Stories about: Diagnostics

Getting academic diagnostic discoveries to market: 6 tips from industry

diagnosticsdiagnostics (008) Loading of QIAsymphony platform“Wouldn’t it be great if we could come up with a noninvasive diagnostic assay to detect pancreatic cancer at an earlier, more treatable stage?” asked Lori Aro of Myriad Genetics. Her company has been trying to do so for years. So why hasn’t it happened?

Aro, senior director for new product planning at Myriad, outlined the business obstacles at a recent panel hosted by Boston Children’s Hospital’s Technology and Innovation Office (TIDO).

First, who are the target patients for a pancreatic cancer test? Skinny diabetics, patients with chronic pancreatitis, patients with hereditary cancer risk — or all three? “Those three patient types all sit in different doctor’s offices,” said Aro. Simultaneously reaching endocrinologists, gastroenterologists and high-risk patients would be an insurmountable challenge, Myriad concluded.

Second, the assay would likely need to be validated in all three patient populations, with confirmatory imaging. Could the test populations be large enough to make the results statistically significant?

Third, a new test wouldn’t change care, as there is no treatment for pancreatic cancer. In fact, no current data show that earlier diagnosis improves survival. So who would pay for it?

Aro’s story exemplifies just some of the challenges in developing a new diagnostic test.

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Beyond appearances: Molecular genetics revises brain tumor classification and care

What a brain tumor looks like isn’t the best predictor of prognosis. (Jensflorian/Wikimedia Commons)
What a brain tumor looks like isn’t the best predictor of prognosis. (Jensflorian/Wikimedia Commons)

Scott PomeroyScott Pomeroy, MD, PhD, is Neurologist-in-Chief at Boston Children’s Hospital. He practices in the Brain Tumor Center and is a member of the F.M. Kirby Neurobiology Center.

For almost a century, brain tumors have been diagnosed based on their appearance under a microscope and classified by their resemblance to the brain cells from which they are derived. For example, astrocytoma ends with “-oma” to designate that it is a tumor derived from astrocytes. In some cases, especially in children, brain tumors resemble cells in the developing brain and are named for the cells from which they are presumed to arise, such as pineoblastoma for developing cells within the pineal gland or medulloblastoma for developing cells within the cerebellum or brainstem.

In June, the World Health Organization (WHO), which sets the worldwide standard, released an updated brain tumor classification scheme that, for the first time, includes molecular and genetic features.

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News Notes: Pediatric science roundup

A quick look at recent research Vector finds noteworthy.

Tracking infants’ microbiomes

cute microbes-shutterstock_317080235-croppedMicrobiome studies are blooming as rapidly as bacteria in an immunocompromised host. But few studies have been done in children, whose microbiomes are actively forming and vulnerable to outside influences. Two studies in Science Translational Medicine on June 15 tracked infants’ gut microbiomes prospectively over time. The first, led by researchers at the Broad Institute and Massachusetts General Hospital, analyzed DNA from monthly stool samples from 39 Finnish infants, starting at 2 months of age. Over the next three years, 20 of the children received at least one course of antibiotics. Those who were repeatedly dosed had fewer “good” bacteria, including microbes important in training the immune system. Overall, their microbiomes were less diverse and less stable, and their gut microbes had more antibiotic resistance genes, some of which lingered even after antibiotic treatment. Delivery mode (cesarean vs. vaginal) also affected microbial diversity. A second study at NYU Langone Medical Center tracked 43 U.S. infants for two years and similarly found disturbances in microbiome development associated with antibiotic treatment, delivery by cesarean section and formula feeding versus breastfeeding.

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Expectation vs. reality: Rare disease parents’ mixed feelings about genetic research results

rare disease genetic resultsTypically, when you enroll in a study, it’s not with the expectation that you will receive results. In genomics studies, it’s becoming common to give families the option to get individual results — the newborn sequencing study, Baby Seq, is just one example — as an incentive to participate. Families of children with rare disease, especially undiagnosed illnesses, need no incentive: they’re desperate for answers.

But how do families actually feel once they get genetic results? We conducted interviews with nine rare disease parents (six mothers, three fathers) whose children were enrolled at the hospital’s Manton Center for Orphan Disease Research. What we found is more complexity than we expected.

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News Notes: Headlines in science and innovation

An occasional roundup of news items Vector finds noteworthy.

Zika’s surface in stunning detail; mosquito tactics

Zika virus
(Purdue University image/courtesy of Kuhn and Rossmann research groups)

We haven’t curbed the Zika epidemic yet. But cryo-electron microscopy — a newer, faster alternative to X-ray crystallography — at least reveals the structure of the virus, which has been linked to microcephaly (though not yet definitively). The anatomy of the virus’s projections gives clues to how the virus is able to attach to and infect cells, and could provide toeholds for developing antiviral treatments and vaccines. Read coverage in the Washington Post and see the full paper in Science.

Meanwhile, as The New York Times reports, scientists are coming together in an effort to control Zika by genetically manipulating the mosquito that spreads it, Aedes aegypti.

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Ten child health innovations headed to SXSWi

Impact Pediatric Health child health innovation
(U.S. Army/Lori Yerden via Flickr)

Innovation in pediatrics is alive and well. On March 14, at the South by Southwest Interactive (SXSWi) festival in Austin, Tex., Impact Pediatric Health will run its second annual pitch competition for digital health and medical device startups. Based on the ten child health innovations to be pitched, it promises to be as inspiring as last year’s event.

Judges include representatives from the four founding hospitals — Boston Children’s Hospital, Cincinnati Children’s Hospital, Texas Children’s Hospital and Children’s Hospital of Philadelphia — and from Sesame Workshop, whose recently announced Sesame Ventures plans to support companies that “help kids grow smarter, stronger and kinder.”

John Brownstein, PhD, chief innovation officer at Boston Children’s and one of the judges on the panel, agrees with that mission. “When it comes to innovation, pediatrics is often a second thought or gets left out altogether,” he says. “I’m extremely impressed with the landscape this year and the breadth of startup ideas.”

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Personalized medicine for kidney stones

Kidney stones

One in 10 people in their lifetime will have a kidney stone — a small, hard deposit of mineral and acid salts that can obstruct the drainage of urine, cause intense pain and, if not treated properly, lead to long-term kidney issues. Kidney stones are relatively uncommon in children, but the number of cases over the past two decades has risen.

The treatment for kidney stones has remained the same for decades — increased fluid intake, limited sodium intake, diuretics and potassium citrate therapy. Lifestyle factors are typically blamed for kidney stones, yet twin studies suggest a genetic component. In fact, new research supports pursuing a genetic diagnosis for this common condition, especially in kids.

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Nephrotic syndrome: Unexpected insights from genomic sequencing

nephrotic syndrome - SNRS -a glomerulus
Magnified views of a glomerulus from a rat kidney. (Source for all images: Braun DA; et al. Nat Genet 2015 doi:10.1038/ng.3512)

About 1 in 5 cases of the kidney-destroying condition nephrotic syndrome don’t respond to steroid treatment. They are a leading cause of end-stage kidney failure in children and young adults, who are quickly forced to go on dialysis or wait for a kidney transplant.

Thanks in large part to the lab of Friedhelm Hildebrandt, MD, chief of the Division of Nephrology at Boston Children’s Hospital, more is becoming known about this severe condition. Mutations in more than 30 genes have been implicated, all causing dysfunction of glomeruli, the kidney’s filtering units, specifically in cells known as podocytes. Test panels are now clinically available. Yet, in 70 percent of patients, the causative gene is still unknown.

A new study by Hildebrandt and colleagues in this week’s Nature Genetics pinpoints three new, completely unexpected genes, revealing the power of whole-genome sequencing and potentially opening a new treatment route for at least some steroid-resistant cases.

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The cell that caused melanoma: Cancer’s surprise origins, caught in action

It’s long been a mystery why some of our cells can have mutations associated with cancer, yet are not truly cancerous. Now researchers have, for the first time, watched a cancer spread from a single cell in a live animal, and found a critical step that turns a merely cancer-prone cell into a malignant one.

Their work, published today in Science, offers up a new set of therapeutic targets and could even help revive a theory first floated in the 1950s known as “field cancerization.”

“We found that the beginning of cancer occurs after activation of an oncogene or loss of a tumor suppressor, and involves a change that takes a single cell back to a stem cell state,” says Charles Kaufman, MD, PhD, a postdoctoral fellow in the Zon Laboratory at Boston Children’s Hospital and the paper’s first author.

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How whole-genome sequencing solved my son’s genetic mystery

Titin gene centronuclear myopathy

A longer version of this article was published in the journal Narrative Inquiry in Bioethics as part of a special issue on patients’ experiences with genetic testing.

“Negative.” “Normal.” “Fails to confirm the diagnosis of . . .” “Etiology of the patient’s disease phenotype remains unknown.”

These are words I heard repeatedly in the first 11 years of my son’s life. Even as new genes for my son’s rare muscle disorder were discovered around the world, negative or “normal” genetic test results were reported back to us 13 times.

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