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.
Judy Wang, MS, is a program manager in the Telehealth Program at Boston Children’s Hospital.
In 2012, when I attended the South by Southwest (SXSW) Interactive conference for the first time, health tech was still an emerging field. It was the first year the world’s leading conference for emerging technology and digital creativity made any effort to include health tech programming, and the first time its Accelerator pitch event included a category for health tech startups.
Only three years later, SXSW Interactive (March 13–17, 2015) has grown to include almost 50 events related to health and medical technologies. Martine Rothblatt, CEO of the biotech company United Therapeutics, gave a keynote titled “AI, Immortality and the Future of Selves” that was both inspiring and provocative. She spoke to a world in which our 24/7 selves are increasingly being captured digitally. Audience questions captured by Twitter pondered the ethical implications of what Rothblatt called “mind clones”: future mechanical beings digitally programmed with our mannerisms, habits and memories.
Robin Chase, co-founder of Zipcar and current CEO of Buzzcar, envisions collaboration as the future of the world’s economy. Her concept, PeersIncorporated, brings excess capacity of consumer goods or assets—such as unused time or untapped data—to online platforms and apps where consumers (“peers”) provide insights that drive business growth.
Speaking recently at Boston Children’s Hospital, Chase elaborated on the concept of excess capacity, which is the basis of Buzzcar. Typically, families pay an average of $9,000 a year—$25 a day—for cars they use only 5 percent of the time. That unused time represents value and economic potential. Buzzcar’s platform harnesses that unused capacity, allowing multiple peers to supply and book cars on an easy-to-use website at a low cost.
From new longer-acting drugs to promising gene therapy trials, much is changing in the treatment of hemophilia, the inherited bleeding disorder in which the blood does not clot. Hemophilia Awareness Month comes at a time of both progress and remaining challenges.
1. Many more treatment products are being introduced, including some that last longer.
People with hemophilia lack or have defects in a “factor”—a blood protein that helps normal clots form. Of the approximately 20,000 people with hemophilia in the U.S., about 80 percent have hemophilia A, caused by an abnormally low level of factor VIII, and most of the rest have hemophilia B, caused by abnormally low levels of factor IX. Many patients with severe hemophilia give themselves prophylactic IV infusions of the missing factor to prevent bleeding (which otherwise can lead to crippling joint disease when blood seeps into the joint and enzymes released from blood cells erode the cartilage).
Hemophilia factors traditionally have such a short half-life that we tend to treat patients every other day with factor VIII and twice a week with factor IX. The first two longer-lasting products came onto the market within the past year, and more are on the way. So now, with factor IX, it is possible to get an infusion just once a week and not bleed. This is really changing how we think about the disease. So far, the longer-acting factor VIII products are not yet long-lasting enough to make as dramatic a difference in the frequency of infusions. And creating really long-acting factors remains a challenge.
Internet of DNA (MIT Technology Review)
Emerging projects in Toronta, Santa Cruz and elsewhere are working toward being able compare DNA from sick people around the world via the Internet to identify hard-to-spot causes of disease—analogous to using the “Compare documents” function in Word.
Engineering the perfect baby (MIT Technology Review)
Since the birth of genetic engineering, people have worried about designer babies. Now, with gene editing and CRISPR, they might really be possible. Bioethicists and scientists weigh in on what “germ line engineering” would mean.