Stories about: precision medicine

MATCHing precision medicine to all kids with cancer

Image of human neuroblastoma tumor cells. A new nationwide clinical trial called pediatric MATCH will utilize genomic sequencing to match children with individualized, targeted drugs matched to their tumor profile.
Human neuroblastoma cells.

A multi-center clinical trial is now offering nationwide genetic profiling services to pediatric and young adult cancer patients across the U.S. The goal is to identify gene mutations that can be individually matched with targeted drugs.

“This is the first-ever nationwide precision medicine clinical trial for pediatric cancer,” says pediatric oncologist Katherine Janeway, MD, clinical director of the solid tumor center at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

Sponsored by the National Institute of Cancer (NCI) and the Children’s Oncology Group (COG), the so-called NCI-COG Pediatric MATCH trial will screen patients’ tumors for more than 160 gene mutations related to cancer. Nearly 1,000 patients are expected to participate in the trial and it is estimated that 10 percent of those patients will be matched with a targeted therapy.

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In search of young medical geneticists

Nina Gold, MD, is Chief Resident of Medical Genetics at Boston Children’s Hospital.

During a quiet stretch of my final year in medical school, I read Sir Arthur Conan Doyle’s Sherlock Holmes stories. A master observer, the detective found secrets in wrinkles of clothes, tints of hair, scents of perfume, never satisfied until the truth was revealed. Sherlock was, simply, an expert diagnostician.

In the spring of 2014, I became the first student in my medical school to pursue residency training in a combined pediatrics and medical genetics program. Like Sherlock, pediatric geneticists are stalwart investigators. They are often called into a case long after other consultants and tasked with bringing a family’s diagnostic odyssey to an end. But unlike the emotionally obtuse fictional detective, geneticists must describe their findings with empathy and clarity to concerned families after they solve a mystery.

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If I knew then what I know now: The need for infrastructure to enable precision medicine

precision medicine - closing the infrastructure loop
For precision medicine to happen, we need to be able to close the loop when genetic discoveries are made.

Catherine Brownstein, MPH, PhD, is scientific director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital. Kelsey Graber, MSc, is a research assistant in the Developmental Neuropsychiatry Program. Joseph Gonzalez-Heydrich, MD, is director of the Developmental Neuropsychiatry Program at Boston Children’s Hospital.

Research implicating rare genetic variants in medical and psychiatric diseases is quickly accumulating. This expanding knowledge should be taken into account when making treatment decisions for patients carrying these variants — as well as other family members — even when that knowledge comes after the patient is tested. But all too often, medical institutions are unable to go back and update the information given to families. We need a better infrastructure to enable precision medicine.

This problem recently surfaced in our psychiatry practice. It came to our attention because of a young boy with mild coordination delays and learning disabilities. At age 6, he started experiencing daily hallucinations such as voices telling him to kill his classmates.

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From mice to humans: Genetic syndromes may be key to finding autism treatment

Boy and a mouse eye-to-eye
(Aliaksei Lasevich/stock.adobe.com)

A beautiful, happy little girl, Emma is the apple of her parents’ eyes and adored by her older sister. The only aspect of her day that is different from any other 6-month-old’s is the medicine she receives twice a day as part of a clinical trial for tuberous sclerosis complex (TSC).

Emma’s mother was just 20 weeks pregnant when she first heard the words “tuberous sclerosis,” a rare genetic condition that causes tumors to grow in various organs of the body. Prenatal imaging showed multiple benign tumors in Emma’s heart.

Emma displays no symptoms of her disease, except for random “spikes” on her electroencephalogram (EEG) picked up by her doctors at Boston Children’s Hospital. The medication she is receiving is part of the Preventing Epilepsy Using Vigabatrin in Infants with TSC (PREVeNT) trial. Her mother desperately hopes it is the active antiepileptic drug, vigabatrin, rather than placebo.

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Building precision medicine: Power to the patients

Tools to build precision medicinePrecision medicine involves the development and application of targeted therapeutics based on patients’ genomes, lifestyles and environments. The recent conference on precision medicine at Harvard Medical School highlighted a few challenges in scaling up this process.

To help further precision medicine, the Obama administration and NIH launched the All of Us program, registrations for which are slated to start later this year. Its aim is to collect health data from one million Americans.

But the conference also highlighted several tools that patients can use proactively to collect, share and analyze their own data and use it to improve their own health — and contribute to precision medicine as citizen scientists.

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Three challenges precision medicine faces before it can scale up

Different aspects of precision medicine therapyDoctors, scientists, consumers, entrepreneurs and others came together recently for the Precision Medicine 2017 symposium at Harvard Medical School, now in its third year. This year’s theme was “breakaway business models.” What are challenges in developing targeted treatments based on clinical and genetic data, and how do we overcome them?

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An unclassified tumor — with a precisely targeted therapy

Jesus (who received targeted therapy for his tumor) pictured with his father
Jesus and his father, Nathaneal

Early last year, at his home in San Juan, Puerto Rico, Jesus Apolinaris Cruz’s leg hurt so much he could barely sleep. “All day,” the 13-year-old recalls. “It was constant pain.” His parents took him to two local pediatricians, who examined him, drew blood, tested his platelets. No diagnosis. Finally, in April 2016, a physician ordered an MRI. No wonder Jesus’s leg hurt. He had a large, cancerous tumor lodged in his hip.

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Webchat to highlight what’s new in pediatric brain tumors

pediatric brain tumors, child MRI

Last September, the National Center for Health Statistics reported that brain tumors have overtaken the much more common leukemia as the leading cause of death from pediatric cancer. Although progress has been made and the promise of more progress is on the horizon, the cure rate for childhood brain tumors lags behind a number of other pediatric cancers.

As pediatric neuro-oncologist Peter Manley, MD, of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center told Live Science, new research on cancer genomics “is so impressive that my feeling is that we will continue to see a decline in deaths.”

To mark Brain Tumor Awareness Month, Mark Kieran, MD, PhD, clinical director of the Brain Tumor Center at Dana-Farber/Boston Children’s, will host a webchat on Monday, May 22 (3:30 p.m. ET). The live chat will highlight the latest research and treatments for pediatric brain tumors. Here’s a look back at some recent developments:

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GALLERY: Forecasting the future of pediatric hematology/oncology

Title image for pediatric hematology/oncology predictionsRecently, the annual ASPHO (American Society for Pediatric Hematology/Oncology) meeting brought together more than 1,100 pediatric hematologists and oncologists, including a team from the Dana-Farber/Boston Children’s Cancers and Blood Disorders Center. Some of the delegates from Dana-Farber/Boston Children’s included:

Based on their discussions with their peers, these are their key takeaways from the meeting:

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New dataset reveals the individuality of childhood cancers

Tumor cells, like the ones pictured here, have unique genetic profiles across childhood cancers
Imaging of tumor cells. A new dataset, one of the largest of its kind, contains the genomic profiles of 1,215 pediatric tumors.

Childhood cancers are rare and account for about one percent of U.S. cancer diagnoses. They differ from adult tumors in that they often arise from many more diverse kinds of cells, including embryonal tissues, sex-cord stromal cells of the ovary or testis, the brain’s neural and glial cells and more.

Yet although improved tumor detection and treatment have increased survival rates for many different cancer subtypes, more than 1,900 children across the U.S. still lose their battle each year.

A new dataset — comprising the genomic profiles of a huge array of pediatric tumors — could help change that.

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