“Progress in this field is limited only by the imagination of the investigators and, to some degree, by reality,” says Kohane, who also sees patients in Boston Children’s Department of Critical Care Medicine. “You can achieve really big things by thinking really small.”
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.
Bruce Zetter, PhD, wears quite a few hats: Pioneer. Partner. Teacher. Mentor. Charles Nowiszewski Professor of Cancer Biology in Boston Children’s Hospital’s Department of Surgery.
Now, he’s adding crime fighter to the list. “The biggest crime in the health enterprise is when the next cure for Parkinson’s disease, cancer or multiple sclerosis is left on the bench because the researcher completed the discovery phase and decided that was enough,” he says. “So the breakthrough never becomes a drug or test.”
When you go into Netflix to choose a movie or Amazon to buy a book, they’re ready with proactive suggestions for your next purchase, based on your past history. Isaac Kohane, MD, PhD, would like to see something similar happening in medicine, where today, patients often find themselves repeating their medical history “again and again to every provider,” as Kohane recently told Harvard Medicine.
“Medicine as a whole is a knowledge-processing business that increasingly is taking large amounts of data and then, in theory, bringing that information to the point of care so that doctor and patient have a maximally informed visit,” says Kohane, chair of informatics at Boston Children’s Hospital and co-director of the Center for Biomedical Informatics at Harvard Medical School.
Exome sequencing comes to the clinic (JAMA)
An approachable and thorough summary of the growing trend, describing the ways in which sequencing can help provide a diagnosis, the diagnostic yield (as high as 40 percent or more, depending on the population), how often the results have changed treatment decisions and the question of who pays.
Who Owns CRISPR? (The Scientist)
Excellent coverage of the escalating patent scramble for genome editing.
Can sequencing of newborns’ genomes provide useful medical information beyond what current newborn screening already provides? What results are appropriate to report back to parents? What are the potential risks and harms? How should DNA sequencing information be integrated into patient care?
Bubble wrap used for cheap blood and bacteria tests(New Scientist)
Snap, crackle, pop are the familiar sounds of bubble wrap. According to George Whitesides at the Wyss Institute for Biologically Inspired Engineering at Harvard University, the cheap packing material may be popping up in the near future as a diagnostic tool, replacing costlier 96-well plates.
Nearly half of all pre-schoolers with ADHD are on medication(Washington Post)
The American Academy of Pediatrics calls for children under 6 with ADHD to engage in behavioral therapy before taking medication. Yet according to a national survey published in the Journal of Pediatrics, nearly half of preschool-aged children are on medication for the condition, and more than a fifth were receiving neither of the recommended therapies.
Device developers tend to focus on the FDA approval process—PMAs and 510(k) clearances—while overlooking another major challenge: getting insurers to cover the device. Before approaching investors, and certainly before doing any studies, keep payers in mind, advises Maren Anderson, president of MDA Consulting, Inc., which specializes in reimbursement planning.
In the old days, doctors prescribed, and insurers paid. Under health care reform, that’s changed, says Anderson.
Last week was a good week for neuroscience. Boston Children’s Hospital received nearly $2.2 million from the Massachusetts Life Sciences Center (MLSC) to create a Human Neuron Core. The facility will allow researchers at Boston Children’s and beyond to study neurodevelopmental, psychiatric and neurological disorders directly in living, functioning neurons made from patients with these disorders.
Patient-derived neurons are ideal for modeling disease and for preclinical screening of potential drug candidates, including existing, FDA-approved drugs. Created from induced pluripotent stem cells (iPSCs) made from a small skin sample, the lab-created human neurons capture disease physiology at the cellular level in a way that neurons from rats or mice cannot.
Tools like CRISPR could give us the power to alter humanity’s genetic future. A group of senior American scientists and ethicists have called for a moratorium any attempts to create genetically engineered children using these technologies until there can be a robust debate.