(New York Times) – With gene therapy, scientists seek to treat or prevent disease by modifying cellular DNA. Many such treatments are in the wings: There are 34 in the final stages of testing necessary for F.D.A. approval, and another 470 in initial clinical trials, according to the Alliance for Regenerative Medicine, an advocacy group. The therapies are aimed at extremely rare diseases with few patients; most are meant to cure with a single injection or procedure. But the costs, like that of Kymriah, are expected to be astronomical, alarming medical researchers and economists.
(Medical Xpress) – Primary care physicians spend more than one-half of their workday interacting with the electronic health record during and after clinic hours. Based on data from EHR event logs (an automated tracking feature) and confirmed by direct observation data, researchers from the University of Wisconsin and the American Medical Association found that physicians spent 355 minutes (5.9 hours) of an 11.4 hour workday in the EHR, including 269 minutes (4.5 hours) during clinic hours and 86 minutes (1.4 hours) after hours.
(UPI) – Research shows individuals with developmental disabilities experience significant disparities in healthcare quality, access, status and unmet needs. Researchers at The Ohio State University conducted a telephone survey of 42,876 adults and 10,122 proxy interviews for children under 18 with developmental disabilities and found that 14 percent of children had problems getting needed care compared to 2 percent in the general population.
(Reuters) – Texas has launched aerial attacks on mosquitoes swarming coastal regions of the state and threatening to spread disease and hinder disaster recovery in the aftermath of Hurricane Harvey. U.S. Air Force C-130 cargo planes began spraying insecticides over three eastern Texas counties over the weekend and will expand to other areas over the next two weeks, officials from the Texas Department of State Health Services (DSHS) said. About 1.85 million acres have been treated as of Tuesday, according to the department.
(Reuters) – Punjab is Pakistan’s most prosperous region, but alongside thriving sectors from farming to textiles, another business is booming — the illegal trade in human organs, say police, activists and victims. Fueled by a cycle of poverty and debt, this black market has flourished for years with traffickers preying on the poorest – many of them laborers who have helped the region prosper but have been paid a pittance in return.
(BBC) – The rather more futuristic-sounding concept of transhumanism – the idea that every human should have the right to enhance themselves beyond the so-called “norm” through science and technology – was the subject under scrutiny at a debate this week at the British Science Association Festival in Brighton. The big question being posed: do we all have the right to enhance our bodies as technology and pharmaceuticals will allow, or is that immoral? As the probably over-used term has it, would that be “playing God”? And who gets to decide?
(The Wall Street Journal) – In the 16 years since the Sept. 11 terrorist attacks, Sal Turturici has watched as friends he worked with at the World Trade Center site fell ill. Now Mr. Turturici is sick too, battling stage 4 Neuroendocrine Cancer doctors believe could be linked to his service on a medical team at the site. Though researchers say it could take decades to prove a clear link between time spent at ground zero and illnesses, they say it appears that toxins at the site heightened the occurrence of certain diseases.
(Vox) – I asked Gawande to weigh in on a question I hadn’t seen him discuss elsewhere: What role did doctors and professional medicine play in the proliferation of opioids? “We started it,” Gawande told me flatly. He argued that health providers are at the root of the country’s staggering opioid epidemic. He didn’t blame the pharmaceutical companies — although there is good evidence that they played a large role — but instead focused on how views of pain began to shift in the 1990s, with doctors urged to take their patients’ suffering more seriously.
(USA Today) – The recent news that scientists have successfully edited a human embryo to fix a potentially lethal heart defect is an exciting medical and biotechnological advance. However, the cases for and against human embryo editing are both full of hype. To work their healing magic, scientists utilized an incredible genetic engineering tool called CRISPR to modify the “broken” gene in human embryos. The ease of use and versatility of CRISPR truly represent a revolution in molecular biology.
(Sydney Morning Herald) – In a study of states with euthanasia law, published in Current Oncology, Dr J. Pereira writes that “laws and safeguards are regularly ignored and transgressed in all the jurisdictions and that transgressions are not prosecuted. For example, about 900 people annually are administered lethal substances without having given explicit consent, and in one jurisdiction, almost 50 per cent of cases of euthanasia are not reported.”
(The Guardian) – A prominent Iranian journalist has lost an eye and part of his face due to a sinus cancer that activists say was left untreated while he was kept in jail. Alireza Rajaee, a former political editor of a number of banned Iranian reformist newspapers, spent four years in prison after being convicted of “acting against the national security” and “propaganda against the state” – vague charges used against dozens of journalists in recent years.
(Nature) – More than a decade after a fraud scandal in stem-cell science rocked South Korea, scientists in the field are ramping up pressure on the government to relax the country’s strict regulations on human-embryo research — which many researchers label a ban. On 30 August, the nation’s bioethics committee held a public forum with the Ministry of Health and Welfare in Seoul, inviting 11 researchers and scholars to discuss possible changes to the country’s bioethics policies on research.
(Tech Crunch) – 23andMe is best known for its $199 at-home spit-tube DNA test, but the consumer genetics company has been making strides in the last few years to get into drug development and research. The company first began making moves early in 2015, forging a partnership with Pfizer to conduct a bit of drug research using 23andMe’s genetic data. The pact was formed in the midst of orders from the Food and Drug Administration that 23andMe cease sales of its consumer health report product, which drove a major portion of both 23andMe’s revenue and brand awareness at the time.
Journal of Genetic Counseling (vol. 26, no. 1, 2017) is available online by subscription only.
- “Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report” by Gillian W. Hooker, D Babu, MF Myers, H Zierhut, and M McAllister
- “A Rapid Systematic Review of Outcomes Studies in Genetic Counseling” by Lisa Madlensky et al.
- “Knowledge and Attitudes Regarding Non-Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden” by Susanne Georgsson et al.
- “‘I Don’t Want to Be an Ostrich’: Managing Mothers’ Uncertainty during BRCA1/2 Genetic Counseling” by Carla L. Fisher et al.
- “What Do Parents of Children with Down Syndrome Think about Non-Invasive Prenatal Testing (NIPT)?” by Rachèl V. van Schendel et al.
- “The Dynamics of a Genetic Counseling Peer Supervision Group” by Katie L. Lewis et al.
- “Parents’ Understanding of Genetics and Heritability” by Brittany Harding, Rylan Egan, Peter Kannu, Jennifer J. MacKenzie
- “Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners” by Motoko Watanabe et al.
JAMA Neurology (vol. 74, no. 5, 2017) is available online by subscription only.
- “The Catch-22 of Neuroimaging, Disorders of Consciousness, and End-of-Life Decisions” by Emanuel Cabral and Judy Illes
Science as Culture (online first, 2017) has new articles available online by subscription only.
- “Research Misconduct in the Age of Open Science: The Case of STAP Stem Cells” by Mianna Meskus, Luca Marelli, and Giuseppe D’Agostino
It Not Just One Suspect Herpes Vaccine Trial: Most Experimental Drugs Are Tested Offshore–Raising Concerns about Data
(STAT News) – But in some respects, the herpes vaccine trial isn’t all that unusual. Nearly all drug makers seeking U.S. approval today rely in part on overseas locations and populations to test their drugs, the result of a decades-long push by industry to try to cut costs and speed recruitment of patients. In fact, a STAT analysis found that 90 percent of new drugs approved this year were tested at least in part outside the U.S. and Canada.
(STAT News) – It isn’t terribly reassuring to know that doctors who might need to make life or death decisions about your health could be doing so after having been awake for so long. Would they be on top of their game at hour 16? What about hour 22? In medicine, the devil can be in the details — what if the doctor was too tired to notice something small that might not actually be that small? But according to the organization that sets the rules on how long resident physicians like me are allowed to work, the Accreditation Council for Graduate Medical Education (ACGME), this is OK. And just so we are clear, as you read this, thousands of young resident physicians are working in hospitals for shifts lasting up to 28 hours every few days and providing care to thousands of Americans.
(Medical Xpress) – Why are so many teenagers taking their own life? One factor is what I call “toxic socialization” —a process of physical or emotional childhood and adolescent abuse. Those who grow up in toxic environments are up to 12 times more likely to experience addiction, depression and to try to commit suicide.
(Philadelphia Inquirer) – As more doctors choose to work past the traditional retirement age, health systems are navigating a complex set of issues that revolve around what may sometimes be competing interests: keeping valued “late-career” employees happy and keeping patients safe. Most older doctors do good work and many choose to do less challenging work as a concession to age, experts said. But systems are testing how best to screen for the few who are slipping and don’t know it. This region’s two largest health systems — Penn Medicine and Jefferson Health — are embarking on screening programs.