“Precision medicine” looks to be heading down the same path as “big data” and “innovation”: The term is becoming so widely used that it threatens to detract from the real impact it is already having in patients’ lives.
But for children, who are still developing and have the most to gain, precision medicine is more than a bumper sticker. On the micro scale, early genetic testing—perhaps routinely, someday, in newborns—can help guide medical care, targeted therapies and preventive strategies based on a child’s genetic makeup. On a macro scale, big data from the larger population becomes a predictive tool, guiding medical decisions that could be life-altering in a still-malleable child.
“If you can make an early diagnosis, you can amplify the effects of what you do, rather than try to change the highways once they’re built,” said Wendy Chung, MD, PhD, of Columbia University Medical Center during a panel discussion last week at Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards (#PedInno15).
Funding drives biomedical research, and research drives treatment innovation. Access to funds, particularly National Institute of Health (NIH) awards, is critical to move research forward. The 21st Century Cures Act, which passed the U.S. House on July 10, could give the NIH $8.75 billion more in new grants to disperse over the next five years, the largest increase since the Recovery Act of 2009.
How would those funds be used? Can research find a better way to treat patients? Prevent disease? Disseminate advances in medicine?
In 2014, Boston Children’s led the U.S. in NIH awards. Here’s a look at how a few research teams are leveraging NIH funding to improve care for both children and adults.
A report this April rocked the scientific world: scientists in China reported editing the genomes of human embryos using CRISPR/Cas9 technology. It was a limited success: of 86 embryos injected with CRISPR/Cas9, only 71 survived and only 4 had their target gene successfully edited. The edits didn’t take in every cell, creating a mosaic pattern, and worse, unwanted DNA mutations were introduced.
“Their study should give pause to any practitioner who thinks the technology is ready for testing to eradicate disease genes during [in vitro fertilization],” George Q. Daley, MD, PhD, director of the Stem Cell Transplantation Program at Boston Children’s Hospital, told The New York Times. “This is an unsafe procedure and should not be practiced at this time, and perhaps never.”
As Daley detailed last week in his excellent presentation at Harvard Medical School’s Talks@12 series, the report reignited an ethical debate around tampering with life that’s hummed around genetic and stem cell research for decades. What the Chinese report adds is the theoretical capability of not just changing your genetic makeup, but changing the DNA you pass on to your children.
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?
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.
Single-Dose Cures for Malaria, Other Diseases (MIT Technology Review)
Pills that deliver a full course of treatment in one swallow could, or “super pills,” could simplify the treatment of diseases such as malaria and potentially produce cost savings that stretch into the $100 billion a year range, according to Bob Langer, PhD, from the Massachusetts Institute of Technology.
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.
While studying quality of care in the 1990s, Mark Schuster, MD, PhD found that few studies on pediatric quality had been conducted. The typical explanation that he was given was that the federal government wasn’t funding research into quality measures because children on Medicaid don’t drive federal health-care costs nearly as much as adults on Medicaid and Medicare do.
But Schuster, chief of General Pediatrics at Boston Children’s Hospital and William Berenberg Professor of Pediatrics at Harvard Medical School, believes there have been other challenges in measuring care quality in children. In an acceptance speech upon receiving the 2014 Douglas K. Richardson Award for Perinatal and Pediatric Healthcare Research, published today in the journal Pediatrics (PDF), Schuster points to factors including the relative rarity of many pediatric conditions and that many of the benefits of excellent pediatric care are not observed until adulthood.
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.