Author Archives: Nature Medicine Editor

Course correction

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The following editorial appears in the November issue of Nature Medicine.

The international response to the ongoing Ebola epidemic has in many respects been more reactive than proactive. But there are changes that, if made, may shift the balance toward future readiness. 

The projections are appalling. At the time of this writing, the World Health Organization (WHO) stated that the number of new Ebola virus disease cases could reach 10,000 per week before the end of the year. The three most heavily afflicted nations—Guinea, Liberia and Sierra Leone—remain woefully underequipped to stem the tide of infection. Severe shortages in medical personnel, protective gear, treatment beds and burial teams hinder almost every aspect of the effort. Cases of transmission were also reported in the US and Spain.

One thing is clear: the international community was not prepared to respond to this outbreak. Less clear is how, with limited resources, to stop the current epidemic. But several broad areas stand out as particularly important for efforts to stem Ebola’s spread and improve preparedness for future outbreaks. Continue reading →

Ebola: a call to action

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The following editorial appears in the September issue of Nature Medicine.

The size, speed and potential reach of the 2014 Ebola virus outbreak in West Africa presents a wake-up call to the research and pharmaceutical communities—and to federal governments—of the continuing need to invest resources in the study and cure of emerging infectious diseases.

At the time of this writing, more than 2,200 people are estimated to have been infected by a new strain of Zaire ebolavirus in four West African nations, and more than 1,200 have died. Infection can cause fever, vomiting, diarrhea and internal and external hemorrhaging that can lead to death. Neighboring as well as non-neighboring countries are at risk because of porous borders and air travel of presymptomatic infected individuals, the latter having resulted in the spread of infection to Nigeria. And while the death rate—estimated at 55%—is lower than that of many previous Ebola outbreaks, the total number of cases exceeds all ebolavirus infections since 1976. We don’t know when the outbreak will end, or how far it will spread, but its control is expected to take months and may involve extraordinary measures.

Ebola virus first emerged in the Democratic Republic of the Congo (DRC) and in South Sudan in 1976 and reappeared in South Sudan in 1979, but it caused no further outbreaks until 1994. Since then, there have been several outbreaks in Africa, but none approached the magnitude of the current outbreak. The natural reservoir of the virus remains unclear, but it is suspected to be the fruit bat. However, Ebola virus also infects nonhuman primates, a species of antelope and porcupines, all of which could be sources of human transmission.

The unusually rapid and far-reaching spread of the virus during the current outbreak has been facilitated by insufficient treatment and containment facilities in West African nations that had no prior experience with Ebola; a distrust of Western medical practices; the stigma associated with infection, causing failure to seek early treatment; as well as the long asymptomatic incubation period of the virus (up to 21 days), which enables dissemination through travel.

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A victory for genes

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A version of this editorial appears in the forthcoming July issue of Nature Medicine.

The ability to patent human genes has been costly to researchers and patients, and has restricted competition in the biotech marketplace. The recent US Supreme Court decision making isolated human genes unpatentable will bring freedom of choice to the patient, and level the playing field for research and development.

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On 13 June, in a landmark decision, the US Supreme Court ruled that human genes cannot be patented. The unani- mous decision by the Court concludes a lawsuit against the molecular diagnostics company Myriad Genetics that was seeking to invalidate certain claims in three of the company’s US patents on the BRCA1 and BRCA2 genes, which were originally granted in the 1990s. This welcome ruling marks the first time that the US Supreme Court has invalidated a human gene patent.

The decision has been a long time in coming—so long that Myriad’s patents were due to expire in less than three years. And the 15-year delay has surely not aided patients who frequently benefit from healthy competition in the biotech sector or from research on BRCA genes. Yet the decision brings relief to those of us who reject the idea that an individual or corporation can own—even for a limited time—human genes and thereby control their use.

In 1994, Mark Skolnick, a future founder of Myriad Genetics, along with several other research groups, cloned BRCA1, followed swiftly by BRCA2. Myriad Genetics was founded that same year, and the company filed patents for the two genes in 1994 and 1995. Mutations in the genes are associated with increased susceptibility to breast and ovarian cancers, and Myriad has successfully translated this infor- mation into genetic testing kits. Moreover, by claiming intellectual property rights on these genes, they have precluded other companies and university-based diagnostic labs from commercializing compet- ing tests, effectively establishing a monopoly on BRCA testing.

But in 2009, the American Civil Liberties Union and the Public Patent Foundation filed a lawsuit against Myriad Genetics, the US Patent and Trademark Office and others, stating that patenting BRCA1 and BRCA2 was unconstitutional. After several rounds in lower courts, with alternating decisions in favor of and against the motion, the Supreme Court agreed in November 2012 to hear the case (Association for Molecular Pathology et al. v. Myriad Genetics, Inc., et al.).

In siding with the plaintiffs in this case, the Court’s decision rests on the interpretation of a section of the US Code governing patent law that has remained virtually unchanged since 1793. According to the Code, “any new or useful process, machine, manufacture or composition of matter, or any new and useful improvement thereof ” can be patented. Although not explicitly stated, the wording has been interpreted to mean that naturally occurring phenomena are not new or invented and therefore are not inherently patentable. In writing the Court’s opinion, Justice Clarence Thomas stated, “Myriad did not create or alter any of the genetic information encoded in the BRCA1 and BRCA2 genes. The location and order of the nucleotides existed in nature before Myriad found them. Nor did Myriad create or alter the genetic structure of DNA . . . . We . . . hold that genes and the informa- tion they encode are not patent eligible . . . simply because they have been isolated from the surrounding genetic material.”

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Patients should learn about secondary genetic risk factors, say recommendations

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Cross-posted from the Nature News Blog

Imagine getting a chest X-ray to identify the cause of a serious cough. The radiologist finds a shadow that wasn’t causing the cough but could be a tumor. In many cases, it is obvious what to do upon uncovering these sorts of secondary or incidental findings — most doctors would follow up on the search for a possible lung tumor, for example.

But genomic information presents a special case: genes are predictive, but not perfectly so, making some results murky. And many genetic diseases and predispositions to disease don’t have clear and obvious paths for clinical management, potentially making them a lifelong psychological burden.

Today, the American College of Medical Genetics and Genomics (ACMG) released recommendations for how genome-sequencing laboratories should report incidental findings after a doctor orders a full or partial genome sequence. It defines a minimum list of about 60 genes and 30 conditions that should be reported to the doctor as part of a patient’s care, whether the patient wants to know them or not. But the guidelines stop far short of recommending that all risk factors be passed on to doctors and patients.

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EDITORIAL: A long pause

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A version of this editorial appears in the February 2013 issue of Nature Medicine.

Last January, scientists voluntarily imposed a pause on research that could lead to the generation of highly pathogenic avian influenza viruses with increased transmissibility to mammals. Now, new restrictions currently under debate further risk stalling progress in avian flu research.

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In late 2011, a firestorm erupted around two papers under peer review on highly pathogenic avian influenza (HPAI) H5N1 viruses. Both identified mutations that would permit airborne transmission of the viruses to ferrets. Although the viruses were not highly pathogenic in the ferrets, the papers sparked concerns that the mutant H5N1 viruses might have pandemic potential.

The concerns are not unwarranted given the history of H5N1 infections. The case fatality rate due to H5N1 in humans exceeds 50%, yet only 610 infections have been recorded since 2003, in part because of its low capacity for human-to-human transmission. However, there is fear that avian influenza could acquire the mutations necessary to rapidly transmit among humans, similar to seasonal influenza. Therefore, a better understanding of the mutations necessary to facilitate transmission of H5N1 in mammals and their effects on the fitness of the virus is considered by many to be crucial in developing countermeasures in the event of an avian flu pandemic.

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(Not so) evil DDT — and goodbye

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A new study published Monday in Environmental Health Perspectives revives fears about the pesticide environmentalists everywhere love to hate: DDT. Researchers examined 129 women who were exposed to the pesticide as children and found that the women had a whopping 400% increase in breast cancer risk.

This isn’t the first time the link between breast cancer and DDT has been examined, but previous studies were either inconclusive, questionable or found no link. The difference this time, according to the researchers, is that these baby boomer women were exposed to the pesticide in the 1950s and 60s, before they were 14 years old. The age of exposure has a great deal to do with breast cancer risk, apparently.

I have some doubts about the study because of its size, but even if it is confirmed by other research, it’s important to emphasize that the study was looking at women who were exposed to the pesticide as it was used in the 1940s and 50s, when it was sprayed widely — one might say recklessly — for agricultural purposes. That’s now banned in most parts of the world.

Where it is used, DDT is sprayed indoors, in very small quantities, for malaria control. And in fact, it’s the most powerful tool available against the mosquitoes that spread malaria. That’s why, despite its sketchy reputation, the WHO and others decided to support its use in Africa, as I reported last summer. Studies like this are often misused and misinterpreted. But the consequences of dismissing DDT’s benefits are far too serious to contemplate.

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On a completely unrelated note, yesterday was my last day as senior news editor at Nature Medicine. As of next week, I’m joining the Simons Foundation, where I’ll be helping to create an online community for autism researchers. It’s been a pleasure contributing to this blog, however infrequently I’ve done it lately. I hope you’ve enjoyed reading it — and will join me on my personal blog, which I hope to have up and running sometime soon.

Biodefense and defensiveness at Texas A&M

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Last week the Centers for Disease Control and Prevention issued their final report on the lab mishaps at Texas A&M University, a damning 21-page laundry list of the university’s incompetence.

The report also details the corrective actions necessary to get the biodefense labs, which have been shut down for more than two months, up and running again.

Speaking at a press conference earlier today, Eddie Davis, the university’s interim president, said university officials weren’t happy about the level of compliance.

I wrote about this story for our September issue, but in short, the problems at Texas A&M began in February 2006 when a researcher at Texas A&M University stuck her head and arm inside an aerosol chamber to spray the walls with disinfectant and developed the bacterial infection brucellosis. The university managed to keep the incident under wraps for over a year but the CDC eventually found out and ordered the labs closed.

The CDC’s report finds among other things that “administrative controls to prevent workers from being exposed to biohazards were not adequate” and that “most of the workers assigned to support the high-containment labs were unaware of the potential hazards of their work environment.”

These are serious charges but at the press conference, Davis seemed defensive rather than contrite. He claimed that missing vials of dangerous agents were likely to have been the result of inventory problems and later added, “Other institutions under that same level of review would probably have findings that could be reportable to the CDC.”

That’s a sobering thought given the extent and seriousness of the safety breaches at Texas A&M. For all our sakes, I hope he’s wrong.

Posted on behalf of Cassandra Willyard, Nature Medicine’s news intern.

Justice — 70 years late

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Last month the state of Iowa shelled out $925,000 to settle a lawsuit filed in 2003 by a handful of people who, 70 years ago, became unwitting participants in a stuttering study that left them psychologically scarred. For some, the money came too late. Three of the six study participants represented in the lawsuit had already died. The cash went to their sons and daughters via their estates.

The trial, which was later dubbed “The Monster Study,” began in 1939. At that time (and to some extent today), stuttering was thought to be an inherited disorder. But renowned speech pathologist Wendell Johnson, himself a stutterer, had a hunch that kids could be made to become stutterers simply by being labeled as such.

To test his theory, he and his team hand-picked 22 children from the Iowa Soldiers’ Orphans’ Home—10 stutterers and 12 not—to participate. The children were subjected to either negative therapy (“you are a stutterer and need to work on your speech”) or positive therapy (“you speak like a completely normal child”). Though only 5 children were true stutterers, 11 children in the study were told they had a speech problem. Johnson’s grad student Mary Tudor also offered “helpful” advice: don’t speak if you can’t speak correctly; take a breath before you say a word if you think you’re going to stutter; stop and start over; put your tongue on the roof of your mouth; watch your speech all the time.

Not surprisingly, whatever ability the children had to speak fluently evaporated quickly. Some resorted to talking in haiku-like phrases (There’s a jar. There’s a fox. Got a coat on). Some stopped speaking altogether.

No one can deny that the experiment was cruel and inhumane. But that was 70 years ago. Today there are ample measures in place—institutional review boards, ethics guidelines, informed consent — designed to keep studies ethical. Monster studies are a thing of the past.

Right?

Posted on behalf of Cassandra Willyard, Nature Medicine’s news intern.

(Bio)piracy in Brazil and elsewhere

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Biopiracy=stealing (indigenous) knowledge without proper compensation or credit in return.

Today’s New York Times carries a fascinating story about Marc van Roosmalen, a primatologist credited with discovering five species of monkeys and a new primate genus, who has been sentenced to nearly 16 years in a Brazilian jail.

van Roosmalen, one of Time magazine’s “Heroes for the Planet” in 2000, is charged with, among other things, taking monkeys from the forest without permits and offering to name new species after wealthy donors — a practice that is historically common in science, as the Times article points out.

Scientists are rallying to his defense, and 287 of them have signed a petition protesting his sentencing and saying it is indicative of the trend of government repression in Brazil. The government is apparently going overboard in its attempts to prevent biopiracy and, some say, making an example out of van Roosmalen.

This is all well and good. But this article is essentially a rehash of one that appeared in Nature three weeks ago. As anyone who works for scientific journals knows, this is par for the course. Articles that appear in Nature and Science routinely come out slightly modified in newspapers like the Times. And I suppose that’s fair enough. But my complaint here is that nowhere in the article is the acknowledgement that Nature first reported the story.

I’ll let the irony wash over you.

P.S. I particularly like the picture that ran with the Times article of this snake. Very eye-catching.

monkeys_snake.190

Harvard’s full coffers

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Not that this news will make anyone feel better, but Harvard University is richer than ever before. The unversity’s endowment grew more than $5 billion during the 2007 fiscal year to reach a whopping $34.9 billion.

Am I the only one who is shocked by that? Just for comparison, the GDP (or purcashing power) of Burkina Faso, which is as you know, an entire country, home to 14 million people, is $18.76 billion.

The rich of course get richer because they can afford the best. The company that manages the Harvard endowment apaprently posted a 23% return on its investments. I don’t suppose they’d consider managing my measly portfolio.