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?
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.
Protection Without a Vaccine(The New York Times)
Scientists at the Scripps Research Institute have successfully used a type of gene therapy to make monkeys resistant to HIV. Could this be applied to other diseases for diseases for which there is no vaccine?
More about that doctor shortage, er, poor distribution of physicians(The Washington Post)
On Tuesday, the American Association of Medical Colleges released a report predicting a national physician shortage of 90,000 doctors by 2025. But it may be that we have more of a distribution problem than a volume problem; we need more incentives for doctors to practice in medically underserved areas.
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.
But like nature, business abhors a vacuum, and longs to fill it. Many companies and institutions have already jumped into the LDT ring, offering up genomic or pharmacologic services that they say would help guide patients’ and doctors’ treatment decisions and improve outcomes. Especially for patients with cancer.
How solid is the science behind these claims? And do vendors do a good job disclosing the strengths and weaknesses of personalized medicine? Those questions form the core of a study published this week in the Journal of the National Cancer Institute.
Can you describe your work and its potential impact on patient care?
We modeled a form of heart-muscle disease in a dish. To do this, we converted skin cells from patients with a genetic heart muscle disease into stem cells, which we then instructed to turned into cardiomyocytes (heart-muscle cells) that have the genetic defect. We then worked closely with bioengineers to fashion the cells into contracting tissues, a “heart-on-a-chip.”
How was the idea that sparked this innovation born?
This innovation combined the fantastic, ground-breaking advances from many other scientists. It is always best to stand on the shoulders of giants.
Patrice Milos, PhD, is president and CEO of Claritas Genomics, a CLIA-certified genetic diagnostic testing company spun off from Boston Children’s Hospital in 2013.
A child is sick, showing symptoms her parents cannot identify. Something is seriously wrong, but what? The family turns to Boston Children’s Hospital for answers. Yet, even with today’s medical advances, a precise diagnosis often remains elusive.
The Human Genome Project has sparked innovation over the last 14 years, and as President Obama’s Precision Medicine Initiative asserts, today genome science offers patients new hope for answers.
Initially, cancer will be the major medical focus of this initiative, as cancer is a genetic disease—a genomic alternation of the patient’s normal tissue DNA.
Vector’s picks of recent pediatric healthcare, science and innovation news.
Encryption wouldn’t have stopped Anthem’s data breach(MIT Technology Review) Hackers got their hands on the personal information and Social Security numbers of 80 million people when they broke into the network of health insurer Anthem health. But encryption alone wouldn’t have been enough to keep those data safe.
Vector’s pick of recent pediatric healthcare, science and innovation news.
The problem with precision medicine(The New Yorker)
President Obama’s recently announced plan to invest $215 million in precision medicine – which uses DNA testing to personalize medical care- has many in the medical community cheering. Others, however, are concerned that DNA sequencing is still far from optimized and many of the best doctors remain unfamiliar with how to appropriately integrate genetic results into their care plans.
Schools may solve the anti-vaccine parenting deadlock(The Atlantic)
The recent outbreak of measles in the U.S. shed light on the growing number of parents “opting out” of vaccinating their kids. Public schools are fighting anti-vaxxers in the courts- and precedent is on their side.