic nervous system—which controls our breathing, heart rate, temperature and more—inspired researcher Daniel Kohane, MD, PhD, in our Critical Care Medicine division to help figure out how to engineer “cyborg” tissues that incorporate their own feedback and control networks. And researchers at Brigham and Women’s Hospital are figuring out how to make better needles and surgical staples by looking at porcupine quills. The more we learn about the designs nature has come up with, the more we can make use of those designs for our benefit and the world’s. —TU

(HansN/Wikimedia Commons)

Proliferating interest in the microbiome

Bugs can be good for you…if they’re the right ones. In fact, bugs are us, colonizing practically all our body surfaces. Last June, the Human Microbiome Project Consortium announced that 242 healthy adults, sampled at 15 or 18 body sites, collectively carried thousands of species, with huge variation among individuals.

The view is emerging that if important microbes are missing or outnumbered—even ones we associate with disease—there are downstream consequences to pay. An imbalance in the microbiome is thought to have a role in allergies, autoimmune disorders and even obesity (by altering our metabolic balance).

A team from the Baylor College of Medicine recently characterized the vaginal microbiome and found that its makeup changes markedly in pregnant women, seemingly in anticipation of babies’ needs. One proliferating microbe, Lactobacillus johnsonii, produces an enzyme that helps digest milk. Others might help condition the immune system: research from the University of California, San Francisco suggests that children born by C-section—bypassing the birth canal—may have more T-cell suppression, perhaps explaining their higher incidence of asthma.

Here at Boston Children’s, gastroenterologist Athos Bousvaros, MD, MPH, is documenting perturbations of the oral and fecal microbiome and less overall microbe diversity in children with inflammatory bowel disease, and is developing microbiome-based tests for these hard-to-diagnose conditions.

With new, highly sensitive methods for detecting microbes, expect to see an explosion of research on the microbiome in 2013—plus more interest in fecal transplants, which have proven an effective treatment for devastating bowel infections. Think of it as integrated pest management for your body. —NF

(Courtesy Ann McKee)

Concussion as a public health issue

Concussions have increased steadily over the past 20 years, especially in adolescent and preteen athletes, who increasingly play sports competitively. An October Pop Warner game that led to five concussed players, ages 10 to 12, made waves that rippled well beyond the state of Massachusetts.

It’s become increasingly clear that concussions, even ones that seem minor, are true traumatic brain injuries. A Boston University study (PDF) and the revelation that former NFL linebacker Junior Seau, who committed suicide last spring, had chronic traumatic encephalopathy (CTE) from multiple blows to the head has heightened concern  about what repeated concussions can do.

There’s more research to come in 2013: In September, the NFL pledged $30 million for medical research to the Foundation for the National Institutes of Health, and an extensive study was announced last week by the Institute of Medicine.  And expect intensifying debate in the sports world about whether “hit counts” should be limited to protect young athletes. —NF

 

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