Health Meaning

Some microbes that naturally live in our intestines could be bad for us, triggering autoimmune uveitis, one of leading causes of blindness. A new study suggests that some residents of the intestine produce proteins that enable destructive immune cells to enter the eyes.

The idea that gut microbes can promote autoimmune uveitis "was there in the back of our minds," says immunologist Andrew Taylor Eye of Medicine Boston University School who was not connected to the research. "This is the first time it has been shown that the intestinal flora seems to be part of the process."

as many as 400 000 people in the US have an autoimmune uveitis, wherein the T cells of the immune commanders-invade the eye system and damage the interlayer. All of the T cells are triggered by specific molecules called antigens and T cells which cause 'autoimmune uveitis, ocular certain proteins are the antigens. Even healthy people carry these T cells, but they generally do not swarm the eyes and cause disease. This is because they must first be triggered with their corresponding antigen. However, these proteins are not normally leave the eye. So that could stimulate T cells? One possible explanation is microbes in the gut.

mouse In the new study, immunologist Rachel Caspi of the National Eye Institute in Bethesda, Maryland, and colleagues genetically engineered so that their T cells recognized the one of the same target protein in ocular autoimmune uveitis. The rodents have developed the disease in the time they were weaned. But dosing animals with four antibiotics that killed most of their gut microbes delayed the onset and reduced severity disease. The researchers found the same effects in so-called germ-free mice, which lack the intestinal bacteria.

To test whether gut microbes have been stimulating these T cells, Caspi and colleagues added the intestinal contents of sick mice with T cell cultures This intestinal viscous substance under voltage of the cells, priming for infiltration of the eye. The team wonders if a protein released by the intestinal microbes triggered T cells, so they then added a protein-destroying enzyme in the intestine mixture. The T cell response was lower, suggesting they were responding to a protein. In another experiment, the researchers injected T cells from genetically modified mice in control mice not prone to autoimmune uveitis. If these T cells was not exposed to intestinal material, they do not cause uveitis. But 86% of the animals developed an autoimmune uveitis if they received a high dose of T cells that had been exposed to the intestinal contents of the diseased mice, the researchers report online today in Immunity .

The results suggest that some bacteria in the intestines produce proteins that closely resemble those of the eye and can switch on T cells in the intestine. "We can prove that the activation occurs in the intestine," says Caspi. The activated cells then probably go in the eyes, they come and begin to destroy.

"It is a very rigorous, and it really adds to our knowledge" about the origins of autoimmune uveitis, ocular immunologist said Russell Read of the University of Alabama, Birmingham, who n has not participated in the study. One issue researchers must answer now is why we do not have all these autoimmune reactions in our retinas, says ocular immunologist James Rosenbaum of the Health & Science University in Portland Oregon. It is possible, he says, that only certain people have bacteria that stimulate T cells or genes that could leave some people vulnerable to the disease.

Caspi and his colleagues are still trying to find out which proteins the gut T cells recognize and bacteria produce them. "I am not suggesting that popping an antibiotic pill or take a probiotic will be a solution to the disease," she said. But identification of these molecular mimetics eye protein and bacteria that they were born, could help researchers develop new ways to treat or prevent autoimmune uveitis.

Although researchers have known since 1999 that traces of the Ebola virus could remain in the sperm for months two articles published in the New England Journal of Medicine today offer more details about the frightening possibility that survivors could rekindle infection outbreaks. A study focused on nearly 100 men in Sierra Leone who survived the dreaded viral disease, while the second clearly documents a case of sexual transmission of Ebola.

In Sierra Leone study, researchers found Ebola viral RNA in semen samples from nearly half of the 93 men, they tested. The probability of finding viral RNA decreased over time from onset of the disease has increased: All nine men were tested 2-3 months after they became sick showed signs of Ebola RNA in their sperm, but the researchers found that in 26 of the 40 men whose infections had started 4-6 months earlier and in 11 of 43 men whose infections had started 7-9 months earlier. The test result of Ebola patient 10 months after the onset of the disease was unknown.

The detection of viral RNA does not mean that these survivors are home to a virus that is able to establish an infection in a sexual partner. "We do not yet have sufficient information to assess the risk of transmission through sex, oral sex, or other sexual acts of men with viable virus in their semen," the authors of Sierra Leone and the World health organization (WHO) says. the scientists from the Centers for disease Control and Prevention (CDC) in Atlanta trying to isolate the virus from samples of semen, said Nathalie Broutet, an epidemiologist for infectious diseases in WHO in Geneva and one of the authors of the study.

in the second article, researchers from Liberia and the United States provides the best evidence yet of sexual transmission. a 44-year-old woman Montserrado County was diagnosed with Ebola, on March 20 and died a week later. the country has had no cases of Ebola in the previous 30 days and there was no obvious source of infection, but the patient reported having had unprotected vaginal sex with an Ebola survivor, March 7. The man had contracted Ebola in September 2014 and left the Ebola treatment unit after testing negative for the virus in early October. A human semen sample taken in March 2015, tested positive for Ebola, and genetic analysis of the woman's virus showed that it was separate from the most recent cluster in Liberia and the neighboring countries. Above all, his virus was all but identical to the isolated survivor: A single base pair differs between the two genomes. The "one gene signatures in the sample obtained from the seed of the victim and the woman died, I really think that provides conclusive evidence," says co-author Vincent Munster, a virologist at the US National Institute of allergy and infectious diseases in Bethesda, Maryland.

Broutet CDC said sexual transmission is suspected in about 20 cases in West Africa. WHO has changed its advice to survivors in May this year, after evidence showed that the virus could persist much longer in sperm than previously thought. The guidelines now recommend the survivors to abstain from sex or use a condom for 6 months or until their negative sperm tests. Given that there are thousands of male survivors who could spread the virus through sex, "the chances of sporadic cases ignition of small epidemics is very real," says Jonathan Ball, a virologist at University of Nottingham, UK.

The papers came amid news that Pauline Cafferkey, a British nurse who fell ill with Ebola in December 2014 and survived, was in critical condition at the Royal Free Hospital in London and ongoing processing "to Ebola" after apparently suffering a relapse. All this shows that the virus has the potential to surprise the scientists, said Munster. "An epidemic of this magnitude has never happened before with the Ebola virus, so I think we must realize that the data collected from previous epidemics might not be enough."

The survivors have already endured a painful and often lost relatives, Armand Sprecher of Doctors Without Borders in Brussels warns in an editorial accompanying the two papers. "If they are then treated as outcasts and threats, we add a terrible malice on top of their suffering," writes Sprecher. "They must be treated with all the compassion we can muster."

wHO today issued a progress report which said for the second consecutive week, no new cases of Ebola virus have been confirmed in all West African countries.

Following growing criticism that researchers pay little attention to myalgic encephalomyelitis / chronic fatigue syndrome (ME / SFC), the National Institutes of Health (NIH) announced today that it is intensifying efforts to understand what causes the disease and disconcerting to find treatments for it.

NIH Director Francis Collins said science that some researchers have long been reluctant to study ME / CFS because it was an area of ​​research "tumultuous", with high-profile tracks that imploded and vocal advocacy community. The attitude among many researchers was "maybe this is an insoluble problem, we will work only on something else," said Collins. "I am pleased to say that we counter this attitude quite strongly here."

NIH did not commit new funding for ME / CFS research, but its clinical center plans to launch a study on the low after they develop symptoms related to a probable infection but not yet identified. (the symptoms are neurological and cognitive problems to immune and sleep abnormalities.) NIH also moves monitoring ME / CFS research the Office of research on women's health at the National Institute of neurological disorders and Stroke (NINDS).

defender of the disease Robert Miller, that Collins called this morning before the announcement, applauded the decision and the patient population for its effective lobbying. "for the patient population is huge," said Miller, a former coal miner who lives in Reno, Nevada, and has developed the disease in 1982 after a bout with the flu. "One of the really important things is that we are essentially be transferred out of Siberia," Miller said, referring to the passage of the health of the female branch poorly funded to NINDS.

NIH currently spends only 5 million $ disease, the US Centers for disease Control and Prevention estimates affects over 1 million Americans. His "axis of renewed research" comes after a report Institute of medicine (IOM) released in February that said "remarkably little research funding" had gone toward understanding causality, pathophysiology and treatment of ME / CFS. Collins said the report, IOM has also called for renaming ME / CFS "disease of systemic stress intolerance", a nickname that has received little traction is only one factor behind the new NIH program. "I troubled the lack of answers we have for this condition since I became director of the NIH, "said Collins, who took the post in 09.

Miller said" it would be nice if they had put a dollar amount. "on the new NIH research button, but said he was convinced by the assurance of Collins as purse strings loosen" in the past, they said: "This n 'there is not enough science to put more money in, "he said. "They do not do it now."

Collins said NINDS director Walter Koroshetz is "determined to move quickly on this," including from issuing a new request for proposals for extramural researchers. "Give us a chance to prove that we are serious, because we are," says Collins.

Of course, an ice cream sundae will probably cause your sugar levels peak in blood. But a tomato plate? Or a piece of toast? A new study reveals that different people have strikingly different reactions to the food they eat, a finding that may encourage doctors to rethink their one-size-fits-all dietary advice.

"We tend to think that obesity and diabetes epidemic is because people do not conform to what you tell them," says study author Eran Segal, a computational biologist at the Weizmann Institute of science in Rehovot, Israel. "When you see these data, you think well, maybe part of the problem is in what we tell them to do."

Most current dietary advice is based on what appears to be the healthiest average large groups of people. Nutritionists designing diets that reduce blood sugar spikes, or blood sugar, limiting carbohydrate intake peoples or by directing them away from foods with a high "glycemic index," a measure of the amount of glucose in the blood of the average person increases after eating a particular food. But the carbohydrate content and glycemic index can not offer vague assumptions about how all food will affect a particular individual.

For a better understanding of how diet and metabolism interact, Segal and colleagues examined the metabolisms of 800 people, collecting data on the composition of their blood, body measurements , lifestyle, and gut microbiome. For a week, they also watched how the participants blood sugar fluctuated in response to two simple meals provided by the researchers and the food they made for themselves

What the researchers found was striking :. Two answers glucose peoples to the same food could be as different as their meal completely different reactions, even if their own responses remained constant over time, reports the online team today cell . The researchers analyzed the data using a machine learning algorithm, which they then developed a system to predict how someone might respond to a given food.

Segal and his team then used the results to develop customized diet plans for a group of 26 people. The researchers chose foods based on those who caused the smaller peaks and greatest blood sugar. Large glucose peaks are linked to a wide range of chronic diseases, including diabetes 2, a condition in which high blood sugar makes insulin resistant body type. The plans vary considerably, with food on "good" diet of a person sometimes showing on the "wrong" diet of another person. As expected, the "good" schemes equalized spikes glucose peoples, while "bad" regimes made more extreme.

Not everyone agrees that researchers failed to appreciate the unique metabolisms of people in the past. "We have known for decades that a person will experience a greater increase in blood sugar than the other for many reasons specific to the individual," says David Ludwig, an endocrinologist and researcher at the Hospital for nutrition Boston children, who was not involved in the study. "This provides valuable quantitative data on individual factors, but the fundamental point is not new."

The analysis of the various health factors and lifestyle is precious, Ludwig said, because it will help researchers understand why glucose responses varied. But personalized diets based on the new algorithm are not ready for the clinic, he said. On the one hand, researchers have yet to pit their customized diets against generic low carbs or low glycemic index diets. Until they do, it is impossible to know how much labor customization really helps.

Such comparisons are the next stage of the project, said Segal. The researchers plan a long-term study to see if the customized diets are more effective than traditional diets in the management of blood glucose levels in patients at risk for diabetes. They also work to simplify the customization process so they can affect diets based on fewer types of information.

Eleanor Scott, a diabetologist that manages patients at the University of Leeds in the UK, said she would supply such a customization tool. As Ludwig, Scott-who was not involved in the study-isn't surprised that people vary in their responses to food; she fights with such variation in daily practice. She says the custom regimes could be extremely useful for groups of people with an extra incentive to stick to them, as recent victims of a heart attack, and pregnant women with diabetes.

"We know there are quite wide interindividual variability in responses to meal and when we approach it in a very brutal manner," said Scott. Using body measurements, behavior and bacteria from the intestine to predict how people treat food, doctors may one day be able to treat metabolic ailments with more finesse.

Nobody really knows why autism rates or autism spectrum disorders (ASD) have almost doubled over the last 10 years. Many researchers say that the jump in numbers from a greater public awareness of the condition, a neurodevelopmental disorder characterized by altered social interaction, and change the diagnostic criteria that are catching up previously undetected cases. Others are turning to environmental influences, such as exposure to toxins.

eyebrows Now, a new study raises the communities of Psychiatry and Neuroscience. It suggests that women who use antidepressants during pregnancy are almost twice as likely to have children with ASD. Many epidemiologists and psychiatrists say the study, published today in JAMA Pediatrics is wrong and will cause unnecessary panic.

The controversy is not new. Research in animals has suggested that antidepressants such as Prozac and Lexapro, a class of drugs known as inhibitors of serotonin reuptake (SSRIs) may alter certain aspects of the neurological development of the fetus. Some epidemiological studies have even found a small correlation between the use of SSRIs during pregnancy and ASD, but can largely be explained by other factors such as the severity of maternal depression, says Lars Henning Pedersen at Aarhus University in Denmark, which has no affiliation with antidepressant manufacturers. Several other epidemiological studies have shown no association between SSRIs and ASD.

In the new study, perinatal epidemiologist Anick Berard, at the University of Montreal in Canada, and colleagues used data collected over 145.456 children born in Quebec between January 1998 and December 09 to calculate the risk of autism in babies whose mothers had used one or more antidepressants during pregnancy. Among children whose mothers used SSRIs during the second or third quarter, there was an apparent dramatic 87% increase in ASD diagnosis compared to those whose mothers did not receive the drugs. For mothers who had used more than two classes of antidepressants in late pregnancy, the risk of developing ASD their child quadrupled.

The authors say the results suggest women pregnant mild to moderate but not severe depression should avoid antidepressants, if possible. For mild to moderate depression, "exercise and psychotherapy working very well," said Berard, who also serves as a consultant for plaintiffs in litigation involving antidepressants and birth defects.

some say it is a misleading and potentially dangerous conclusion, given two factors: the relatively low incidence of ASD in the general population and the fact that depression can lead to poor sleep patterns mother and food-can lead to greater risks to the health of unborn children. the incidence in the general population is about 1%, for example, for a 87% increase in the risk of ASD because of the use of SSRIs raise absolute risk of a child developing autism in about 2%. This increase, if indeed caused by antidepressants, could be offset by the benefits to the mother, which include reduced use of harmful substances and a reduced risk of suicide .

But the "critical flaw" in the new research is that it does not fully account that women with psychiatric diseases already have a higher risk of having children with ASD, said Roy Perlis, a geneticist in psychiatry at Harvard University who consults for several start-up biotechnology. Although the authors controlled for maternal depression, "they are not really reliable measurements of gravity," he said. As a result, there is no way to know if children are more at risk because their mothers were taking more drugs or because women had more severe depression. Several documents, including two of the Perlis group, examined a large number of women and children and found no increased risk for ASD after adjusting to the severity of maternal depression, he said. "the risk moves with the disease, not treatment," he said.

Indeed, given the lack of evidence whether SSRIs and other antidepressants have a causal effect on fetal neurodevelopment, it is possible that SSRIs may actually help the developing fetus whose mother is depressed, said Jay Gingrich, a psychiatrist at Columbia University, who n has no affiliation with pharmaceutical companies. "Suffice it to say that there is an urgent need for further research in this area."

An emergency committee convened by the World Health Organization (WHO) Monday will discuss what measures should be taken to Zika slow the spread of the mosquito -Internet virus spreading rapidly across Latin America. Director General of WHO Margaret Chan, announced today the group at a meeting of the Executive Board of WHO in Geneva, saying that "[t] he alarm level is extremely high." Zika virus is suspected of causing severe birth defects and occasional but severe neurological complications in adults. The virus has spread to 23 countries in the Western Hemisphere, after emerging in Brazil in May 2015.

The committee will decide whether the epidemic should be designated "public health emergency of international concern." this would allow WHO to issue travel restrictions and would also be a strong signal that more resources should be devoted to the study and the fight against the virus. The last emergency was declared in August 2014 against the Ebola outbreak in West Africa; it is still in place today. WHO has been widely criticized for taking this step several months too late.

today announced Chan is an important first step in the fight against Zika said Lawrence Gostin, an expert in global health law at Georgetown University in Washington, DC He was a writer a commentary published yesterday in the Journal of the American Medical Association who criticized wHO for acting too slowly in its response to the epidemic. "WHO recognizes the urgency of finally Zika," he said. "It's a promising start. Now we have to follow words with actions. "The Agency should provide technical assistance to the affected countries to help with the mosquito control-currently the only defense against the disease and should coordinate research on key questions about how the disease spreads, how it might impact on fetal development, and the development of vaccines, said Gostin.

these questions are the order of the day Monday Chan said today. She called the epidemic and increasing a birth defect known as microcephaly "a heartbreaking burden on families and communities." babies with microcephaly have smaller heads than normal, which usually indicates that the brain has failed to develop properly. The condition can be caused by drug use, genetic mutations, or infection in utero.

Brazil has seen a spike in cases microcephaly after Zika began to spread there. Since October, the Brazilian health authorities have registered more than 4000 cases. But a spokesman for the Ministry of Health said yesterday that these initial numbers may be too high. When officials looked closer over 700 cases, they found that 462 of them could be ruled-or babies are not microcephaly or condition could be attributed to causes such as drug abuse by mother. The authorities were able to confirm 270 cases due to infections, but so far, only six have been confirmed as positive for Zika.

The number of open questions about Zika is another reason for WHO to encourage more research and try to coordinate efforts so that the answers can come more quickly, said Gostin. "They dropped the ball on Ebola. Virus There is a real concern that WHO lacks the capacity to lead. This will give them a chance to show they can do it."

Depressed? Your inner Neanderthal may be to blame. Modern humans met and mated with these archaic people in Europe and Asia there are about 50,000 years, researchers have long suspected that genes collected from these trysts could shape the health and well-being today. Now, a study in the current issue of Science details their impact. It uses a powerful new method to scan the records of 28,000 electronic health Americans to show some Neanderthal genes variants today may increase the risk of depression, skin lesions, blood clots, and other disorders.

Neanderthal genes aren 't all bad. "These variants may protect against disease, sometimes make people more susceptible to the disease," says paleogeneticist Svante Pääbo of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany. Two other new studies have identified three genes archaic that stimulate the immune response. and the most archaic genes persist in humans were probably beneficial in prehistoric times. But some now cause diseases because of lifestyles and modern environments are so different.

people living only carry traces of Neanderthal DNA, making its impact on the most striking health. "the Neanderthal genetic contribution to present people today seem to have the greatest physiological effects I would have thought naively "says Pääbo, who helped launch this line of research by sequencing the genomes first elders, but did not participate in these studies. On average, Europeans and Asians inherited about 1.5% of their genomes of Neanderthals. Island Melanesians are an additional 2% to 3% of the DNA inherited from another extinct group, the denisovan. Most Africans lacking this archaic DNA because the interbreeding happened after modern humans left Africa.

by comparing the genomes of some Neanderthals and a denisovan with people from the 1000 genomes database, biologists have recently discovered calculation about 12,000 versions of genes of Neanderthals, or haplotypes, living Europeans and Asians. The researchers clues to the function of a handful of these haplotypes, some were thought to be involved in the immune system, or the development of skin or hair, for example. But nail their precise function is required costly studies of gene expression patterns in tissues or animals.

A breakthrough came when geneticist Joshua Akey populations of the University of Washington, Seattle, and Tony Capra evolutionary genomicist of Vanderbilt University in Nashville independently realized they could catch variants of the Neanderthal gene into a medical database, the EMR Network and genomics (EMERGE). This consortium in nine US cities linking the genetic data of patients with their medical data, in the form of specific billing codes that record diagnoses for diseases and other conditions. Emerge and allows researchers to follow the correlations between genes and symptoms in tens of thousands.

Akey and Capra joined forces and tried for over 6,000 Neanderthal haplotype in the genetic data of 28.416 adults of European ancestry. After identifying pieces of DNA inherited from Neanderthals, the team used statistical analysis to link the possession of these archaic variants at a higher risk of disease or other traits captured in the billing data, says Capra .

Research has registered a dozen Neanderthal genes could cause a significant risk of disease today. For example, a variant of the gene apparently makes it sticky and prone to clot blood. This rapid coagulation may have spelled the difference between life and death when Neanderthals hunted dangerous animals or bleeding after delivery of large-brained babies. But it can also increase the risk of blood clots and stroke, which would have been much less common in prehistoric times when most people died young.

The researchers also found a number of Neanderthal genes associated with neurological disorders, including depression, which can be triggered by disrupted circadian rhythms. have been linked to precancerous skin lesions called actinic keratoses other variants. Capra speculates that the Neanderthal brain chemistry and the responses of the skin to sunlight can both were in phase with the light conditions and lifestyles of prehistoric Europe. The head variants gene may be maladaptive now that most people live by artificial light.

Other Neandertal alleles regulate the transport of thiamine, or vitamin B1, which metabolizes carbohydrates into the cells of the intestine. Neanderthal diets rich in meat and nuts, may have ample thiamine, but people chew processed foods today can not get enough, and having the Neanderthal variant may predispose to malnutrition, Capra speculates.

The study also found Neanderthal genes associated with incontinence, bladder pain, and urinary tract disorders. And a single base change was associated with addiction to nicotine, making it the second Neandertal allele found to date to strengthen the risk of tobacco dependence.

The Neanderthal health legacy is not entirely negative. Two studies published in The American Journal of Human Genetics last month identified three archaic genes that stimulate the innate immune response, which helps defend against fungi and parasites as well as bacteria. All three have been strongly selected for Europeans and Asians, said biologist Janet Kelso calculation of Max Planck, lead author of a study. The three genes work together in subtle ways to regulate the expression of Toll-like receptors on the surface of white blood cells, stimulating the innate response probably says Lluis Quintana-Murci, population geneticist at the Pasteur Institute and the Centre french National scientific research in Paris, lead author of the other study.

These examples suggest that modern humans entered new environments that host new pathogens, they took an evolutionary shortcut picking beneficial genes from other hominids. "You've taken the variety of another species or population that more had lived," says Quintana-Murci. Neanderthals had at least 0,000 years to adapt to life in the Middle East and Europe before modern got there.

But if beneficial in the Pleistocene and those living in poor condition today, stimulate immune genes may have deleterious effects even in the United States and Europe, where people face fewer pests. Kelso found that genes archaic receptors have been strongly linked to allergies "the price today is that when you increase the immune response, it can be bad for us in terms of autoimmunity, inflammation and allergies, "says Quintana-Murci.

Neanderthals Exactly how these genes affected themselves is not always clear. "This does not mean that Neanderthals were depressed," or had more skin cancer, warns the calculation Sriram Sankararaman geneticist from the University of California, Los Angeles.

These studies are just the beginning, as researchers search for more Neandertal variants transmitted in these ancient events, and broaden their modern genome databases for hundreds of thousands. "We suspect there are many more Neandertal alleles floating out there," says Capra.

The March 2011 meltdowns at the Fukushima Daiichi Nuclear Power Plant Caused extensive human-Suffering evacuations, emotional trauma and premature Deaths, disrupted jobs and schooling. What They Have Caused not, so far, is radiation-related illness Among the general public, And Few specialists expect dramatic Increases in gold cancers --other ailments. The reactors spewed just a tenth of the radiation Emitted by the Chernobyl disaster, winds blew much of that out to sea, and evacuations Were swift. Yet one wave of illness has-been linked to the disaster-the ironic result of a well-intentioned screening program.

Months partner after the disaster, Fukushima Prefecture set about Examining the thyroids of Hundreds of Thousands of children and teens for signs of radiation-related cancers. The screening efforts Was Unprecedented, and no one Knew what to expect. So When the first round of exams started turning up thyroid abnormalities in Nearly half of the kids, of Whom more than 100 Were later Diagnosed with thyroid cancer, a firestorm erupted

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One result , says Kenji Shibuya, a public health specialist at University of Tokyo, was "overdiagnosis and overtreatment," leading Dozens of children-have to Their thyroids removed, Perhaps Unnecessarily. Activists trumpeted the Findings as evidence of the dangers of nuclear power. The large number of abnormalities Appearing so soon partner after the accident "would indicate indication That thesis children Almost Certainly received a very high dose of thyroid radiation from inhaled and radioactive Ingested iodine, 'antinuclear crusader Helen Caldicott wrote in a post on her homepage.

Scientists disagree emphatically. "The evidence Suggests que la majorité and great Perhaps all of the cases so far Discovered arent due to radiation," says Dillwyn Williams, thyroid cancer specialist at University of Cambridge in the United Kingdom. In papers and in journal series of letters published last month in Epidemiology, scientists-have attacked This is the alarmist interpretations. Many acknowledge That baseline data from noncontaminated areas Were needed from the outset and que le public shoulds have been better educated To Understand results and, Perhaps, to accept watchful waiting as an alternative to immediate surgery. MOST goal aussi say The Findings hint at a medical puzzle: Why are thyroid abnormalities so common in children? The "surprising" results of the screening, Williams says, show That "many more thyroid carcinomas than Were Previously Realized must originate in early life."

Memories of Chernobyl got Japanese autorités Worrying about thyroid cancer. The fallout from April 1986 accident That included radioactive iodine, qui-settled across swathes of Belarus, Russia, and Ukraine, Contaminating pastures grazed by dairy cows. Children Who drank the tainted milk accumulated the radioactive iodine In Their thyroids. (Adult thyroids absorb less iodine.) A 06 World Health Organization (WHO) study found That in the MOST contaminated areas, there HAD beens about 5000 thyroid cancer cases Among Those Who Were under 18 at the time of the accident, though the postponement Noted That more boxes Could emerge over time. The United Nations in 06 Attributed 15 childhood thyroid cancer Deaths to Chernobyl. Caught early, the cancer is Almost always cured by removal of the thyroid gland.

With that in mind, Japanese autorités set out to screen the thyroids of all 368.651 Fukushima residents Who Were 18 and under at the time of the accident. Most experts Were not Anticipating a bumper crop of thyroid problems. For starters, the potential radiation exposure of Fukushima residents Was slight Compared with Chernobyl victims. Moreover, the day after the meltdowns, Japanese autorités Evacuated Some 150,000 people living Within 20 kilometers of the plant, and a week later They started screening for contaminated food. Also, a limited number of Fukushima residents Were offert iodine tablets partner after the accident to absorption block of radioactive iodine from breathing contaminated air or eating contaminated food.

In 2013, WHO Estimated que le 12 to 25 millisieverts (mSv) of exposure in the first year partner after the accident in the hardest hit areas might result in tiny Increases in cancer rates. (Worldwide, people Receive average is 2.4 mSv per year from background radiation;. A medical chest x-ray Delivers about 0.1 mSv) WHO Noted That females-have a 0.75% lifetime risk of Developing thyroid cancer; it Estimated que la Highest exposures in the Fukushima area raised That risk by an additional 0.5%.

original The round of thyroid screening, started in late 2011 Was simply to Provide baseline data, As Any radiation-induced tumors Were not expected to emerge for at least 4 years. Children with nodules larger than 5.0 mm or cysts bigger than 20.1 mm underwent a second, more detailed examination and, if Necessary, fine needle aspiration. After the initial screening, children will-have Their thyroids Examined every 2 years up to age 20 and every 5 years After That.

Results Were released as screening Progressed, and right from the start There Were surprisingly high rates of abnormalities. Findings from the initial round of screening, completed in April 2015 and released in August 2015 Showed That Nearly 50% of the subjects 300.476 HAD solid nodules or fluid-filled cysts on Their thyroids. Smaller studies elsewhere hinted HAD That tiny cysts and thyroid nodules Were common in all ages. But "specialists Did not Know whether the frequency [in the Fukushima results] Was high or low," says Noboru Takamura, a radiation health scientist at the Atomic Bomb Disease Institute at Nagasaki University in Japan.

As the number of confirmed cancers pink, Grew worries about a link to radiation-and Concerns Those Gained a high-profile proponent. In 2013, Toshihide Tsuda, an environmental epidemiologist at Okayama University in Japan, started presenting analyzes at international conferences Claiming the number of thyroid cancers in the screening Fukushima Was unusually high. Last October, he published His results online in Epidemiology Concluding que le first round of screening Indicated cancer incidence rates ranging from 0 to 605 cases per million kids, DEPENDING ON location, but overall "year Approximately 30-fold increase" over the normal childhood spleen cancer. That claim fed alarming headlines.

Other scientists swift and severe Were In Their criticism. A Fundamental error, selon Several Epidemiologists, Is That Tsuda Compared the results of the Fukushima survey, qui used advanced ultrasound devices That detect Otherwise unnoticeable growths, with the Roughly three cases of thyroid cancer per million found by traditional clinical examinations of patients Who-have lumps or symptoms. "It is Inappropriate to compare the data from the Fukushima screening program with cancer registry data from the rest of Japan Where There is, in general, no such wide-scale screening," Richard Wakeford, an epidemiologist at the University of Manchester in the United USA, wrote on behalf facility of 11 members of a WHO expert working group on Fukushima health consequences. Theirs Was one of seven letters to Epidemiology published online last month That blasted Tsuda's methodology and conclusions.

To see what comparable screening Would find in a population not exposed to radiation, Takamura's team used the Fukushima survey protocol to examine 4365 children aged 3 to 18 from three prefectures Widely separated. They found similar numbers of nodules and cysts and cancer one, for a prevalence of 230 cancers per million people, As They Reported in Scientific Reports in March 2015. Other Japanese Studies Reported thyroid cancer rates of 300, 350, and 1300-even per million. "The prevalence of thyroid cancer detected by advanced ultrasound technology in areas of Japan --other Does not Differ from That meaningfully in Fukushima Prefecture," Takamura wrote in Epidemiology. In a letter to Epidemiology, claims to Tsuda-have Addressed the screening effect by adjusting the number of cancer cases to account for the lag time between When an ultrasound examination Would catch the cancers and When They Could Be Clinically APPROBATION. He Did not address --other Criticisms gold responds to repeated requests for comment from Science.

ALTHOUGH Many scientists disagree with the spin Tsuda and activists-have put on the findings, They endorse the screening effort. "A thyroid screening program Would Be expected to save lives by Detecting cancer early, whether or not the cancer Were Caused by radioactivity," says Timothy Jorgensen, a radiation health physicist at Georgetown University in Washington, DC

Yet it HAS Become the public and clear-even Many doctors Did not-have the background to put the results in perspective. Even though the vast majorité of thyroid abnormalities are safe to ignore, "finding small lesions causes anxiety patients," says Seiji Yasumura, vice director of the Fukushima Prefecture Health Management Survey. Virtually all of Those Diagnosed with thyroid cancer Have Had the glands removed, accumulating evidence-even though in Suggests Many cases it might have been better to wait, the University of Tokyo's Shibuya adds. "Careful observation Would Be the best option."

South Korea offers a cautionary tale. In 1999 the South Korean government Initiated a program in health care providers qui offert thyroid ultrasound screening for a small additional fee-and thyroid cancer diagnoses exploded. In 2011 the rate of thyroid cancer diagnosis Was 15 times what It was in 1993 yet There Was no change in thyroid cancer mortality, Heyong Sik Ahn of Korea University in Seoul and colleagues Reported in The New England Journal of Medicine in November 2014. Virtually All Those Diagnosed underwent partial or total thyroid removal. Most required lifelong thyroid hormone replacement therapy. To stem this "epidemic," Ahn and others Discourage routine thyroid cancer screening.

Williams says the evidence Suggests That thyroid growths Among children are far more common than Previously Thought and must be regarded normal. The Fukushima survey, he says, promised a "better understanding of the origins and development" of May Such growths and lead to better treatment protocols.

Fixed, 11 March, 10:40 am: A previous version of this story implied That of iodine tablets Were offert to all Fukushima residents; They Were Actually only available to a limited number of residents.

The largest imaging study ever of Health will soon offer researchers a peek inside the body British. The UK Biobank, a biological repository nonprofit Stockport, today announced its intention to scan 100,000 bodies over the next 6-8 years. The shots, taken with magnetic resonance imaging (MRI) and other conventional techniques, will be connected to various data on health and lifestyle, enabling scientists to improve understanding and disease diagnoses such as cancer, dementia, arthritis and osteoporosis and coronary heart disease.

Biobank was created in 06 by the Medical Research Council (MRC) and the Wellcome Trust. The goal was to create a resource for health researchers by collecting data such relevant health such as diet, physical activity, lifestyle, and cognitive-function as well as blood samples and DNA from half a million people in the UK. For analysis of health outcomes, these data are linked to hospital records, death records, and now individuals Health GPs.

So far Biobank has the DNA of 150,000 people and expects to have the DNA of another 350,000 at the end of the year. They have a physical activity of 100,000, taken from a watchlike monitor up to 7 days. Blood samples were analyzed for hormones, glucose, lipid markers and other aspects.

A pilot project to add biomedical images has recently been supplemented by analysis of 8,000 people. Scaling up to 100,000 will cost £ 43 million, to be paid by the MRC and the Wellcome Trust

Imaging include :.

• Heart -Bedroom diameter; the volume of blood flow; thickness of the heart wall; thoracic aorta size, shape and the stiffness
• brain -Structure and function; gray matter volume; Mapping of major brain connections
• Fat -Distribution through the body; measures of abdominal fat volume, including the liver and pancreas
• Bones -X-ray measurements of bone density; arthritis in the spine, hip and knee; vertebral fractures
• Arteries Ultrasound evaluation of the carotid arteries, which run on either side of the neck to the brain

There are many potential gains. Because the analysis will be taken by the participants who are healthy or sick, researchers might be able to identify changes before symptoms appear; it may one day improve diagnostics. They hope to identify new risk factors and perhaps improve methods of analysis themselves.

The data will be accessible to health professionals who register with Biobank. Existing data are being studied by about 2700 researchers from the UK and other countries, both in academia and industry.

"This set of advanced medical image data will be unprecedented in synergy with biological information from other studies," said Roderic Pettigrew, director of the National Institute of Biomedical Imaging and Bioengineering in Bethesda , Md. "It will reveal biomarkers that we can not get any other way and give us a better understanding of how to prevent, detect and treat the disease."

If history repeats itself, the American media will make a dee doo hoot about the first confirmed case of Zika virus transmission that occurs in the United States of a mosquito to a person. Until now, such a transfer "indigenous" has not occurred, but scientists think it is very likely to occur in the coming weeks. . Given the attention that every imported case of Zika unleashed that day see here and here and here and here and here expect the American media to go full throttle

The policy will further increase the clamor: Just two days ago, the white House Secretary Josh Earnest in his daily briefing has a map that suggests the virus blanketing half of the continental United States in mid-summer. "The map behind me is a graphic illustration of the need for immediate action by the Congress," said Earnest, urging Congress to consider 3-month-old request from President Barack Obama to pump $ 1.9 billion in emergency aid to fight against Zika.

But researchers who have studied Zika and mosquitoes that transmit it to say that the country is currently in the calm before the calm. Damaging as Zika of fetuses, they predict that indigenous transmission will only affect a small strip of land that runs from Florida along the Gulf Coast of Texas. And the dynamics of the disease transmitted by mosquitoes in the United States are so different from those of Latin America, the number of confirmed cases will probably be in the hundreds, if not that, before the spread of autochthonous stammers.

there are many mysteries about Zika and how, in particular, it behaves in pregnant women, which triggers some miscarriage and others to give birth to babies with brain disorders such as microcephaly. There are also questions about how much the spread occurs without mosquito: Zika may persist in semen and be sexually transmitted, and there is a small chance that the viral RNA in saliva, which has never been linked to infection, may pose a risk. But when it comes to species of mosquitoes that harbor the virus and the transmission cycle with humans, much is known. Experience with two other diseases transmitted by the same mosquito, dengue and chikungunya, offer insight as well.

The United States simply does not have the ingredients to the type of explosive, indigenous transmission seen in Latin America, said Thomas Scott, an entomologist and epidemiologist at the University of California, Davis. "I do not want to blow this off and leave people with the impression that you do not have to worry about it, who knows where it goes," he said. "But I do not think we'll have a transmission in the United States, mainly because of our lifestyle. We do not have as enough mosquitoes."

The temperature sensitive Aedes aegypti , the principal mosquito vector lives only in high numbers in a small part of the United States, and especially develops during the summer months when the temperature is between 25 ° C and 32 ° C. There is a lot more a . aegypti Zika to spread in Brazil, which saw up to about 1.3 million infections in 2015 alone, the United States. There is also a celebration of the available human skin, as people in warmer climates often wear tank tops, flip-flops and shorts.

Poverty explains some of Zika success in Latin America. window and door screens are scarce in many places, and homes often have stagnant puddles bathroom or in dark places that provide breeding grounds for homebound A . aegypti , which calls Scott "the cockroach" mosquitoes. "They do not fly very far from where they emerge," he said. "It's mostly people who move the virus around." Add to this mix the Latin culture: "A lot of places Zika is common, people are incredibly social, and they go all over town to see family and friends," he said, while the States United, "people often come to the house and go inside and there is air conditioning and they are watching television."

dated May 11, the US Centers for Disease Control and Prevention ( CDC) had confirmed 503 "Travel -Associated" Zika case of the United States, 10 of which involved sexual transmission. No evidence exists that a mosquito has bitten again one of these people and spread the infection to another person the country.

Scott recently collaborated on a global Zika modeling project led by Simon Hay, chief of the division of geospatial science at the Institute for health Metrics and evaluation in Seattle, Washington. the team mapped the environmental relevance for Zika on the basis of annual precipitation, temperature, areas where a . aegypti persists and conditions where Zika has already occurred.

The researchers also included data for a . albopictus- better known as the Asian tiger mosquito that can harbor the virus. In the United States, A . albopictus has a broader scope than A . aegypti. But Scott doubt he can keep the transmission cycle go because, unlike A . aegypti it can bite a human being as an appetizer, then turn to several other species to complete its blood meal. "Small changes in the biting frequencies on an appropriate host can make a big difference" to the transmission, Scott said.

The model, published online April 19 by eLife , calculated that 2.17 billion people worldwide live in areas that are ecologically suitable for Zika. High-risk areas include more than half of Latin America where the virus is circulating now-and some parts of South and Southeast Asia, northern Australia, and broadband Africa around the equator.

But the potential Zika propagation in the United States is limited. The only regions "very suitable" are Florida and parts of neighboring states to the west, including the coastal regions of Alabama, Mississippi, Louisiana and Texas.

The map at the White House release came from another document, published online March 16 in PLOS current outbreaks . The White House appears as a "month by month look at the prevalence of mosquitoes that can carry the virus from mosquito," visible as a wave of yellow, orange, and red circles wash the country in 2016 progresses. (The site of the White House Zika has an even more alarming map prepared by CDC "from a variety of sources.")

in the document PLOS current outbreaks , however, the figures indicate the "potential plenty" of the size it could be based on a population model that mosquito, which uses climate data. This potential range far beyond the actual area where the mosquito is known to live. the card includes places as far north as Denver and Salt Lake City, where A . aegypti has never been seen.

"I have no explicit guidance on the use of the image of the white House," says Andrew Monaghan, a meteorologist at the National Centre for atmospheric research in Boulder, Colorado, who led the team that made the map. Monaghan notes that "we were clearly our map above shows the relevance of seasonal climate Aedes aegypti , and is not intended to be an accurate indicator of where the mosquito is found."

Monaghan and colleagues at NASA and North Carolina State University in Raleigh agree that A . aegypti is the most abundant in the area that will from Florida to the Gulf coast of Texas. the card includes another variable that will likely fuel the spread autochthonous :. the number of travelers (represented by circles) entering the United States from Latin America and Caribbean that have local extension Zika now

Monaghan said that where Zika will most likely begin to spread in the United States are where dengue chikungunya have done as well. These areas, dark brown on the map are Brownsville, Texas, which abuts Mexico and has a land border crossing busy, and South Florida.

If history repeats itself, they may be the only places Zika virus transmitted in the continental United States.

dengue was detected in the US in 1780 in Philadelphia, Pennsylvania but indigenous transmission stopped in 1945 and did not surface again until 1980 in Texas, when a 5 years -old girl in Brownsville has been infected. In 1986, Texas had nine documented indigenous cases, four were in Brownsville, and the city was still three indigenous cases in 05. Hawaii had 122 confirmed dengue cases in 01-02. Here, the vector was not A . aegypti , but A . albopictus. Florida had first indigenous transmission of dengue in 09-10, with the Ministry of Health collecting a total of 88 cases "associated with Key West," the southern part of the state. There have been other sporadic transmissions from local, all in the south and center of the state, with a serious epidemic in 2013 that involved 28 people.

Chikungunya has so far been just as easy on United States. the first confirmed indigenous transmission occurred in Miami-Dade County, Florida, June 27, 2014. Only 10 other cases followed, as CDC reported in December 2014. All of these products in the counties of south Florida, too.

a third map, published in on Lancet January 14, seals the deal as south Florida's first real estate Zika . These researchers analyzed passengers arriving in the United States who left Brazil airports located within 50 kilometers of areas that could potentially transmit Zika year. Moreover, they highlighted US regions that had the most hospitable climate for both Aedes species that transmit Zika. Miami and Orlando are proving to be the best airports of entry for the virus. (Brownsville did not get a mention because it does not have a major airport.)

DA Henderson, an epidemiologist who helped lead the program that eradicated smallpox and advised the government of the United States on several other infectious diseases, says the threat of Zika the United States does not guarantee the degree of fear and fear that it triggered. "I can not be very excited about the whole affair," said Henderson, who is now at the center of UPMC for Safety of Health in Baltimore, Maryland.

Although it is all for the efforts against the stepped-up mosquito, he stressed that the virus causes little, if any, symptoms in most people it infects and not spread well between people. "We do not see crush the great epidemics, "he said.

Henderson, who is 87 and has seen many epidemics come and go, said the US media coverage Zika is driven in part by the relatively recent rise in laboratories . that now work on viral diseases "their inclination, in good faith, is to say," This could be a real problem "to keep money flowing to their laboratories," says Henderson. "It is not bad and I do not want virologists lacks funds, but you need to keep in perspective that some of these things to say. It's got a little out of hand. "

As genetic testing is increasingly used in the clinic to help put a name to the symptoms of a patient or to assess the predisposition of a person to a hereditary disease, genetic counselors have become more common in many parts of the world. Today, the profession is still low, but it is an area of ​​increasing opportunities that may be particularly suitable for Ph.D. scientists who want to work in the clinic and make an immediate difference for patients.

There is no one way that scientists are in transition in genetic counseling. To give some ideas on itineraries that can be successful, we looked into the careers of four scientists who completed both a doctorate and genetic counseling training. They carved their careers in their own, often exploring different aspects of genetic counseling as they go, but what they all have in common is a strong desire to broaden the impact of their scientific training and help patients any way they can.

from academia to the clinic

Sue Kenwrick spent nearly 20 years as a successful university before considering a move to genetic counseling. An incumbent player at the University of Cambridge in the UK at the time, had sought Kenwrick genes involved in monogenic diseases related to X since his postdoctoral years. But in the early 00s, with the human genome project was recently completed, she saw that the search for individual genes would soon move in large genomic sequencing centers with more power. It also found that the time had come for her to take on new challenges. So she said, "I decided to see if I wanted to change direction in the kind of science I did or change my career."

His first step was a year 1 year in a laboratory developmental biology. "It was a lot of fun and very exciting," she recalls, "but it did not satisfy my need for change." Meanwhile, she found herself more attracted to genetic counseling, a profession that she had realized to attend human genetics conference. "the type of research that I put me in contact with a large number of families with genetic conditions and their clinical geneticists, and I became increasingly interested the impact of monogenic disorders in families, "said Kenwrick. She had always had a natural curiosity about people and the different ways they handle difficult situations, and she liked the idea of ​​expanding his home and apply science knowledge to the clinic.

But, she said, "I did 't sure I would be comfortable in a consulting position one-to-one or may have the required skills. "To begin exploring these questions, she took evening program 2 years in the General Council while continuing to run his laboratory." He gave me a lot of insight into what it means to hear about people's problems and what that does to your own reactions and emotions, "says Kenwrick. She also sought advice from joining the profession of clinical doctors and genetic counselors. "The more I know, the more excited I became about using my genetic knowledge in a different way," she said.

In 03, when the British government has funded a new clinical training program 2 years in genetic counseling following a White Paper on realizing the potential of genetics in the National Health Service, Kenwrick was ready to go for it. She sought and obtained an internship.

Kenwrick had prepared his way out of academia gradually ceasing to take new students or postdocs, but leaving behind his lab and faculty position for the property has not been easy. "I was not sorry to be leaving the pain of rejection of the grant, but there were tears on the dissolution of my laboratory. Some people thought I was crazy, "recalls Kenwrick. "However, it also felt good to have more than one career in a lifetime and get out of my comfort zone. ... Now I'm really happy to have seen a different side of science. I am always in contact with many of my former colleagues and have almost stopped missing expectations of a sequencing or PCR result. "

After obtaining his Masters in genetic counseling, it has completed alongside his clinical training Kenwrick took a position as a genetic counselor with the East Anglian clinical genetics Service at Addenbrooke's hospital in Cambridge, where she now runs the consultancy service in cancer genetics. Much of his job is to counsel patients who are worried that the cancer in their family could be due to an inherited predisposition. "Cancer is very common in the population, so that many people wonder about it ... especially as the story Angelina Jolie hit the press," she said.

hereditary predisposition to cancer may be due to a single genetic modification at high risk, such as a mutation in the BRCA1 or BRCA2 breast cancer genes, but most of the time, disease is the result of multiple genetic variations that add, environmental risk factors, and a large element of luck. Kenwrick assesses the likelihood of a hereditary cause by studying the family tree of genetic and medical history, the interpretation of the existing pathology or genetic relationships from cancer patients in the family, and offering genetic testing if certain genes seem to be the likely culprits. "That's a lot of detective work," says Kenwrick.

In cases where a hereditary risk is identified, it helps patients to make decisions on possible next steps, such as surveillance or prophylactic surgery. It also contributes to the communication within families, for example, discussing with patients the best way they can tell parents, including children, on the conditions and genetic testing. "Telling parents about a genetic condition can be one of the most difficult questions," she said. "It can be very uncomfortable [for patients] to be the messenger. However, it can also be very challenging for them and their parents to have an explanation for why people have been affected by a condition and to be able to develop a plan for themselves to manage risks. "

One of the greatest satisfactions of the job is being able to follow clinical cases throughout, said Kenwrick. She remembers accompanying a couple who had repeated pregnancies affected by Duchenne muscular dystrophy through prenatal diagnosis. "I could be there for them when they made that decision about whether to have another pregnancy, whether to have another test of their pregnancy, and all expectations they have to do for the results, "she said. "Sometimes [I would] to deliver the bad news is that another affected pregnancy. But then I could be ... the one to deliver the good news when the pregnancy was healthy, and it's a very privileged position . to be "

A researcher comes full circle

Jehannine Austin own family medical history was the main driver behind her career path. Schizophrenia and bipolar disorder are common in her family, and she began a PhD in neuropsychiatric genetics with the desire to shed light on the reasons. She soon realized that many others want the same answers. "My family asked me questions like," So, is it genetic? "" What does that mean for us? "Austin says." And I find that when my PhD was absolutely great in giving me ... very narrow, deep knowledge, I did not have the scale or the communication skills to be able to explain these complex things in a way that would be useful for my family. "It also increasingly came to feel that, as a laboratory scientist," I made a small contribution to a big-picture difference, and for me as an individual, that was not enough. ... I had to be at the end of people's things. "

Thus, towards the end of his PhD at the University of Wales College of Medicine (now merged with Cardiff University), Austin-who first heard of genetic counseling at a first summer internship research cycle in the United States, went to talk to genetic counselors in the medical genetics department of the university. It also shadow some of their sessions, which "allowed me to consolidate the idea that this was what I wanted to do, "she recalls. With this confirmation, she completed her PhD in 01 and entered the genetic counseling program at the University of British Columbia (UBC) in Vancouver, Canada.

During his training, Austin saw that the services little genetic counseling were delivered to psychiatric patients, which strengthened his determination to "bring genetic counseling in psychiatry," she said. at first, she thought she would do by working directly with patients, but when she graduated, she found that no hire for this kind of work. he was told that there was no evidence that psychiatric patients and their families would be interested in receiving genetic counseling. and even if such a demand existed, there was no evidence that genetic counseling may help patients with psychiatric disorders, which like most of the most common diseases are caused by a complex interaction of multiple genes and variants and environmental factors. Until that time, genetic counseling had focused on rare diseases caused by a single genetic defect, and disorders psychiatric not an obvious fit.

Clinical, however, offered him a post genetic counselor Research in Schizophrenia Program at UBC to try to provide such evidence. She agreed, deciding that "OK, so what are the issues that are important obstacles to the realization of this, I'll look for them." She studied the value of genetic counseling for psychiatric disorders since, evidence collection to support his intuition that people are interested in genetic counseling for psychiatric diseases. "We also have evidence that it can really help people," she said, for example, by making patients feel empowered and enabling them to manage their conditions more effectively.

"on the way, I ended up getting the funded applications grant and salary support, and somehow I ended up becoming a teacher," says Austin, who is now an associate professor of medical genetics and psychiatry and a Canada research Chair at UBC. She also founded a clinic in psychiatric genetics pioneer consultation, she runs on top of his academic work full time. In addition to realizing his dream of offering genetic counseling for psychiatric patients, clinical Austin offers a place to train specialized genetic counselors and direct access to patients and their families for their research.

Austin, who is president of the National Society of Genetic Counselors, also seeks to help develop the research branch of the profession by taking only genetic counselors in his research group. "We live in a medical era of evidence based," she said, so for his profession to mature, "it becomes increasingly important for us to do research in the understanding of the effects are provide genetic counseling. "

even though it has no plans for his career to take this route when she decided to pursue genetic counseling," ... become a teacher actually turned out to be ... a very good fit for me, "she said. in addition to giving him a way to combine scientific creativity with his desire to help patients, Austin believes his genetic counseling training helped to succeed in the academia, because it makes him stand out. "people with Ph.Ds, even in human molecular genetics, there are hundreds and hundreds of us," she said. "what makes me different and what makes me attractive to funding agencies ... is that I have this unique part of my training. "

Genomics from multiple angles

When genomics is going and how the field can be useful to society are issues that have been on the sleeve Tits Hooker Gillian since she was an undergraduate student in biology. In early Hooker thought could better address these issues in a lab, she enrolled in a PhD program in molecular biology, cellular and development at Yale University in 00. She loved the research environment, but " towards the end of my PhD, "she said," I wanted to find something that felt ... existentially meaningful, something that connected me to the very important, the big questions of life. "She also wanted to be able to help people on a daily basis. Combine these aspirations with some knowledge of genetics and "it is not too difficult to get genetic counseling from there," she said.

But actually made the transition was less simple. it took Hooker "for almost a year ... really in a position where I was ready to apply" to the master genetic counseling programs, she said. While completing her doctorate, she talked to as many advisers genetics and control of program managers as she could, which was "useful for me to understand that I was doing the right thing, to really understand what genetic counseling was," she said. she also volunteers in an outreach clinic run by Yale school of medicine where she helped patients with paperwork. the experience convinced her that she would be comfortable to work in such a framework.

But, she adds, "doing a PhD, I did not abandon the search altogether." So when it came to choose his master's program, Hooker has opted for the training program / Research Institute of Johns Hopkins University National Human Genome Genetic Counseling, which is "very focused on the research," she said. She then has to Georgetown University, where she divided her time between providing clinical genetic counseling for patients and postdoctoral investigation decision of patients and emotional responses to BRCA1 and BRCA2 testing . "Being able to work with families facing their genetic risk of cancer has a deeper meaning for research, and a more nuanced perspective on the key issues of research," she said .

After his postdoc, Hooker became associate director of the same genetic counseling training program she had obtained her degree when, in addition to training students, she also conducted research. "It was very meaningful to be able to return to a place that had been so transformative for me in my own way," she said. She also advised patients who came to the non-network diseases diagnosed after years try to put a name to a mysterious illness, explaining that new technologies such as exome sequencing could help and discuss the hopes and expectations of patients. and she worked with CLINSEQ study investigating the experiences patients who had their exome sequenced and how they responded to receiving genomic information.

His next career move came a few years ago, when, for both family and professional reasons, she decided to move out and take a job in NextGxDx, data science company in Franklin, Tennessee. the company is developing tools to help users navigate genetic testing more than 60,000 currently available and help hospitals and insurers to develop internal policies related to genetic testing. In his current role as Vice President of Clinical Development, the Working Hooker is to study "the genetic testing market and how it changes, and thinking about how we can learn from this information to better integrate genetic testing in the health care system, "she said. it also ensures that the software and its enterprise database grows are intuitive and useful for clinicians. This requires the maintenance of links with the clinical world, she sees as a benefit of employment.

for Hooker, the greatest challenge of working in a field like genetic counseling is to choose where to spend his time. in the US, at least, "there are so many opportunities, so many things you could do," she said. "I would have five parallel lives so that they saw me patients, and one of me could teach and educate, and one of me could do research on genetic counseling. [T] hen on top of it all, I absolutely love what I'm doing now, working in the private sector build on [information technology] tools that will really facilitate access to genetic testing. "

But whatever form its genetic counseling takes practice, Hooker feels she is where she should be. "Working to help families who are struggling with these big issues that get into the foundations of which we as humans really takes some perspective in your life, "she said," and that's what I like genetic counseling. "

Setting standards

After obtaining a Masters in genetics Christophe Cordier worked as a clinical research technician in his native France when his boss encouraged him to consider genetic counseling. His job involved collecting data for an epidemiological study on birth defects by reading medical reports and talking to families, Cordier said his boss "felt I had a good relationship with patients and that maybe I could do more "to help.

Thus, in 06, only two years after France officially created the profession and began offering specialized training, Cordier enrolled in the master's program in genetic counseling and predictive medicine in Aix-Marseille University -still the only program of its kind in the country. Cordier was unlikely to know what the profession was all about before taking the training because it was so new in the country, he said, who made the move "a little adventurous." But he found both the program and attractive challenge, and his boss had guaranteed that he can get his job back if technician genetic counseling did not work, so he decided it was a risk take. After getting 2 years later, Cordier has divided his time between helping his boss with clinical studies and provision of genetic counseling, which were still in low demand at the time, the Mulhouse Hospital.

Wishing to spread the word about genetic counseling and to share his enthusiasm about his work with others in 2010 Cordier decided to volunteer with the French Association of genetic counselors to help establish the profession in the country. While keeping the member database as secretary of the organization, he soon realized that there were large differences in the employment status of those working in the field throughout the country. Some were identified as genetic counselors while others were employed as technicians, and wages varied widely. "I thought that doing a PhD thesis on the development of this new profession would help us all to be treated equally," said Cordier. Thus, while continuing to offer genetic counseling to patients with cancer, he undertook a PhD at Strasbourg University Hospitals.

interest Cordier soon expanded to include all of Europe, where there is great variability in the numbers, qualifications, training, and many other aspects of the profession. He joined the European Society of Human Genetics, investigating the roles and status of genetic counselors across the continent professionals. He also worked on the development of common standards, he helped implement through the creation of an accreditation system at European level for newly trained professionals. Cordier believes that today's genetic counselors community in Europe is too small to pressure decision makers ensuring truly equal professional status, even within a single country, but, he says, "we try to advance things. "

After obtaining his doctorate, Cordier decided to take a job as a genetic counselor to society of medical tests in Switzerland in Lausanne because of greater resources, autonomy and job satisfaction it offered. In his previous position, it could take over a year for patients to get their first appointment and get results. Now, he said, it can take customers through the whole process in less than a month. it also has direct access to the head of the testing laboratory, with whom he discusses every clinical case before delivering results and advise clients on the next steps. Cordier also contributes to the company's marketing efforts, sometimes visiting doctors to introduce the laboratory and testing services.

Being a true discussion partner for patients, interacting with their families, giving them answers, and work in a profession that is both rare and varied are all aspects of the work that Cordier is motivating. But, he notes, the work, which often involves "tell [families] a lot of bad news," are not for everyone. Its strategy to relieve pressure and keep things in perspective includes ensuring spending time with his family when he joined them in France for the weekend. This work can be emotionally, he said, "but when I go back to my family, because I have my three children and a wife, I managed to put this [more challenging aspect] on the side "and to achieve a satisfactory work-life balance.