DNA Sequencing for Routine Checkups

The Future of Medicine Is Now

From cancer treatments to new devices to gene therapy, a look at six medical innovations that are poised to transform the way we fight disease

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. A decade ago, the completion of the Human Genome Project sparked optimism that cures for debilitating diseases were just around the corner. Cures still generally elude us, but now the ability to map human DNA cheaply and quickly is yielding a torrent of data about the genetic drivers of disease—and a steady stream of patients who are benefiting from the knowledge. On other fronts, technology is putting more power in the hands of patients, and researchers are learning to combat disorders by harnessing the body's own ability to heal and grow.

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 six 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.

A test developed by Foundation Medicine Inc. analyzes tumor DNA to help find targeted treatment options for patients with cancer. Foundation Medicine

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." That's one reason why 30% of patients or more don't survive to adulthood.

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.

A new surgical strategy helped 9-year-old Alexa Rand's body to essentially grow half a heart into a whole one. Jennifer S. Altman for The Wall Street Journal

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.

The main drawback: The strategy requires one more surgical procedure, on average, and significantly more days in the hospital than the conventional surgery. The hope is, Dr. Emani says, that the long-term benefits will outweigh the extra hospital time.

—Ron Winslow

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. IlluminaInc. ILMN +0.52% 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.

Amit Meller —an associate professor at Boston University, a scientific adviser at Oxford and the co-founder of Noblegen Biosciences—is at work on another nanopore device that he says would use fluorescent signals to read the DNA information. His company is still a number of years away from a prototype, but Dr. Meller says the goal is to speed up sequencing even more—with results in a few hours, not the current weeks or days, at a cost of less than $100.

—Amy Dockser Marcus

Date: 2015-12-17; view: 765