In our era of instant gratification, the world of medicine seems like an outlier. The path from a promising discovery to an effective treatment often takes a decade or more.
But from that process—of fits and starts, progress and setbacks and finally more progress—grow the insights and advances that change the course of medicine.
Advances bring other challenges, including how to pay for them. Meanwhile, the complex biology that stymies gains for some patients sets goals for new advances.
Here are some of today's potentially transformative trends.
Growing a Heart
Surgeons at Boston Children's Hospital have developed a way to help children born with half a heart to essentially grow a whole one—by marshaling the body's natural capacity to heal and develop.
About 1,000 babies are born in the U.S. each year with a condition called hypoplastic left-heart syndrome, the result of a genetic anomaly that leaves them without a functioning left ventricle, the heart's main pumping chamber. Without a surgical repair, the defect is almost always fatal.
The standard treatment is a series of three open-heart operations to reroute circulation so that the right ventricle can take over pumping blood to the body's organs and extremities. But the right ventricle "is meant to handle low-pressure blood flow to the lungs," says Sitaram Emani, the surgeon heading the effort on the new approach. "Now you're asking it to do the work of a high-pressure system and to do that work for many years. Eventually it fails."
Dr. Emani and his colleagues devised a complex strategy to open obstructed valves and repair other malformations to direct blood flow to the left ventricle instead of away from it. That triggers biological processes that promote the heart's growth.
Last month, after using the approach on 34 carefully selected patients over the past decade, the doctors reported in the Journal of the American College of Cardiology that 12 now have two working ventricles. One of them, 9-year-old Alexa Rand of Kings Park, N.Y., whose treatments began in utero, is thriving. She sings, dances and surprises doctors with how long she can walk on a treadmill, says her mother, Rosamaria Rand.
DNA Sequencing for Routine Checkups
At a genetics conference in November, Oxford Nanopore Technologies unveiled the first of a generation of tiny DNA sequencing devices that many predict will eventually be as ubiquitous as cellphones—it's already the size of one.
Since the first sequencing of the human genome was completed in 2003 at a price tag of over $2 billion, the speed, price and accuracy of the technology have all improved. Illumina Inc. has dropped its price for individual readouts to $5,000; earlier this year, Life Technologies introduced a sequencer it says can map the human genome for $1,000. The smallest machine is now desktop-size.
But nanopore sequencing devices, which are designed to be even smaller and more affordable, could speed efforts to make gene sequencing a routine part of a visit to the doctor's office. DNA molecules are exceedingly long and complicated; that makes them hard to read. Nanopore technology measures changes in the molecules' electrical current as the DNA is threaded in a single strand through tiny holes called "nanopores" created in a membrane.
So far, U.K.-based Oxford has released the results of sequencing a virus genome with this technique. The company hasn't provided data, however, showing that the sequencers can analyze the much larger human genome. A spokeswoman for Oxford says the company is working hard toward being able to sell devices, including one that is expected to cost under $1,000, though it doesn't yet have a launch date.
Matching a Tumor to a Drug
Our growing understanding of the workings of the human genome is posing a new challenge: How to use that data to change the course of disease. Consider cancer. As seen through a gene-sequencing machine, some cancers can appear as at least a dozen different genetic diseases, some of which have been shown to respond uniquely to a specific drug. But how do cancer doctors quickly match a patient's tumor with a drug that targets it?
One answer is a test developed by Foundation Medicine Inc., a Cambridge, Mass., startup whose scientific founders include one of the leaders of the Human Genome Project. The test, officially launched last June, enables doctors to test a tumor sample for 280 different genetic mutations suspected of driving tumor growth.
This changes "everything in terms of how we approach patients with cancer," says David Spigel, director of lung-cancer research at the Sarah Cannon Research Institute in Nashville, Tenn. He used the test in one patient with advanced disease and few apparent options. She turned out positive for an alteration in a gene targeted by several drugs currently in development. She was signed up for one of the studies. A short time later, "she's like a new person," he says. "She's off pain medicines. She gained her weight back."
Michael Pellini, Foundation's chief executive officer, says that more than 600 oncologists have requested the test, which lists for $5,800. So far, he says, about 70 percent of cases have turned up a mutation that is potentially targeted by a drug on the market or in a clinical trial.
In one recent case, Pellini says, a sample from a woman with advanced pancreatic cancer yielded a response for "her2," an alteration associated with a certain form of breast cancer. She was treated and her cancer responded to the breast-cancer drug Herceptin. Few oncologists would think to look for her2 in a patient with pancreatic cancer, he says.
Health in the Palm of Your Hand
There's a good chance that you already own one of the most ubiquitous health-care innovations: a smartphone. Last month, the FDA cleared a new iPhone add-on that lets doctors take an electrocardiogram just about anywhere. Other smartphone apps help radiologists read medical images and allow patients to track moles for signs of skin cancer.
"I see the smartphone as one piece of how we're going to try to get health costs under control," says David Albert, the Oklahoma City-based inventor of the just-approved AliveCor electrocardiogram application.
At $199, AliveCor consists of a case that snaps onto the iPhone, with electrodes on the back. It reads heart rhythms and relays the recording to an iPhone app, allowing physicians to read the data. Albert says a $99 version should be available soon that will let patients capture their own heart data, documenting sometimes-fleeting arrhythmias when they feel symptoms or tracking the success of lifestyle changes at curbing heart troubles.
The FDA has cleared a handful of apps, beginning with an iPad and iPhone-based medical imaging reader in 2011. The smartphone lets us "bring health care into the home," says Erik Douglas, CEO of CellScope. His company is developing an iPhone-based otoscope that would allow parents to upload images of their children's inner ears when they show signs of infections, with the aim of avoiding unnecessary doctors visits.