From the category archives:

Personalized medicine

cancer genomicsIn 2012, Boston Children’s Hospital held the international CLARITY Challenge—an invitation to interpret genomic sequence data from three children with rare diseases and provide a meaningful, actionable report for clinicians and families. (Click for more background on the children, findings and winners.)

The full proceedings, published March 25 in Genome Biology, concluded that while the technical approaches were markedly similar from center to center, the costs, efficiency and scalability were not. Most variable, and most in need of future work, was the quality of the clinical reporting and patient consenting process. The exercise also underscored the need for medical expertise to bring meaning to the genomic data.

That was CLARITY 1. CLARITY 2, focusing on cancer genomics in children, promises to be exponentially more complex. Full story »

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3D printed plastic model of a patient's skull John Meara craniofacial anomaliesA picture may be worth a thousand words, but there’s something about holding an object in your hands that’s worth so much more. I realized this when John Meara, MD, DMD, handed me the skull of one of his patients.

I turned it over in my hands while Meara, Boston Children’s Hospital’s plastic surgeon-in-chief, pointed out features like the cranium’s asymmetric shape and the face’s malformed left orbit.

Mind you, it wasn’t actually Meara’s patient’s skull in my hands. In reality, I was holding a high-resolution, plastic 3D model printed from the patient’s CT scans.

The printer that made that model—and several other models I saw in the last month—is the centerpiece of a new in-house 3D printing service being built by Peter Weinstock, MD, PhD, and Boston Children’s Simulator Program.

3D printing technology has exploded in the last few years, to the point where anyone can buy a 3D printer like the MakerBot for a couple of thousand dollars or order 3D printed products from services like Shapeways. Adobe even recently added 3D printing support to Photoshop.

And 3D printing is already making a mark on medicine. Full story »

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Three clinics are pre-testing children for genetic variants likely to affect their response to drugs.

Three clinics are pre-testing children for genetic variants likely to affect their response to drugs.

In 2009, The New England Journal of Medicine reported the case of an otherwise healthy 2-year-old boy in Canada who died after surgery. He had received a codeine dose in the recommended range, but an autopsy revealed that morphine (a product of codeine metabolism) had built up to toxic levels in his blood and likely depressed his breathing. Genetic profiling revealed him to be an “ultrarapid codeine metabolizer,” due to a genetic variation in an enzyme known as CYP2D6, part of the cytochrome P-450 family.

While codeine is no longer used at Boston Children’s Hospital, it’s this kind of genetic profiling that Shannon Manzi, PharmD, would someday like to offer to all patients—before a drug is prescribed.

Not all people respond the same way to drugs. The results of randomized clinical trials—considered the gold standard for drug testing—often produce a dose range that worked for the majority of the patients in the study. They don’t take people’s individuality into account, and that individuality can dramatically affect drug efficacy and toxicity.

Adverse reactions are more common than you might think. Full story »

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_InnovationSummit0106Boston Children’s Hospital convened the National Pediatric Innovation Summit + Awards 2013 with an ambitious goal: to bring together thought leaders to address the toughest challenges in pediatric health care. During the two-day summit, a series of panels and town hall discussions sparked dynamic dialogue.

While the summit was designed as a forum for ongoing discussion and relationship building, five key takeaways have emerged.            Full story »

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frassica

First-generation clinical decision support has been plagued by poor uptake among physicians, largely due to its overwhelming nature and perceived lack of applicability to clinical practice. But predictive analytics, built into these platforms, could produce the next significant wave in innovation in pediatric care, according to Joseph Frassica, MD, chief medical informatics officer and chief technology officer of Philips Healthcare.

Frassica spoke about predictive analytics last week at a panel on innovation acceleration at the Boston Children’s Hospital National Pediatric Innovation Summit + Awards 2013. Vector caught up with him afterward. Full story »

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Abstract model of the genome morphing into human shape representing clinical genomics.The Human Genome Project’s push to completely sequence the human genome ran a tab of roughly $2.7 billion and required the efforts of 20 research centers around the world using rooms full of equipment.

But that was using technology from the 1990s to early-2000s. As by a panel of genomics experts from industry and academia pointed out at last week’s National Pediatric Innovation Summit + Awards, a scientist in a single laboratory today can sequence a genome for as little as $1,000, making sequencing almost a medical commodity.

Now what? How do we go about making clinical genomics an everyday thing? The discussion left the answer to that question—and the other questions it raises—unclear. While the panelists expressed excitement about what’s possible, they cited great uncertainty among doctors, scientists, patients, payers, companies and regulators about how to make clinical genomics work. Full story »

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Understanding asthma's different pathways may allow individualized treatments.

Understanding asthma's different pathways may allow individualized treatments.

Existing asthma drugs don’t work well in many people, and a major reason is becoming clear: Asthma isn’t just one disease, but a collection of diseases that cause airways to constrict and become twitchy. Different types of asthma have different triggers that exacerbate the disease, each setting off a different part of the immune system, and each needing a different pharmacologic approach.

In this week’s Nature Medicine, a team led by Dale Umetsu, MD, PhD, and Lee Albacker, PhD, of Boston Children’s Hospital’s Division of Immunology and Harvard Medical School, describe a type of asthma triggered by the fungus Aspergillus fumigatus, a common mold.

Existing asthma control drugs, like inhaled corticosteroids, target allergic asthma, via pathways involving adaptive immunity and a group of T cells, known as Th2 cells. However, the new work, in live mice and in human cell cultures, suggests that Aspergillus triggers asthma through a faster process involving the innate immune system. In both mice and humans, Aspergillus activates a different set of T cells, known as natural killer T cells (NKT cells). Full story »

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Face models made through 3D printing (S zillayali/Wikimedia Commons)

Thorsten Schlaeger, PhD, heads the Human Embryonic Stem Cell Core of the Boston Children’s Hospital Stem Cell Program.

I recently took my 6-year-old son to a Family Science Day, hosted by the 2013 American Association for the Advancement of Science (AAAS) Annual Meeting in Boston. He was most excited by a model airplane made out of parts that had been generated with a 3D printer. The scientist, from MIT, explained to us how this technology works: Instead of generating 2D printouts by spraying ink onto paper, 3D printing technologies assemble 3D objects layer by layer from a digital model, generally using molten plastics or metals.

3D printing is quickly being adopted by many professions, from architects and jewelers who want to build mock-ups for clients, to manufacturers of products like bikes, cars or airplanes. Soon we might all have 3D printers in our homes: The kids could design and print their own toys, while the grownups might use the technology to generate replacement parts for minor home improvement jobs (our broken shower faucet knob comes to mind). Full story »

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(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; Full story »

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A new spinoff business will make large-scale genomic diagnostics a reality in medical practice (Image: Rosendahl)

Genomic sequencing and molecular diagnostics are becoming a global business. At the recent American Society of Human Genetics meeting, dazzling technologies for reading genetic code were on display—promising faster, cheaper, sleeker.

Nevertheless, it’s become clear that the ability to determine someone’s DNA or RNA sequence doesn’t automatically translate into useful diagnostics or even actionable information. In fact, the findings are often confusing and hard to interpret, even by physicians.

That’s where academic-industry partnerships can flourish—tapping the deep expertise of medical research centers to bring clinical meaning to sequencing findings. Yesterday, Boston Children’s Hospital and Life Technologies Corp. announced a new venture with a great list of ingredients: fast, accurate, scalable sequencing technology—Life’s Ion Proton® Sequencer—but also research and clinical experience in rare and genetic diseases, bioinformatics expertise to handle the big data, and the medical and counseling expertise to create meaning from the results. Full story »

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