New Products: Roche's GS GType Primer Sets; Illumina's MyGenome; NextBio's NexBio Clinical

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

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New Products: Roche's GS GType Primer Sets; Illumina's MyGenome; NextBio's NexBio Clinical

Illumina in Discussions with 100 Potential Clinical Customers for MiSeq, Plans Cancer Diagnostics

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

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Illumina in Discussions with 100 Potential Clinical Customers for MiSeq, Plans Cancer Diagnostics

After Moving MammaPrint to FFPE Format, Agendia Sees Revenue Boost, Increasing Adoption

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

Continue reading here:
After Moving MammaPrint to FFPE Format, Agendia Sees Revenue Boost, Increasing Adoption

CARGO II Results on XDx's AlloMap Provide Validation for European Heart Transplant Market

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

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CARGO II Results on XDx's AlloMap Provide Validation for European Heart Transplant Market

Mayo Researchers Use Whole-Genome Sequencing, Mouse 'Avatars' to Study Breast Cancer Resistance

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

Continue reading here:
Mayo Researchers Use Whole-Genome Sequencing, Mouse 'Avatars' to Study Breast Cancer Resistance

UNC Team Takes Proteomic Approach to Study Drug Resistance in Triple-Negative Breast Cancer

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

Continue reading here:
UNC Team Takes Proteomic Approach to Study Drug Resistance in Triple-Negative Breast Cancer

People in the News: Mariana Vaschetto; William Hayes

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

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People in the News: Mariana Vaschetto; William Hayes

Somalogic Publishes First Data on Use of Somascan in Tissue Samples, Considers Offering Reagents for IHC

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

Excerpt from:
Somalogic Publishes First Data on Use of Somascan in Tissue Samples, Considers Offering Reagents for IHC

Funding Update: NSF Bioinformatics Grants Awarded March 20 — April 18, 2012

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

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Funding Update: NSF Bioinformatics Grants Awarded March 20 — April 18, 2012

New Products: A New Mass Spec Technique from AB Sciex and More

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

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New Products: A New Mass Spec Technique from AB Sciex and More

Downloads & Upgrades: Roche's 454 Software, Omixon Simulation Service, OmicsOffice, and Others

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

Excerpt from:
Downloads & Upgrades: Roche's 454 Software, Omixon Simulation Service, OmicsOffice, and Others

People in the News: Josh LaBaer in as New President of US HUPO and More

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

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People in the News: Josh LaBaer in as New President of US HUPO and More

Doctor’s role is key to cancer fight

DURHAM -- Dr. Gary Lyman was drawn into cancer research by the allure of finding a cure for a killer disease.

But he has found acclaim in a less splashy, yet equally vital arena making sure the tools used to treat cancer are put to their best use.

The Duke doctor and researcher has played a key role in establishing guidelines for cancer treatments, both as an adviser to the U.S. Food and Drug Administration and a leader in the countrys major oncology association.

He co-chaired a panel that earlier this month found that obese breast cancer patients are often not given full doses of cancer drugs, which likely contributes to their higher death rates. The researchers from the American Society of Clinical Oncology recommended that all patients receive doses based on their weight and height, a practice many doctors have shied away from for fear of serious side effects from large doses of toxic drugs.

The change will impact an oncologists daily practice and could save thousands of lives a year. Its a good example of Lymans focus on research that can be put into practice quickly, says Dr. Jeffrey Crawford, chief of the division of medical oncology at Duke Medicine.

A lot of the breakthroughs that we see come from clinical trials and we think weve made advances, but those advances dont really happen until they get translated into the community, Crawford said. Hes really trying to do work that improves the care of patients right away.

Earlier this year, the FDA panel Lyman serves on made a controversial decision not to approve the drug Avastin for use in breast cancer patients because of concerns about the drugs effectiveness and side effects. He has also done research on minimizing blood clots during cancer treatment, a problem so common that it was largely dismissed as inevitable.

Lymans research fits in well with a current emphasis on practicality when it comes to cancer treatments, says Dr. Howard McLeod, an expert in analyzing cancer treatments at UNC-Chapel Hill. As hopes for a single magic bullet cure have faded, maximizing the effectiveness of existing treatments has become a major research focus.

Were at the point where we have a lot of patients and we dont know if theyre being best served, said McLeod, director of the UNC Institute for Pharmacogenomics and Individualized Therapy. Lyman has been one of the first to really grab onto this idea that weve got to take the complex science and make it practical.

Cancer hits home

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Doctor’s role is key to cancer fight

Convey, CLC Bio to Provide Combined Software, Hardware NGS Data-Analysis Solution

Fluidigm has tapped Dan Clutter as North American sales director for its eastern sales region. He will be responsible for sales growth in the eastern US and Canada and will be a member of Fluidigm's North American commercial leadership team, according to a spokesperson. Clutter joins Fluidigm from Gentel Biosciences, where he had served as vice president of commercial development since 2009. Before that, he was vice president of sales at NimbleGen Systems, now Roche NimbleGen.

Knome has added some new faces to its executive team, naming Jay Therrien as senior VP and head of global sales, Charles Abdalian as chief financial officer, and Adam Rosenberg as senior VP and head of corporate development.

Therrien was VP of commercial operations and sequencing at Life Technologies, and also had spent five years in various sales leadership roles at Illumina. Abdalian recently was senior VP and CFO of Molecular Insight Pharmaceuticals, and he was senior VP of finance and CFO at Coley Pharmaceutical. Rosenberg previously was an adviser for emerging life sciences companies, co-founder of Clean Membranes, and CEO of Link Medicine.

The company also has appointed Hugh Reinhoff to serve on its scientific advisory board. Reinhoff is currently a managing director of Life Science Venture Partners, an adjunct scientist at the Children's Hospital Oakland Research Institute, and CEO of FerroKin BioSciences.

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Convey, CLC Bio to Provide Combined Software, Hardware NGS Data-Analysis Solution

A New 'Omics Emerges

There are several reasons why some patients may or may not respond to a drug, or may exhibit a certain side effect that other patients do not. Some of those reasons are genetic, as pharmacogenomics researchers have shown certain alleles can predict response to a drug or the likelihood of an adverse reaction. But pharmacogenomics has been unable to explain all the variability in drug response, so metabolomics researchers have stepped in to see whether their discipline can help explain why some patients respond to drugs the way they do.

While metabolomics researchers look at metabolic profiles in plasma, serum, or urine to determine the differences between people with a certain disease and healthy people, pharmacometabolomics- is an extension of that, says Imperial College London's John Lindon. "Once you've got the biomarkers of the disease these are the metabolites you can go back and look for the mechanism by looking at the enzyme pathways, to see which pathways are involved in using up those metabolites," Lindon says. "We look at a group of people's urine and we look for metabolic differences in the pre-dose, which would then be predictive of what happened post-dose."

Like pharmacogenomic researchers, pharmacometabolomic researchers look for signals in a person's biology that may indicate why a drug affects a person the way it does. But instead of looking at genetic differences, these researchers look at differences in enzymes, metabolites, and small molecules. Using nuclear magnetic resonance spectroscopy and different kinds of mass spectrometry, "we look for the metabolic fingerprint that says this person would process this drug differently it might be more toxic in that person or more beneficial in that person. The idea would be to go towards personalized medicine," Lindon adds. His group published the first pharmacometabo-lomic study on pharmacometabolomic phenotyping and its potential use as a personalized medicine tool, in Nature in April 2006.

The benefit of looking at drug response on a metabolic level rather than a genomic level, Lindon says, is that while genomics reveals everything about a person's DNA, it says nothing at all about a person's environment. "Epigenetics tells you about your environment, but genetics and genomics people are largely blind to the environmental influences," he adds. "Metabolism is the endpoint of all the processes of the body, and is exquisitely sensitive to environment."

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A New 'Omics Emerges

Up to the Task

Cancer is an ever-morphing collection of diseases, making understanding its inner workings complicated. This year, as always, many 'omics researchers have taken up the challenge to elucidate cancer a little bit further. For our 8th annual cancer issue, Genome Technology highlights advances and insights gleaned by researchers during the past year. New tools like those of synthetic biology are being put to use trying to rein cancer in. Drug delivery could be mediated by cell surface proteins, Harvard's George Church tells Christie Rizk in her look into his new DNA nanobot tool to deliver cancer drugs directly to tumors. And more researchers, like the University of Michigan's Arul Chinnaiyan, are combining transcriptome, exome, and whole-genome sequencing data to get a more comprehensive look at tumor type and behavior.

In a roundtable discussion this month, GT speaks with a number of cancer experts about cancer sequencing projects, the need for functional genomics studies, and more, beginning on page 44.

Also in this issue, Tracy Vence discusses how PCR-based and other diagnostic tools are being developed or adapted for point-of-care use. Such tests must be easy to use, and amenable to settings with limited resources to make an impact on patient care.

Elsewhere this month, Christie examines the burgeoning world of pharmacometabolomics. Researchers taking this approach to study drug response aim to bring together the best of pharmacogenomics pinpointing relevant genes and metabolomics integrating environmental effects. In particular, researchers have found that a SNP in the glycine dehydrogenase gene is related to response to SSRIs.

With all these approaches, data analysis is ever the problem. In this month's Brute Force column, Matthew Dublin writes that both academic and industry groups are trying to tame the cloud. Both are working to make cloud computing for data analysis seamless and simple, and Matt provides an update on those efforts.

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Up to the Task

NHGRI Plans to Fund More Clinical Sequencing Projects

By Matt Jones

NEW YORK (GenomeWeb News) The National Human Genome Research Institute plans to fund more new research projects that explore how to best use genome sequencing in clinical care, as well as the ethical, legal, and social implications of using that genomic information in the clinic.

After receiving a strong response from the research community to its Clinical Sequencing Exploratory Research program, which funded several new projects late last year, the institute plans to renew the funding call sometime late this spring, NHGRI Program Director Brad Ozenberger told GenomeWeb Daily News on Thursday.

"We had a really strong response to [the first] RFA," he said. "There's a real interest in this area in the community, so we decided to reissue the RFA and expand this consortium. We expected that there would be a good response, but it exceeded our expectations. There is just a lot of activity right now with next-gen sequencing and trying to move some of those technologies into medical care, so this RFA really hit a hot button."

The CSER program was designed to support multi-disciplinary studies involving clinicians, bioinformaticians, and ethicists to explore through specific projects the challenges, opportunities, and ethical questions related to using genome sequence data in clinical care. The research should address critical questions about how to apply genomic sequencing to clinical care in individual cases, "from generation of genomic sequence data, to interpretation and translation of the data for the physician," NHGRI said in a notice about its plans to fund more CSER awards.

Each of these projects are to include three components: a clinical genomics study; a sequencing, analysis, and interpretation of sequence data project; and a study of some of the ethical, legal, economic, and psychosocial implications of using genomic information to diagnose and treat real patients. NHGRI sees these projects as more than studies of specific diseases and their care, but foremost as efforts to evaluate how sequencing can be used in medical practice more broadly.

"The point of the program is not to solve those diseases or discover new disease association alleles, but it is really about the process. So the breadth of approaches in disease areas is going to help us in that area," Ozenberger explained.

Last December, NHGRI granted $40 million to fund the first five CSER projects. These included a project to use and evaluate whole-exome sequencing as a diagnostic tool in searching for genetic errors that may be linked to patients' eating disorders, a study that will use genome and exome sequence data alongside ELSI surveys to study commonalities between colon cancer patients, and an effort to use sequencing and analysis with genetic counseling to study patients with disorders that cannot be easily diagnosed, among others.

These awards primarily went to research universities and institutes with a history of conducting basic genomics research, such as Baylor College of Medicine and the University of Washington, but also went to the large clinical research centers of Brigham and Women's Hospital and Children's Hospital of Philadelphia.

"NHGRI historically has been much more focused on basic research, but with our new strategic direction of moving into genomic medicine, we did have a lot of applicants who are not the typical people we work with at NHGRI," Ozenberger said.

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NHGRI Plans to Fund More Clinical Sequencing Projects

Q&A: GE Healthcare's Mark Dente on the Challenges of Integrating Genomics Data with EMRs

GE Healthcare has taken initial steps to integrate 'omics data into its Centricity electronic medical record system through an exploratory research project that is developing a genomics data analysis infrastructure.

Mark Dente, GE healthcare's chief medical officer for healthcare information technology, discussed the project last week during a panel discussion at the American Medical Informatics Association's Translational Bioinformatics conference in San Francisco.

The panel discussed several projects that are looking to integrate genomics data into EMRs. In addition to Dente, panel participants included representatives from the Electronic Medical Records and Genomics Network, the Pharmacogenomics Research Network, and the HL7 clinical genomics workgroup.

BioInform spoke to Dente after the conference to get additional details about GE Healthcare's genomics infrastructure development plans. The following is an edited version of that conversation.

During your presentation at AMIA, you mentioned that GE Healthcare is developing a genomics analysis infrastructure. Could you provide some more details about what you hope to develop and where those efforts currently stand?

What we presented at AMIA was a mix of our technologies that we have today like our EMR and our ability to have large datasets to do research against. [T]he genomics effort is where we are headed, [but] it is not a product [now and] it may never become a product.

What we are talking about here is the driving of personalized medicine and translational medicine. I am a biomedical, clinical informaticist ... and my claim to fame is to think about knowledge management and clinical decision support and how we can shorten the ... bench-to-bedside timeline, [which] is about 17 years for something to go from research to full adoption in clinical practice. Now you compound that with a part of medicine that most clinicians in clinical practice are [unfamiliar with]. They learn a little bit of genomics in undergraduate school [and] in medical school but how do you educate folks as to ... where the research is going? Finally, how do we deal with new knowledge repositories in medicine?

A lot of our industry is run on old technology. We've made a large investment on the technology side looking at services-oriented-architecture. We can put legacy systems ... and new technology into this new infrastructure and because is platform we can aggregate data across the institution and even across the community and do analytics on this data in our data warehouse.... this SOA architecture is a modern way of doing that. [We have a] joint venture [with] Microsoft [called Caradigm that is] focused around that and advanced clinical decision support.

The final leg is [the] genomics platform itself One thing around genomics is that there needs to be a higher expectation on the technology's ability to handle large datasets. An SOA infrastructure allows us to be more flexible on the technical side of dealing with genomic information. [Also,] you really want to think about a genomic repository external to the EMR. That is my personal approach and how I will strongly suggest that we as GE will approach this. You do not want to clog up your operational EMR database with genetic data because it's just too large. [Also, because] its genetic data, we need to have a higher expectation of security. We have rigorous HIPAA and other internal standards of how we manage and keep private patient information and that will get ratcheted up in the future.

As you start to put data into a genomics database, we need to marry up the genomic data with the phenotypical data coming off an EMR. The real exciting part [is] we can start looking at the genomic data coupled with the phenotypical data in and a genomic analytic engine concept. With a analytics engine and the creation of algorisms to look for signal how do we start to think about running very targeted studies and [looking] for signals that suggest that these four hypothetical genes, [for example,] could be predictive of a [disease] state?

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Q&A: GE Healthcare's Mark Dente on the Challenges of Integrating Genomics Data with EMRs

Eastday-Neurosurgeon, geneticist take top prizes in science

A brain surgeon and a scientist doing basic research on genes were honored with the city's top award for science innovation yesterday.

The prizes went to Zhou Liangfu, 70, a neurosurgeon at Huashan Hospital, and He Lin, 58, a geneticist at Jiao Tong University, who detected many genes related to diseases.

Each will receive 500,000 yuan (US$79,365).

Projects and research involving life science, pharmaceutical development and food safety covered 42 percent of the awards this year.

The two foreign experts who received this year's international scientific and technological cooperation award were also in the medical field. Michael Phillips, a Canadian mental health expert, and Issei Komuro, a Japanese cardiovascular expert, were honored for their efforts to boost China's health development and improve China's position on the international stage.

"Different from previous year's science and technology awards focusing mainly on scientific innovation, this year's awards focused more on the introduction of scientific research into practice and industrialization and its economic result," said Yin Bangqi of the Shanghai Science and Technology Commission. "This encourages scientists to focus on civil needs and translate their research into practical use and create more profits."

Zhou Liangfu said he will put all of his 500,000 yuan prize into his research, which leads neurosurgery development in China. At age 70, he has a full schedule - doing surgery two days a week, serving at an outpatient clinic on Wednesdays and checking his patients on the remaining two days.

"I have been working in clinical practice for almost 50 years and have done over 10,000 surgeries, witnessing the growth of China's neurosurgery from blankness to the current status," said Zhou, who created surgical methods to treat tumors at the bottom of the brain.

He Lin completed the accurate localization, cloning and mutation detection of a gene, IHH, which causes the disease brachydactyly type A-1, which results in babies born with shortened toes or fingers. It is a common but not serious prenatal disease, with a global incidence of about 2 percent.

He also set up the world's largest psychosis sample library and made important progress in studies of psychosis nutrigenomics and pharmacogenomics - the effects of nutrition and drugs on genes. He also confirmed that prenatal nutritional deficiencies seriously increase the risk of schizophrenia.

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Eastday-Neurosurgeon, geneticist take top prizes in science

Study: Higher Plavix Dose Doesn't Improve Response for CYP2C19*2 Carriers; Effient May Be Best Option

By Turna Ray

CHICAGO Data from a prospectively designed, randomized study involving patients who have undergone a percutaneous coronary intervention suggests that individuals who are carriers of the CYP2C19*2 allele experience lower platelet aggregation, and therefore greater response, to standard-dose Effient than they do to high-dose Plavix.

In the study, called RESET, University of Rome's Gennaro Sardella and colleagues also identified a possible platelet aggregation cutoff above which patients may be more likely to harbor genotypic variations in CYP2C19 that compromise their ability to respond to Plavix.

Although the US Food and Drug Administration has placed a "black box" warning on Plavix to note that patients with certain CYP2C19 genotypes may not respond to the drug, physicians have been reluctant to adopt testing without more specific guidance on how genotypic information can guide dosing. Preliminary data from the RESET trial, presented here this week at the American College of Cardiology's annual meeting by Sardella, may further inform such a genotype-driven dosing strategy.

The data confirms results from other trials suggesting that patients who have undergone PCI and harbor certain CYP2C19 alleles respond better to Daiichi Sankyo/Eli Lilly's Effient (prasugrel) than they do to Plavix (clopidogrel), marketed by Bristol-Myers Squibb and Sanofi-Aventis. Specifically, the findings in RESET corroborate results from a retrospective gene substudy of the GRAVITAS trial, in which Matthew Price and colleagues from the Scripps Clinic found that CYP2C19*2 carriers compared to those with the normal allele experienced increased platelet reactivity despite a double dose of Plavix (150 mg/day).

Meanwhile, a prospective study published by researchers at Brigham and Women's Hospital last November in the Journal of the American Medical Association genotyped more than 300 patients with cardiovascular disease and reported the most detailed genotype-guided dosing data for Plavix to date. In that study, called ELEVATE-TIMI 56, the researchers found that patients with CYP2C19*2 genotypes given triple the maintenance dose of clopidogrel (225 mg/day) experienced the same level of platelet reactivity as patients without the CYP2C19*2 allele who received a 75 mg/day dose of the drug. However, the researchers, led by Jessica Mega, found that in patients who carried two copies of the *2 allele, "doses as high as 300 mg daily did not result in comparable degrees of platelet inhibition."

While the Mega study investigated the influence of genotype on response to increasing doses of Plavix, the Sardella study compared the influence of genotype on response to high-dose Plavix and standard-dose Effient. Also, the Meta study broke down Plavix response by whether patients had one or two copies of the *2 allele, whereas Sardella's study only considered *2 carriers versus non-carriers. The retrospective GRAVITAS genetic substudy, meanwhile, also found that *2 homozygous patients fared worse on Plavix than did heterozygous *2 patients.

It is currently controversial in medical practice to use genetic testing to determine whether patients should be treated with Plavix, since a number of studies have come to divergent conclusions about the association between CYP2C19 genotypes and Plavix response, depending on whether researchers focused on surrogate markers of response, such as platelet reactivity, or patient outcomes in terms of cardiovascular events. Many of these studies have been retrospective in design, involved heterogenous disease populations, or been too small to provide definitive answers. Most doctors are waiting for the FDA to provide more definitive dosing recommendations by genotype before deciding whether to adopt genetic testing in this setting.

RESET

In RESET, the study investigators used a crossover, randomized design to compare the antiplatelet effect of standard-dose Effient (10 mg/day) versus high-dose Plavix (150 mg/day) in patients who were stable after a PCI, but had high on-treatment antiplatelet activity upon receiving moderate- to low-dose Plavix. Researchers looked at the relationship between platelet reactivity and CYP2C19*2 genotype when patients were on Effient and then switched to Plavix, or were first on Plavix and then given Effient.

Original post:
Study: Higher Plavix Dose Doesn't Improve Response for CYP2C19*2 Carriers; Effient May Be Best Option