“Precision medicine” looks to be heading down the same path as “big data” and “innovation”: The term is becoming so widely used that it threatens to detract from the real impact it is already having in patients’ lives.
But for children, who are still developing and have the most to gain, precision medicine is more than a bumper sticker. On the micro scale, early genetic testing—perhaps routinely, someday, in newborns—can help guide medical care, targeted therapies and preventive strategies based on a child’s genetic makeup. On a macro scale, big data from the larger population becomes a predictive tool, guiding medical decisions that could be life-altering in a still-malleable child.
“If you can make an early diagnosis, you can amplify the effects of what you do, rather than try to change the highways once they’re built,” said Wendy Chung, MD, PhD, of Columbia University Medical Center during a panel discussion last week at Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards (#PedInno15). …
Leroy Hood, MD, PhD, might not be a household name, but his impact on genetics and systems biology is hard to understate. Most notably, Hood invented the automated DNA sequencer that made the Human Genome Project possible.
In recent years, Hood has been working towards an even broader revolution in health care through an approach he calls P4 Medicine. The four Ps stand for predictive, preventative, personalized and participatory.
In his keynote presentation at the Boston Children’s Hospital Global Pediatric Innovation Summit + Awards, Hood laid out P4 Medicine’s radical vision for the future of health care. It’s a system that encompasses not just treating health problems, but enhancing wellness and preventing problems from occurring in the first place. …
Two new developments offer glimmers of hope to patients with rare, hard-to-diagnose conditions—validation of the power of crowd sourcing and the prospect of bringing cognitive computing to rare disease diagnosis. Both developments were announced at the Boston Children’s Hospital Global Pediatric Innovation Summit + Awards (#PedInno15).
The crowd-sourcing challenge, CLARITY Undiagnosed, yesterday announced the findings of 21 teams that competed from seven countries. The winning team, Nationwide Children’s Hospital (Columbus, OH), was awarded $25,000. Invitae Corporation (San Francisco) and Wuxi NextCODE Genomics (Cambridge, MA) were named runners-up.
Each team received DNA sequences and clinical data from five families whose illnesses had eluded many prior diagnostic attempts—in some cases, even prior genomic sequencing.
“When you’re dealing with a chronic disease like diabetes, 90 percent of medical care is done by the patients themselves,” says Jeff Ruiz, vice president of diabetes service and solutions at Medtronic. The time people with diabetes spend in the doctor’s office each year pales in comparison to the time they themselves spend managing their condition each and every day.
That’s why Medtronic, the world leader in diabetes management devices, is focused on patient engagement and turning real-time data into actionable insights. “You can provide all the best devices and medications, but it’s up to the patient at the end of the day,” said Ruiz, speaking on Monday during a panel discussion at the 2015 Boston Children’s Hospital Global Pediatric Innovation Summit + Awards. …
We’ve all heard the George Santayana quote, “Those who cannot remember the past are condemned to repeat it.” But there’s another way of thinking about the lessons that the past holds for the future: Those who do remember the past can recapture and harness earlier feelings of energy, urgency and possibility to overcome new problems, now and in the future.
In taking the audience on a tour through the last 60 years of advances in cancer biology, genomics and treatment, Mukherjee highlighted the central role pediatrics played as the starting point for the cancer successes we see today. How, he asked, did children come to play such a central role? What can we learn from the successes in the 1950s and ’60s, when pediatric cancer started to evolve from a death sentence to a treatable, even curable disease?
And how, he asked, can we recapture and harness the energy and urgency of that time today?
3-D printing is rapidly becoming a part of surgical planning. Since July 2013, Boston Children’s Hospital’s 3-D printing service, part of the Simulator Program, has received about 200 requests from 16 departments around the hospital. It’s generated a total of about 300 prints, most of them replicating parts of the body to be operated on.
Most prints take between 4 and 28 hours to produce. The largest to date—an entire malformed rib cage—took 105 hours and 35 minutes to create and weighed 8.9 pounds. The smallest—a tiny tangle of blood vessels in the brain—took 4 hours and 21 minutes and weighed 1.34 ounces. Here is sampling of what’s been coming off the production line. …
“It’s all about the patients,” says Katherine Janeway, MD, when asked about the motivations behind her efforts to bring precision medicine to pediatric oncology. But it’s more than that; the drive to combine science and care is in her blood. A solid tumor specialist and cancer genomics researcher at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Janeway is the sixth generation of her family to choose a scientific or medical path—not just as a career, but also as a form of service.
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.”
At this recent GoldLab Symposium presentation in Colorado, parent Matt Might shows how it’s done.
People credit rapid next-generation gene sequencing for the increased pace of medical discovery. But patients and their families—especially those with rare or undiagnosed conditions—are emerging as the true engines of precision medicine. Racing against the clock to save their children, parents are building databanks, connecting scientific dots and fueling therapeutic advances that could otherwise take a decade or more to happen.
Second in a two-part series on metabolic liver disease. Read part 1.
According to the American Liver Foundation, about 1 in 10 Americans have some form of liver disease. One rare, under-recognized disorder, lysosomal acid lipase (LAL) deficiency, can fly under the radar until it becomes life-threatening, often requiring a liver transplant. LAL deficiency currently has no specific treatment, but that may change thanks to combined expertise in genetics, metabolism and hepatology.
“LAL deficiency is currently under-diagnosed,” Neilan says. “We think the disease is more common than doctors have thought and now, with a treatment in trial, it is of greater importance to identify those patients so they may have better outcomes.” …