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Science Policy Around the Web – April 18, 2017

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By: Nivedita Sengupta, PhD

Source: pixabay

DNA Testing

23andMe Given Green Light to Sell DNA Tests for 10 Diseases

On April 6th, the US Food and Drug Administration (FDA) approved the first at-home genetic test kits, which can be sold over the counter in pharmacies, to determine the risk of developing certain genetic diseases. Since 2006, 23andMe, a company based in California, has been analyzing DNA from saliva samples of its customers to provide genetic insights into their risk of developing 240 different diseases and disorders. However, in 2013, FDA was concerned about customers using test results to make medical decisions on their own, and ordered 23andMe to halt the service. In 2015, FDA eased some of the restrictions and allowed the company to reveal to their customers only the information regarding genetic anomalies that can be transferred to their children, and not any information about the person’s own disease risk.

23andMe now has permission to inform its customers about genetic mutations that are strongly associated with a small group of medical conditions such as Parkinson’s disease, late-onset Alzheimer’s disease, celiac disease and a hereditary blood-clot disorder called thrombophilia. However, it should be noted that the results from these tests are not equivalent to a medical diagnosis, as the development of a disease is also influenced by a person’s family history, lifestyle and environment.

The decision made by the FDA paves the way for a wave of do-it-yourself diagnostic tests, which will be flooding the market in the coming years. “It’s a watershed moment for us and the FDA,” says Kathy Hibbs, chief legal and regulatory officer at 23andMe. However, there are concerns regarding the limits of medical knowledge among common people to understand and interpret the results and the limitations of these tests, which could lead to misinterpretation of the results and complications. (Amy Maxmen, Nature News)

Neonatal Care

Giving Newborns Medicine is a Dangerous Guessing Game. Can We Make it Safer?

Medical emergencies in neonates are on the rise. It might be surprising for many parents to know that 90% of the medications administered in a neonatal intensive care unit are not medically approved by the FDA for use in newborns. Neonates are routinely treated with drugs that are not adequately tested for safety, dosing, or effectiveness. This is a global problem, and many factors contribute to it. Firstly, parents and doctors are afraid of enlisting newborns in clinical trials. Secondly, pharmaceutical companies are afraid to test drugs on neonates as the risk of liability is very high. It is also a small market, so pharmaceutical companies may not make money by getting drugs approved for neonates.

In 2015, an FDA funded nonprofit organization launched two global efforts to encourage clinical trials in newborns. One of which is the International Neonatal Consortium (INC), which published a guide to clinical trials in neonates last year. Dr. Jonathan Davis, Director of INC said, “We’ve got to do something.” Without information on drug data for newborns, “we can’t be certain which drugs, in which doses, to use when.” Under the current system, doctors are making decisions based on either anecdotes or intuition, which essentially means that every sick newborn is an uncontrolled, unapproved study without the guarantee of seeing improvement. No data collection is done, thus not providing any information for treating other infants around the world.

Physicians often take decisions by scaling down from how medications are used in adults. But this can be fatal and lead to disasters as we have seen in the past, with the use of the antibiotic chloramphenicol in the 1950s, and the preservatives benzyl alcohol and propylene glycol in the 1980s. Infants are not tiny adults, and they adsorb, metabolize, and excrete drugs in different ways than adults. The majority of studies done in neonates in recent years have not been able to establish efficacy. More studies need to be done, and this requires proper designing of clinical trials with reduced risk, and eliminating unnecessary interventions. (Megan Scudellari, STATNews)

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April 18, 2017 at 10:45 am

Science Policy Around the Web – February 19, 2016

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By: Fabrício Kury, MD

Affordable Care Act

Obamacare supporters don’t like talking about it — but the individual mandate is working

Among the many goals of the enormous piece of legislation that is the Patient Protection and Affordable Care Act (PPACA), one is to deliver universal health care access in a nation that often ranks no. 1 in the ranking of cost of health care per capita, and without flirting with socialist-minded models such as single-payer health care that would have failed to pass in Congress. Because it is so expensive, health care in the U.S. is largely paid for via health insurances, which act as pools of the risk of needing healthcare and dilute the cost among all insured individuals. However, in a free capitalist market, the health insurances suffer from the fundamental problem of adverse selection, in which only the people who need health care purchase insurance, while those who are mostly healthy opt not to. This becomes a “death spiral” that leads to financial insolvency of insurance companies even despite them going to extreme lengths in denying insurance coverage to individuals expected to be costly. To address this, the PPACA prohibits insurance companies from denying coverage on the basis of pre-existing conditions and at the same time addresses the problem of adverse selection by making it mandatory that everyone (with few exceptions) must have health insurance or otherwise face a financial penalty – the so-called “individual mandate”. Recent statics on enrollment in the ACA show that the financial penalty aspect is working to encourage young, otherwise-healthy people to sign up, exactly as it was intended. (Sarah Kliff, Vox)

Technology and Health Care Policy

When Software Tries to Eat Regulation

In the era of disruptive innovation, billion-dollar unicorns, there-is-an-app-for-that mindset, it is no surprise to hear that ”every smart tech person I know is working in healthcare,” the $3 trillion industry that occupies more than $1 out of every $6 spent in the entire U.S. economy. Underpinning digital revolutions such as Uber, Airbnb, Spotify, even Wikipedia, lies the concept of delivering value in a dramatically rethought manner that longstanding behemoth corporations fail to compete with. Health care, however, cannot be provided by a team of youngsters in a garage because what is at stake is more serious than whether or not you get to find a cab when you need one. Health care is delivered amid walls of regulations that protect patients and assign liability, and health care consumers are not necessarily looking forward to risking security in favor of imaginative, cheaper alternatives. Since 2013, the Food and Drug Administration (FDA) has laid out regulation for responsible innovation in mobile health and followed up final guidance this year, while the HHS Office for Civil Rights offers guidance on adhering to HIPAA for health app developers. In this article, the examples of Zenefits, Theranos and 23andMe demonstrate that the FDA has consistently made clear that the “Ubers” of health care must exist within the same legal framework that safeguard the existing U.S. health care delivery models. (Erin Griffith, Fortune)

Fee-for-Service Heathcare

The Hidden Financial Incentives Behind Your Shorter Hospital Stay

In basically any U.S. market, if you purchase a product and it breaks too soon, you either get a new one or you receive your money back. In U.S. health care, though, up until 2012 if a patient was discharged from a hospital, but soon had to be re-admitted due to a preventable problem such as a poorly disinfected surgical wound, the hospital profited again from the new patient admission. The 2012 Medicare’s Hospital Readmission and Reduction Program, part of the Patient Protection and Affordable Care Act (PPACA), financially penalizes facilities that fail to meet historical measures of what is considered an acceptable rate of re-admissions, but this has been bringing the adverse effect of “workflow gymnastics” to make patients not be re-admitted or at least, not get counted as so. Another approach, the Bundled Payments for Care Improvement initiated in 2013, extends the concept of a single payment per diagnosis to include all care needed by the patient including out-of-hospital care. While these approaches seem to have been successful, they are still built on top of the fee-for-service rationale, where health care is paid for by the number (volume) of treatments provided. The American Hospital Association (AHA) affirms there exists considerable agreement that fee-for-service is one of the major culprits in the decades-old unrelenting upward trend in the percentage of the U.S. gross domestic product that is spent on health care. The opposite model of fee-for-service is capitation, where providers are paid a fixed price to provide all care to a group of individuals regardless of the volume of the care provided. The ACA has made capitation a possible alternative for some types of Accountable Care Organizations, however it is not mandatory, the programs are still temporary, and their details must evolve from the failed capitation models of the 1990s. (Austin Frakt, The New York Times)

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February 19, 2016 at 9:00 am

Science Policy Around the Web – November 10, 2015

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By: Daniël P. Melters, PhD.

Infectious disease

Cattle trial cuts human sleeping sickness

In addition to HIV and malaria, sleeping sickness is another serious infectious disease causing major health problems in sub-Saharan Africa, resulting in many thousands of infections each year. In total over 65 million people are at risk of infection. The disease is caused by the protozoan parasite from the genus Trypanosoma, where Trypanosoma brucei gambiense accounts for more than 98% of all reported cases. The parasite is transmitted via tsetse flies. The people most affected by this parasite live in rural areas, where they are in close contact with life-stock. These life-stock hold an important step in the life-cycle of Trypanosoma. To make matters worse, diagnosis and treatment require specifically skilled staff, resulting in only about 30% of all infected individuals receiving treatment following a diagnosis.

A collaboration between the University of Edinburgh (UK), Makerere University (Uganda), and the Ugandan government has tried to tackle the problem by injecting 500,000 cows with a parasite killing agent in addition to regular fumigation with insecticide to qualm the number of tsetse flies. The number of people diagnosed with sleeping sickness went down by 90%. Following this successful trial the program will be expanded to cover the whole of Uganda, including the treatment of 2.7 million cattle. (SciDev.Net)

Precision Medicine Initiative

Privacy Risks from Genomic Data-Sharing Beacons

One of the corner stones of President Obama’s Precision Medicine Initiative is the broad sharing of medical data between many scientists, albeit in a responsible manner. In their recent report, the NIH Precision Medicine Initiative Cohort Program (PMI-CP) workgroup advised the creation of a “hub-and-spoke” model that has a Coordinating Center to provide safeguards to facilitate data access, data normalization, and participant engagement. Part of this dataset is genomic data from patients. One major concern about genomic and genetic data is that this can be used to identify the donor, even when the genomic data is made anonymous early on. A recent article by Shringarpure and Bustamante in the American Journal of Human Genetics provides evidence that it is not only possible to re-identify to whom an anonymous genetic ‘beacon’ belongs to, but also identifies their relatives with just 1000 single-nucleotide polymorphisms (SNP)s. A beacon is a web server that answer allele-presence queries in a binary manner. This might pose a serious privacy-concern for potential participants in the PMI-CP. This concern is not limited to the PMI-CP either. Recently the American Association for Cancer Research (AACR) rolled out their Project GENIE where US and European research institutes will share their cancer genomes to catalyze the development of more precise cancer treatments. Nevertheless, Shringarpure and Bustamante do make several suggestions to continue to safeguard patient privacy. (American Journal of Human Genetics)

Direct-to-Consumer Genetics

Another Genetic Testing Company in Hot Water with the FDA

In November 2013, the US Food and Drug Administration (FDA) warned the direct-to-consumers health testing company 23andMe that they needed to comply with federal regulations with respect to approval for medical devices (section 201(h) of the Federal Food Drug and Cosmetics Act). 23andMe offered a saliva-based genetics test that provided participants with an ancestry-based analysis of some of genetic markers, in addition to various health-related genetic variations (SNPs). The FDA is of the opinion that the latter one required approval by them as a medical device. Seven months after their warning, the FDA received an application from 23andMe. Recently, they obtained the federal seal of approval for a few of their health-related genetic tests.

23andMe is maybe the most well known of these direct-to-consumers genetic testing companies, but they are certainly not the only ones. On November 2nd, the Louisiana-based DNA4Life Company received a similar notification from the FDA. Just like 23andMe, DNA4Life has held the position that they do not need FDA approval to sell their genetic test kit. However, the FDA maintains that the genetic test, which predicts how patients will respond to 120 of the most common medication, meets the definition of a “medical device” and requires that the company either provide evidence of FDA approval or present why they do not need approval. DNA4Life has not yet publicly responded to the FDA notification.

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November 10, 2015 at 12:00 pm

Science Policy Around the Web – October 16, 2015

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By: Sylvina Raver, Ph.D.

Photo source: pixabay.com

Nutrition Policy

How agriculture controls nutrition guidelines

Every five years, the nutritional recommendations that help Americans make healthy dietary choices are revised to reflect the current state of nutritional and health science. Although only 4% of Americans adhere to these Dietary Guidelines for Americans (DGAs), DGAs have a huge impact. For example, physicians routinely use them to advise patients on how to stay healthy. DGAs also affect billions of dollars in government spending as they inform meal content for military personnel, those helped through the Women, Infants and Children (WIC) program and the Supplemental Nutrition Assistance Program (SNAP), and US children who are served public school lunches.

The process of updating DGAs involves compiling the recommendations of the Dietary Guidelines Advisory Committee (DGAC), a panel of scientific experts who distill thousands of scientific studies into an advisory report, with comments from the public and input from federal agencies. For the first time, the 2015 DGAC report recommended that sustainability of food sources be considered in the final 2015 DGAs. Sustainable diets are defined by the United Nations as those with “low environmental impacts which contribute to food and nutrition security and healthy life for present and future generations,” and the recommendation to consider sustainability is within the statutory bounds of the DGAC as defined in 1990. Proponents of the sustainability language emphasize the importance of considering the environmental impact of food production, and argue that nutrition is influenced by agricultural practices; for example, wild-caught fish or grass-fed beef is generally more nutritious than farm-raised fish or corn-fed beef. Opponents argue that sustainability is beyond the scope of the DGAC and accuses the committee of writing the recommendations from a political perspective rather than a scientific one.

Unsurprisingly, considering the extent of government funding that is influenced by the DGAs, the 2015 DGA revision process has come under constant attack by the agricultural industry. On Wednesday October 7, during a meeting of the House Committee on Agriculture, chaired by Representative Mike Conaway of Texas, Secretary of Health and Human Services Sylvia Burwell and Secretary of Agriculture Tom Vilsack conceded that the 2015 DGAs were not “…the appropriate vehicle for this important policy conversation about sustainability” as a “matter of scope,” and that sustainability would not be a factor in the 2015 DGAs. The sustainability debate will likely resume in 2020 when the DGAs are next revised.  (James Hamblin, The Atlantic; Kathleen Merrigan et al., Science; Sandra Hassink & Steven Stack, The Hill)

Scientific Funding

Neuroscientist team calls for a National Brain Observatory

A team of six influential neuroscientists has proposed the creation of a national network of neurotechnology centers that they’re calling the National Brain Observatory. The same group of scientists, dubbed “the Kavli six” due to their affiliation with The Kavli Foundation, is credited with drafting a proposal to map the activity of the living brain that would become President Obama’s Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative announced in Spring 2013. The first round of BRAIN funding was awarded mostly to individual labs or multi-lab research teams. In an opinion article published October 15 in the journal Neuron, the Kavli six call for the next step in the BRAIN initiative: a coordinated effort to synergize the discoveries made by the multiple individual laboratories funded by BRAIN. The scientists believe that the technological challenges facing neuroscience necessitate large investments in advanced technologies that are beyond the scope of any individual lab or research institution, similar to the national telescopes and particle accelerators used in the fields of astronomy and physics.

The goal of the National Brain Observatory proposal would be to expand shared access to four types of expensive technologies required to map the brain’s structure and activity: 1) large scale electron microscopes, capable of magnifying objects by more than 10 million times; 2) fabrication facilities to develop nanosized electrode systems capable of recording the activity of large networks of neurons with minimal damage to brain tissue; 3) new optical and magnetic resonance imaging (MRI) facilities to monitor the dynamics of neural circuits in real time; and 4) advanced electronic storage and computational data mining to collect and analyze vast amounts of data.

The Kavli six suggests that such technologies could arise from existing Department of Energy (DOE) National Labs around the country, such as Argonne National Laboratory in Illinois, or they could be housed in newly created facilities. The group argues that the experimental challenges being undertaken by the BRAIN Initiative, and by the neuroscience field at large, can only be surmounted through “highly coordinated, multi-investigator, cross-disciplinary efforts” such that a National Brain Observatory would permit. (Emily Underwood, ScienceInsider)

Genetic Testing

The crowdsourcing site that wants to pool our genomes

Two geneticists have launched a new crowdsourcing science project to collect the genetic data generated by direct-to-consumer (DTC) companies like Ancestry.com and 23andme.com. The project, called DNA.LAND, is a non-profit website created by Drs. Yaniv Erlich and Joe Pickrell and is affiliated with the New York Genome Center of Columbia University. DNA.LAND urges potential users to “Know your genome; Help science,” and the platform is designed to give participants ancestry and relationship data, as well as help to fill in missing sequences of DNA overlooked by DTC companies through a method called imputation. Although some of these functions are already provided by DTC companies, these companies compare users’ genetic information within individual company databases, and customers may miss out on connecting with relatives who have had their genetic information sequenced elsewhere. DNA.LAND compiles genetic information from multiple DTC companies, thus creating a dataset that is beyond the scope of anything amassed to date. To the extent to which users consent, scientists can then use this vast pool of genetic data to tackle research questions that require very large sample sizes. The project’s founders also envision linking DNA.LAND data with that from other sources, such as from activity tracking devices like Fitbits, or from social media activity that might indicate someone’s sleep patterns or mood fluctuations.

Privacy concerns are obvious. The site’s consent form contains minimal medical and legal jargon to describe guidelines that the founders say should lessen many of the privacy risks, such as not sharing personal identification information or genetic data with third parties without the user’s explicit permission. Still, the form contains the important caveat that the chance of a confidentiality breech is not zero and sharing data of this type carries inherent risks. Indeed, in 2013, Dr. Erlich and colleagues authored a study that revealed that men who have had their full genomes sequenced could be re-identified based on short DNA sequences found on their sex chromosomes.  To help ease users’ privacy concerns, both of DNA.LAND’s Principal Investigators adopt a “skin in the game” philosophy by making their own personal genomes publicly available. They are not alone; by October 15, less than a week after the site went live, nearly 6,000 genomes have already been uploaded. (Ed Yong, The Atlantic; Erika Check Hayden, Nature; Andrea Anderson, GenomeWeb)

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October 16, 2015 at 9:00 am

Science Policy Around the Web – April 24, 2015

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By: Danielle Friend, PhD

photo credit: DSC03602.JPG via photopin (license)

Genetic-based Drug Discovery

23andMe will invent drugs using customer data

As of March 2015, 23andMe will no longer simply be known for direct-to-consumer genetic tests. 23andMe has now made progress toward their long-term goal of influencing drug discovery. 23andMe claims to have collected DNA from approximately 850,000 consumers through marketing of their $99 kit, and the company plans to use this genetic information to identify new drug targets. Additionally, 23andMe reports that approximately 80% of the consumers that purchase the kits have agreed to allow 23andMe to use their genetic information for this research. To help lead these discovery efforts, 23andMe recently hired Richard Scheller, who formerly lead research and development at Genetech, as the chief scientific director and head of operations. In addition to these in-house efforts, 23andMe has also recently formed partnerships with pharmaceutical companies, including both Pfizer and Genetech who plan to use the genetic information to develop drugs for diseases like Parkinson’s disease. Although the partnerships with companies like Pfizer and Genetech are clearly defined to help identify drug targets for particular diseases, 23andMe plans to organize their in-house research as a broad sweep through their databases without a particular disease in mind. However, 23andMe has mentioned that they have a particular interest in metabolic and immune system disorders, eye disease, and cancer. (Mathew Harper, Forbes; Ron Winslow, Wall Street Journal)

Transparency in Clinical Trial Data

World Health Organization calls for increased transparency in clinical trials

In mid-April, the World Health Organization (WHO) released a statement recommending that findings from all clinical trials be made public regardless of the results of the study. Dr. Marie-Paule Kieny, the assistant director-general for health systems and innovation with the WHO, stated that the goals of this new mandate are to “…promote the sharing of scientific knowledge in order to advance public health.” Additionally, Dr. Kieny also stated that, “failure to publicly disclose trial results engenders misinformation, leading to skewed priorities for both [research and development] and public health interventions,” and that “it creates indirect costs for public and private entities, including patients themselves, who pay for sub-optimal or harmful treatments.” Several factors may come between completed research and the publication of results. However, unpublished results (even if negative) can lead to the perception that treatments are more or less effective than they are. The WHO mandate requires that results from clinical studies be submitted to peer-reviewed journals within 1 year after the completion of data collection, and that the work should be published within 24 months in an open access journal. The WHO also asks that “key outcomes” — limited details of the study including the number of participants, main findings, and adverse events — be made available online within a year of study completion. Although these new requirements are a step in the right direction for clinical trial transparency, it remains unclear just how the WHO plans to enforce these recommendations. (Chris Whoolston, Nature Research Highlights; Martin Enserink, Science Insider; The World Health Organization)

Ebola Clinical Trials

Lack of patients hampers Ebola drug and vaccine testing

As attention on the Ebola outbreak in Africa has increased, more resources and medical assistance have been provided. Although the number of Ebola cases has significantly decreased due to these interventions, an unexpected troubling scenario has developed: Ebola vaccine clinical trials are now having trouble testing the efficacy of their vaccines due to the lack patient populations. In fact, one company has altogether halted their trial. Chimerix, a company running a trial for their antiviral drug, brincidofovir, has decided to end the trial altogether due to a lack of patients. In fact, the World Health Organization’s weekly report from April 19 states that new cases of Ebola are now down to a total of 33. Because of the dramatic decrease in Ebola cases, the public health community faces ethical issues regarding whether more promising drugs should be prioritized and given preferential access to patients and geographical regions. (Andrew Pollack, The New York Times; Richard Harris, National Public Radio; The World Health Organization; Kai Kupferschmidt, Science)

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April 24, 2015 at 9:00 am

Science Policy Around the Web – September 12, 2014

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By: Bethanie L. Morrison, Ph.D.

photo credit: ynse via photopin cc

Genetic Testing

Lasker Winner Calls for More Genetic Testing for Cancer
Dr. Mary-Claire King, 2014 Lasker award winner and the woman who discovered the BRCA1 gene, has boldly proposed that all women over the age of 30 be screened for cancer-causing genetic mutations. The details of Dr. King’s proposal were published this week in JAMA. The current guidelines for cancer screenings suggest evaluating only those women who have a family history of breast or ovarian cancer and are in a very high risk pool. Dr. King argues that women will be better off in the future if they have this information at their disposal. They will be in a better position to make life decisions that may prevent the possible onset of breast or ovarian cancer, unlike the current practice of treating the cancer once it appears. Dr. King did make a distinction between receiving genetic screens for known cancer-causing mutations, and general genetic screens. She does not believe that women should be screened for mutations for which function is not well-defined. (Lawrence K. Altman and Roni Caryn Rabin, The New York Times)

 

Regulatory Policy

23andMe CEO navigates health regulation

Anne Wojcicki, CEO of the DNA testing firm 23andMe, recently spoke with the Associated Press about keeping a health care business afloat under the oversight of the FDA. The primary goal of 23andMe is to make genetic testing available and affordable to the general public. Furthermore, they use the testing to create a massive archive of DNA results for use in medical research. In November, the FDA issued a warning to 23andMe to stop marketing its personalized health reports, which indicate to customers any possible genetic predisposition to various medical conditions. This issuance by the FDA caused a dramatic downswing in sales, although the company is still able to sell ancestral and unprocessed DNA data. As a result, 23andMe has hired 4 new health care executives and decided to pursue FDA regulatory approval on each individual health test, a process which could take years.  Ms. Wojcicki indicated that such heavy and constantly changing FDA regulations are very scary for health technology start-up companies, a sentiment held by most of Silicon Valley, whose investors are hesitant to back health technology ventures. (Matthew Perrone, (AP), The Washington Times)

 

Ebola Outbreak

Ebola: ‘Wow, that is really tough’
In an interview with Science, Bruce Aylward, an assistant director-general at the World Health Organization (WHO), responded to the criticism that the WHO has been too slow in its response to the Ebola outbreak in West Africa. “Foreign medical teams and NGOs [nongovernmental organizations] are used to dealing with trauma and primary health care; they’re not trained to deal with pathogens,” remarked Aylward when asked why the WHO appears to have underestimated the severity of the outbreak. The WHO has put more people in the field than has ever been heard of in an Ebola outbreak. The main problem lies in the inexperience of field staff and the lack of funding for proper field hospitals required for containment of the outbreak. The notion of vaccine trials and new therapies being introduced is promising for those who would otherwise not be willing to subject themselves to this dangerous pathogen, but the WHO cannot sit back and wait for the therapies to be approved. They must act now, according to Aylward. The WHO is asking foreign medical teams, primarily from the U.S., France, and the U.K., to stop just thinking of how to help and mobilize their troops before many more people have to die. (Leslie Roberts, ScienceInsider)

 

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September 12, 2014 at 6:00 am

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