Danish Archipelago launches mass sequencing plan

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Danish Archipelago launches mass sequencing plan -

Far out.
The entire Faroese population can have its genome sequenced free

Wikimedia Commons / TUBS

inhabitants of the Faroe Islands could become the first World population to offer whole genome sequencing for free, researchers announced at a meeting on personal genomes at Cold Spring Harbor Laboratory last week. The project, called Fargen, aims to sequence the entire genome of each citizen and use information for health care and research in the autonomous Danish dependency. A pilot project sequencing the genomes of 100 individuals is ongoing; if money can be found, the remaining 50,000 Faroes could follow over the next five years, scientists say.

Under the program, participants in the archipelago of 18 islands would not get individual reports, but their genome sequence would be linked to their medical records. "Doctors can then request the information when needed," says Bogi Eliasen, a political scientist at the Department of Health Faroese who runs the program. In this way, scientists hope to minimize the chances of people accidentally discovering the information they do not want to know and work around some of the ethical issues surrounding genetic testing. However, freedom of information act gives citizens access Faroese to their medical records, so that anyone truly interested in their sequence could get even .

researchers in other countries, such as Iceland, Estonia and the UK are currently building national genetic biobanks. Fargen presents particular similarities to the project launched by deCODE genetics ., a company in Reykjavik, hunting for disease genes in Icelanders But deCODE, a commercial project, has experienced financial problems, political and legal; some of his plans were approved by the Supreme Court and ice. Eliasen expects fewer problems on the Faroe Islands. The islands had a heated debate on the issue, which began in 1999, when the territory deCODE approached with a plan to include the population in his hunt for genes. This idea was rejected, but the debate resulted in a 05 law allowing the construction of a data bank Faroese, said Eliasen.

In 09, the islands have also launched a public effort to identify people with carnitine deficiency carrier (CPC), a disease that can lead to sudden death in young adults and is a hundred times more common in isolated people Faroese population than elsewhere. Almost half of citizens were deliberately selected for the genetic defect, which can be treated by supplementing carnitine. The first five genomes sequenced by Illumina, a sequencing company that manufactures machines and is involved in the project will be people with CTD.

Scientists hope that the new project will give an overview of various other diseases and population genetics of the Faroe Islands. "This project is first and foremost on improving health care for all citizens, but of course it will be very valuable for research as well," said Eliasen. The project cost would be about 50 $ millions, if sequencing prices continue to fall at the current rate. so far, we do not know where most of the money will come from, though.

scientific value of the project will depend on how many citizens sign for it, warns Markus Nöthen geneticist from the University of Bonn in Germany. "This is a bold step, but it will only succeed if enough people participate," he said. but Hans- Hilger Ropers, director at the Max Planck Institute for molecular genetics in Berlin, said it would be much cheaper and more useful scientifically to focus on patients with certain diseases. "as it is, the biggest advantage of the project can demystify the genome identifying many variations that are common in healthy adults and have little or no clinical relevance, "he said.

Ropers is convinced that other rich countries will follow suit, however, and that such projects are needed. "They will lay the groundwork for the expected implementation of sequencing the genome as a universal diagnostic test for genetic risk," he said.

While the Faroe Islands have many factors promoting implementation, including a national health care system with medical records digitized, small government, centuries worth of detailed genealogical information and a public Risk- informed genetic test there are still obstacles. How Faroese data will be open for research while protecting the information on individuals are not clear, for example. One of the objectives of the pilot phase is to find ways to ensure privacy, said Eliasen. "We are certainly not planning a Faroese Facebook genomics."

Ladies and Gentlemen, Start your Sequencers: Genomics X PRIZE takes a New Look

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Ladies and Gentlemen, Start your Sequencers: Genomics X PRIZE takes a New Look -

human DNA isolated.

National Institutes of Health

The rules of a $ 10 million jump in genome sequencing just a little easier and a little more difficult. Archon Genomics X PRIZE presented by MEDCO was created in 06 by the X PRIZE Foundation in Playa Vista, California, to promote the rapid development of cheap, accurate sequencing of the human genome for medical purposes. At the time, the goal was to decipher 100 human genomes in 10 days for an all-inclusive cost of less than $ 10,000 piece. Although eight organizations finally signed for the challenge, no fact tried to do the sequencing.

Since then, sequencing costs have fallen, putting the human genome in the range of $ 10,000. But respect the 10-day limit has remained an impossible deadline. And the foundation and the sequencing community has never really worked out how to judge the price. Consequently, they decided to start over.

Today in Nature Genetics and a New York City press conference, Larry Grant Campany Kedes and the X PRIZE Foundation put the revised challenge, which includes a period less tight and other changes.

Under the new rules, from January 3, 2013, the gun goes off on a race to sequence the genomes of 100 centenarians who are identified by the foundation. The deadline is 3 February, not January 13, but winning the full price will require that each genome costs no more than $ 1,000. Entries must also meet strict requirements for accuracy, 1 error per million bases, and completeness 98%.

"I think [that price] can achieve," said Granger Sutton, a biologist for calculating the J. Craig Venter Institute in Rockville, Maryland. "But also beat all other standards will be very difficult."

If no one succeeds, judges will award any prize in different categories as long as the entries meet certain minimum standards. If more than one group meets the requirements of the grand prize, the winner will be the one who finishes first.

The objective is to show that it is possible to sequence the human genome accurately at low cost, with the hope that the collection of this data will eventually become routine in the clinic. By choosing healthy people over 100 and making that data available to scientists, the organizers also hope the cooperation will lead to new perspectives on longevity and healthy aging, says Kedes.

The organizers and their advisers have also spent the last 2 years to come with a cost effective way to judge the sequenced genomes, inviting input from the community. They will not be comparing genomes subject to each other; instead when the contest is going on, they have already sequenced parts of 25 genomes with multiple technologies, using a variety of techniques to ensure that each base this set is correct. They will then compare quotes these corrected sequences. Accounts will also go on the costs to ensure that every penny was accounted for, said Kedes. But he still works with sequencers come with the final rules.

The foundation will be in contact with the original eight participants, but Kedes predicted that some leave because they are companies that once focused on DNA sequencing, but today changed the priorities. Other organizations who originally said they are not interested, as Illumina, now could be serious contenders, said Sutton. Since the contest will be how long, "most likely to compete are those that can change that [technology] they have," said Sutton. Again, "you can never be sure of what exists."

National University of Singapore Clears Ito Misconduct Charge

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National University of Singapore Clears Ito Misconduct Charge -

The National University of Singapore (NUS) today announced that it has found no evidence of research misconduct by Yoshiaki Ito, a high-profile cancer researcher accused of manufacturing data. However, the conclusion does not resolve the underlying dispute and long-running science-whether a gene known as RUNX3 is a tumor suppressor.

A group led by Yoram Groner of the Weizmann Institute of Science in Rehovot, Israel, published a paper in Development Mechanism in 01, in part concluded that RUNX3 could be found in the gastrointestinal tract. A year later, a team led by Ito and colleagues according to Cell paper RUNX3 suppresses gastric cancer. since the two discussed their respective positions at conferences and in publications. Groner last document claiming refute allegations of Ito appeared online Aug. 8 in EMBO Molecular Medicine . But he went further, filing a formal complaint with the university that the experimental results of Ito "could not be achieved in the first place," he said Science . In accordance with standard procedures, NUS has launched an investigation that led to today's statement:

The September 20, 2011, NUS began looking into a complaint that had received wide publicity in the lay and scientific media suggesting possible research misconduct by Professor Yoshiaki Ito. The complaint received by NUS linked to the assertion that some Prof Ito data published in 02 can not be reproduced. We have now completed our review in accordance with our research integrity procedures, and find no evidence of misconduct in research by Professor Ito. NUS notes that this issue was the subject of a long and open scientific disagreement. honest differences in interpretations or judgments of data are best addressed by further research and scholarship.

"I am very heartened that NUS rid me of research misconduct," Ito wrote in a statement. The argument on RUNX3 should continue. Ito added that the expression of RUNX3 in the human gastrointestinal tract, as the group reported, was confirmed independently by others. "All personal decisions regarding NUS Dr. Ito's not my business, "Groner wrote in an email. But it fell on its scientific pretensions." my only concern in this case is the removal of the research literature misinformation and misleading published in 02 cell paper (that of Ito group), "he writes.

Plan B Decision Ignores solid science, said FDA Head

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Plan B Decision Ignores solid science, said FDA Head -

The Obama administration took power with the promise that the policy would not trump science, but many say now that he has not always lived up to this commitment.

Fallout continues today to yesterday's announcement of emergency contraception by Kathleen Sebelius, head of the US Department of Health and Human Services (HHS). For the first time anyone could remember, HHS annulled a decision of the Food and Drug Administration (FDA).

Specifically, Sebelius said she would not allow Plan B, the emergency contraceptive to be sold without prescription to those under 17 years, a step that the FDA had approved. (Currently, it is available over the counter only to 17 and over ;. Teens and tweens younger need a prescription to access) In a statement, Sebelius said that 10% of the younger cohort could use the Plan B are barely 11 years old and can not use the drug correctly. These girls have "significant behavioral and cognitive differences" compared to older teens, she explained.

The decision was immediately attacked by health groups of breeding, who said the argument Sebelius is contrary to science. in a carefully worded statement, FDA Commissioner Margaret Hamburg has also resisted Sebelius. Hamburg noted that "I reviewed and thoughtfully considered the data, clinical information and analysis provided by the "drug experts from the FDA," and I agree ... it is adequate and reasonable, well supported, and the scientific evidence that Plan B One-Step is safe and effective and should be approved for a nonprescription use for all females of childbearing potential. "

Plan B has been the source of much controversy during the presidency of George W. Bush. Then, the FDA has been accused of putting politics before science and resist movement to provide Plan B over the counter to adults and teenagers alike. critics now see something similar in the current administration. As the new York Times noted in a news story, "the Obama administration takes a socially conservative position on Plan B, one closer to that of the Bush administration than many of his own liberal supporters. "

many professional groups, including the American Academy of Pediatrics ( . AAP) approve making Plan B available over the counter to anyone partly, this is because time is of the essence: for Plan B to prevent pregnancy, ideally it should be taken within 72 hours unprotected sex, although some studies say it can work up to 0 hours. In a 05 document without order approving Plan B for girls, AAP lamented that pharmacies often do not store the drug and only 35% of surveyed 320 pharmacies Pennsylvania said they could fill an order the day it requested.

President Barack Obama, asked at a press conference today if politics had trumped science in the Plan B decision, walked a delicate line. He defended Sebelius and said he agreed with his decision, but noted that he had stayed out of the process. Sebelius, he said, "could not be sure" that preadolescent girls know how to use a drug that "may end up having a negative effect. ... When it comes to 12 or 13 years, the question is," can we have confidence that they could use Plan B properly? And his judgment was that there was not enough evidence "for this. (The former head office FDA Women's Health Susan Wood, was quoted elsewhere as saying that many other much riskier medications, such as acetaminophen, are widely available without a prescription.)

This is not the first time the Obama administration reversed the scientists, including his own. In September, President Obama rejected the new air pollution standards proposed by the Environmental Protection Agency. In late 09, faced with an outcry, Sebelius refused to approve the recommendations of a working group that challenged the value of donated mammograms before age 50.

Authors pull the plug on Second Handout Viral Link to Chronic Fatigue Syndrome

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Authors pull the plug on Second Handout Viral Link to Chronic Fatigue Syndrome -

A few days after Science fully retracted the controversial article in 09 suggesting that a virus called XMRV plays a role in chronic fatigue syndrome (CFS), the only other supporting document a link between a mouse-related virus and the mysterious condition was officially removed from the scientific record. Yesterday, Proceedings of the National Academy of Sciences ( PNAS ) issued a redemption notice, signed by the seven authors of the 2010 study, which, as Science paper, had come under fire virologists.

"In my mind, they would have done this months ago," says Jonathan Stoye of the National Institute of Medical Research Council for Medical Research in London, who co-authored a study in PLoS ONE in May questioned the results of PNAS paper [

the study PNAS , the principal researcher was Shyh-Ching Lo of the Food and Drug Administration (FDA), has played a special role in the 2-year-old saga that erupted on link XMRV supposed to CFS. News about the first study appeared on the Web after one of the authors, Harvey Alter of the clinical Center of the National Institutes of Health (NIH), reviewed the work at a meeting in Croatia in May 2010. at the time, the science document on XMRV written by Judy Mikovits of the Whittemore Peterson Institute in Reno, Nevada, and colleagues, was under siege, as a number of other studies have failed to replicate data. Alter, a highly respected virologist and winner of an Albert Lasker Award, said Mikovits was right after all, creating excitement among patients eager to find the cause of their elusive disease.

But when PNAS finally published the paper in August 2010, some retrovirologists disputed the authors' claim that their study supported the work of Mikovits. The viral sequences detected in CFS patients by Lo, Alter, and their colleagues were not part of XMRV, but another large group of virus, murine leukemia virus (MLV) -related virus.

However, the work seems to allude to a viral link to this debilitating condition. Using PCR, the team found MLV-related DNA sequences in 32 of 37 CFS patients, and only three of 44 healthy controls. Blood samples from CFS patients back to the 190s, but the team was able to take the eight fresh blood of patients and found DNA evidence of MLV in seven of them. In the 15 years the virus seems to have evolved, the researchers wrote, which is what would be expected for a long term retroviral infection but not if the findings were the cause of the contamination.

But this latter finding actually turned out to be its Achilles heel. In PloS ONE paper Stoye and others argued that the viral DNA sequences identified in fresh samples were very unlikely to have evolved from viruses found 15 years ago. Phylogenetic analysis more sophisticated from a team led by Greg Towers of University College London, published in the Journal of Virology last October, argued the same. "The only realistic explanation," the paper concluded, was that the patient samples or PCR reagents "were contaminated with DNA from the mouse."

Towers said Lo, Alter, and their co-authors has never publicly responded to the article by his team. But they seem to have accepted its conclusions, citing the phylogeny of Towers as one of the reasons for the withdrawal.

The redemption notice cites other reasons. There was not enough left of the original patient samples to be tested by independent researchers, writing team, and additional work to find antiviral antibodies in patients and to isolate the actual virus failed. In addition, the researchers themselves are not able to find MLV in blind MultiLab study group called Blood XMRV Scientific Research Working in which they participated, and which included five samples of their patients original SFC. The group published its findings in Science in September.

Lo and Alter did not respond to interview requests. Press officers at NIH says Alter was on vacation and sent Science initiated a statement "instead of interviews," which resembled closely the text of the retraction and contained no further details.

the retraction removes the only newspaper still left suggesting a role for murine virus in CFS. support for the study of Lo and Alter also come from Maureen Hanson of Cornell University, who has meetings also reported the discovery of MLV sequences as in CFS patients. in an e-mail to Science Insider, Hanson wrote that she did not present these results for publication, "because we can not determine whether these results were due to contamination. "Hanson believes MultiLab a second large study, led by Ian Lipkin of Columbia University, will provide the final answer." I reserve judgment until he is over, "she said.

Head of the Global Fund closes after the Council appoints new CEO

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Head of the Global Fund closes after the Council appoints new CEO -

Michel Kazatchkine announced today that it has decided to resign as Executive Director of the Global Fund the fight against AIDS, tuberculosis and malaria. Kazatchkine, French clinical immunologist who led the Global Fund for 5 years, will remain until March to allow an orderly transition.

Kazatchkine said in a message to staff and partners he left following the decision of the Board of the Global Fund in November to appoint an executive director to oversee a new plan "processing" for future operations. The Director General, which was announced today, will report to the board, not the executive director. "Although I remain fully committed to the Global Fund and its mission, I find that I should not continue as Executive Director in these circumstances," wrote Kazatchkine.

The new General Manager, Gabriel Jaramillo , is a native Colombian and Brazilian citizen who previously worked as CEO of Sovereign Bank. "My priorities for the global Fund are to achieve maximum efficiency, accountability and concrete results that save lives," said Jaramillo in a statement. "Essentially, we start with a reorganization that emphasizes simplicity, discipline and rigor, with grant management as the main business of the institution." It will begin on 1 February.

Global Fund Observer ( GFO ), a newsletter that watchdog of the Global Fund announced today that "this decision by the Council to transfer many responsibilities of Dr Kazatchkine someone else was born from the concern of the Board that the Fund's management leadership was not sufficiently effective. " GFO also noted that the starting Kazatchkine also comes in response to questions, he asked the world earlier this month on the role of Director General Fund. The fund said that all senior managers would report to the CEO rather than the Executive Director, whose role was new "to be determined".

This article has been corrected. Gabriel Jaramillo will start as CEO on February 1 and not on 1 December.

An NIH budget Apartment in 2013

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An NIH budget Apartment in 2013 -

There is little to encourage biomedical researchers in the budget proposal the president released today: the proposal would take the National Institutes of budget (NIH ) health at current levels of $ 30,860,000,000.

While the budgets of most of the 27 NIH institutes remained stable NIH would move some money around through "priorities," said principal NIH deputy director Lawrence Tabak after a press conference today. The agency wants to add $ 64 million, an increase of 11%, the National Centre for the Advancement of Translational Sciences (NCATS). The increase would include $ 40 million for the Cures Acceleration Network (now funded at $ 10 million).

To release these funds, NIH wants to cut $ 51 million of the IDEA program, which are grants for states that get relatively modest funding NIH and administered by the National Institute of General Medical Sciences. Last year, Congress gave NIH great increase compared to what he had asked, so it was a place to cut, Tabak said. Another cut of $ 28 million will come from the budget now- $ 194 million budget of the national study of children within the Office of the Director. The massive study plans to follow the health of 100,000 children to adulthood has found ways to save money by changing recruitment strategies and the use of "existing infrastructure," said Tabak .

To squeeze more subsidies from the budget target of apartment is an increase of 8% of new subsidies, to 672, for a total of 9415 - NIH will put in new grant management policies square. ongoing subsidies will be reduced by 1% below the 2012 level, competing grants not inflationary increases in the coming years, and the NIH will add a new layer of review proposals from researchers who already have at least 1.5 $ million in funding.

However, the success rate is projected to rise slightly for all the lowest time this year from 18% to 19%, says NIH. And although new grants will increase the total number of grants awarded will actually drop 56-35888.

Tabak emphasized the positive: "I think this budget allows us to support an increased number of new and competing grants it is up 8% This budget allows us to continue the implementation of NCATS us. feel is very important. and this budget enables us to pursue our priorities in the basic sciences, scientific innovation and of course support for new researchers. "

But advocates of biomedical research have been disappointed." Overall, we are aware of the overall fiscal position, but we are still very concerned about the proposed freeze, "said David Moore, Director government relations for the Association of American Medical Colleges. It would be the 10th consecutive year that the NIH budget has not kept pace with inflation of biomedical research, he said. Therefore, in dollars adjusted for inflation, "we would be 20% below where we were ten years ago," says Moore.

A new $ 80 million for Alzheimer's research which was announced last week does not come from the NIH budget, but the health Fund Prevention and public of the Ministry of health and social Services, which is a pot of money created by the 2010 law of care health. Tabak said NIH is not known whether the funding is for 1 year or continue in the coming years

Correction :. the proposed reduction in the institutional development Awards (IDeA) program of $ 51 million, not $ 48 million.

Daylight at Last for lung cancer study Risks Diesel

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Daylight at Last for lung cancer study Risks Diesel -

After 20 years of research and almost as many years of defense industry groups to court for control of their data , government scientists can finally publish two documents showing that miners exposed to diesel fumes have an increased risk for triple lung cancer. The study could have significant impact on a future review of federal and international safety requirements for exposure to diesel fumes.

The Diesel Exhaust 11.5 million $ Miners Study (DEMS) -run jointly by the National Cancer Institute (NCI) and the National Institute for Occupational Safety and Health (NIOSH) -Follow 12,315 miners eight mines in Missouri, New Mexico, Ohio, and Wyoming. An industry coalition denounced the study as flawed almost from the start and took the government to court several times. The industry coalition has won a court ruling in 01 after the government has mismanaged a deposit of the procedure, which requires scientists to submit all data and research draft documents before publication, for review period of 0 days.

After a review process by peers throughout the year, the DEMS scientists recently presented to the industry and other copies of two major documents they plan to publish in the Journal of the National cancer Institute . The mining coalition has made no official response, but in mid-February, the 0-day waiting period began to decline, Henry Chajet, a lawyer based in Washington DC and lobbyist for Mine Awareness Resource Group ( MARG), a part of the judicial affairs, sent a letter to at least four scientific journals warning that they risked unspecified consequences if they published the study. (For more on the letter of Chajet, and the merits of the case, see this post.)

Today marks the 91st day after the DEMS scientists submitted to JNCI . With the ongoing legal case (currently on appeal before a federal court in New Orleans) and the possibility of future complications, scientific Dems wasted no time either publication paper (available here and here; NCI and NIOSH also summarized the results here and here).

Debra Silverman, an NCI epidemiologist and lead author of one of the documents of DEMS, is the only original scientific DEMS still working on since its creation in 1992. Then she said groups of industry often challenge studies in the workplace, "in my career, I encounter something like this case. ... it was longer and more difficult. It is perhaps record, I'm not sure. "

rather than comment directly, Chajet issued a statement expressing" disappointment "and claiming that government scientists never turned on all the data and documents they should have before publication . He accused DEMS violate congressional directives and court orders, and criticized the study for being "11 years late and $ 9 million over budget."

Both JNCI papers discuss further aspects of DEMS data. The first, a cohort-analysis paper led by NIOSH, looked all deaths among miners with lung cancer, and other causes. The second, a case-control analysis document managed by Silverman and NCI, focused on the victims of one lung cancer, and controlled for smoking, other respiratory diseases, and previous employment in areas at high risk . Both studies showed consistent and significant results: a risk multiplied by three for lung cancer overall, and increased risk five times for the most heavily exposed to diesel exhaust minors. ( JNCI also published an editorial on the study.)

The timing of the publication of DEMS data is critical because two prestigious groups, the International Agency for Research on cancer and the US National Toxicology Program are set to review their standards on the health risks of diesel exhaust. Their decisions could have financial consequences for many diesel engine users, particularly in lawsuits claiming damages.

Although NIOSH and NCI said in a joint statement that "it will be for regulators to determine if the current acceptable level should be lowered," they added that the DEMS results "should be widely applicable to other workers with similar levels of exposure to diesel exhaust. "

the DEMS study was considered revolutionary at the time because it controlled for factors such as smoking, and because selected mines that produce non-metallic substances such as limestone, potash and salt. These mines do not expose minors to potential carcinogens, such as asbestos, radon and silica, which has . DEMS allowed to better isolate the effects of work around machinery with diesel in enclosed spaces

About 20 years test for the published study, Silverman said, "It was so important to public health that it was worth supporting the challenges. " She added: "It is a very good day for us,"

.

Biobanks asked to help Deliver Bad (genetic) New

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Biobanks asked to help Deliver Bad (genetic) New -

National Institutes of Health

last year, as part of our coverage of the 10th anniversary of the human genome science took a long look at the ethical dilemmas facing geneticists when they search on the given DNA unexpectedly turns mutation or genetic variation that could harm the health of a person, or that of their families. For example, if a DNA sequencing researchers in a study Pedigree discovers a man has a mutation that promotes Alzheimer's disease, should they track down the owner of the DNA and let him know?

Yesterday, as part of a special collection of papers Genetics in Medicine these supposedly results incident, a working group convened by the National Institutes of Health published a series recommendations on how this sensitive information should be handled. The most provocative theme of the report is a strong call for biobanks, the sites are given more DNA stored for use by outside scientists, to assume greater responsibility for the restitution of these conclusions. Traditionally, experts have argued that the researcher generate an accidental result, or their institutional review board, should assume this obligation.

The working group, headed by Susan Wolf, University of Minnesota, Twin Cities, a professor specializing in bioethics law, spent two years collecting data and comments on incidental findings. The group does not contend that the principal investigators are not responsible for the return of such information. But it recommends that each biobank has set up a multidisciplinary committee to deal with accidental discoveries and to create a linked "Central Advisory Body" that would maintain overall consistency on the issue in biobanks.

Biobank officials may be reluctant to take on this new delicate function, neurologist Robert Green of Boston University, said Science last year

"ethicists sit around a table and talk about" the importance of the return of DNA results, "but if you talk to people like me who actually helped the execution biobanks, you can not imagine how we are unable to do so, "says Green. Biobanks should reach the hundreds of thousands who have already shared and request DNA samples if they might want to return information; Currently, almost all consent forms biobank say that genetic results will not be returned. While informed consent forms change, then banks might need to interact with researchers unsure about what to share with a DNA donor and to make decisions, often on a case by case basis, before recontact a participant with a potentially overwhelming search result.

In Nature news story on the new report, Ellen Wright Clayton of the Center for Biomedical Ethics and Society at Vanderbilt University in Nashville, Tennessee, also expressed concern for formalization of a system of return of incidental findings to DNA suppliers: "It is unfortunate that the authors of the consensus statement did not address the financial implications of what they offer, because that they have in mind will be expensive and difficult, especially when the funding success is as low as it has ever been. "

Unfazed by NIH New Way of Peering In Personal Data Genomic

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Unfazed by NIH New Way of Peering In Personal Data Genomic -

results of gene expression

In a provocative article published this week, researchers say they have found a way to link a person's DNA to their anonymous genetic data in some type of public research database. But the National Institutes of Health (NIH), which hosts one of the largest such databases, said that it does not take new measures to prevent someone from using the method of violating privacy. This contrasts with the response of NIH 4 years ago when a similar study prompted the agency to extract genetic information from its public websites.

The question then the relevant studies that compared the DNA variations called single nucleotide polymorphisms (SNPs) in people with and without disease to find disease risk markers. NIH began publishing online SNP results grouped hundreds of people, thinking privacy is not violated. But scientists reported in PloS Genetics as if they had a sample of the DNA of an individual, they could link it to SNP results of that person in a public DNA pool. (NIH and the Wellcome Trust) removed the data from public sites; NIH now only allows researchers to download data pooled studies approved SNP diseases.

These access barriers are less common for a different type of genetic data derived measurements of gene activity by analyzing the levels of RNA in a tissue sample. Because these gene expression data was not thought to be traceable to an individual, the researchers regularly filed RNA results in public databases. An example is Omnibus (GEO) the gene expression database of NIH, which holds nearly 1,000 data sets for testing gene expression on human tissue. Anyone can search for data for people who participated in, say, a study of breast cancer or childhood obesity.

Now it seems that these RNA data may be linked to the DNA of a person after all. Eric Schadt and colleagues at Mount Sinai School of Medicine in New York reported this week Nature Genetics they have developed a technique for generating a SNP personal profile, or "bar code "DNA for an individual based on the results of gene expression. This means that, in principle, if someone had a DNA sample from a participant in a study stored in GEO, they could design a SNP barcode match a sample of GEO, and examine the biological data that participant.

Despite consequences similar to those of 08 PloS Genetics paper a remote but real possibility that the participants of the research could be identified NIH is not as concerned this time. In a statement, the agency said that while leaders of the NIH "examine the conclusions" and its implications, "NIH sees no need to change its data sharing practices at the time." spokesman for the Institut National Human Genome Research Larry Thompson explains that the risks appear low because the group did Schadt requires "a complex statistical tool" and "this is not an easy thing to do." the attitude of the NIH was different there 4 years, he said, because "it was the first time," the NIH and felt that he should "go to extreme caution."

Schadt said he did not expect NIH to impose new limits on access to data. His message, he said, was "to show that in fact there may be no way to protect the privacy" of individual genetic data. Instead of blocking access, said Schadt, NIH must educate people there is a chance that their data will remain confidential and will count on the protections "downstream" such as genetic discrimination laws instead.

Attorney Dan Vorhaus, who runs the blog Genomics law Report, should "the idea that we can promise a complete separation of data and identity is now largely discredited." Vorhaus said that NIH should update its data sharing policy to require that the study volunteers be told that the confidentiality of their genetic data can not be guaranteed. "Participants must understand the risk and be free to take that risk if they wish," said Vorhaus.