Filed under Cancer, Diabet Med by admin on December 11, 2010 at 8:36 pm
no comments
Posted on: Saturday, 11 December 2010, 00:00 CST
Advances in genomic medicine are expected to accelerate most notably in five key areas in 2011, following a year when the field made important strides toward addressing deep-rooted inefficiencies in health care delivery.
San Diego (Vocus) December 9, 2010
Advances in genomic medicine are expected to accelerate most notably in five key areas in 2011, following a year when the field made important strides toward addressing deep-rooted inefficiencies in health care delivery.
That’s the opinion of Dr. Eric Topol, chief academic officer of Scripps Health and director of the Scripps Translational Science Institute in San Diego. Dr. Topol says he expects momentum to continue in 2011 in the following top five areas.
1. Prescription Medications. Patients in the United States spend more than $300 billion a year on prescription medications, but in most cases the drugs either don’t work, cause serious side effects, or both. Now, genomic information is providing valuable intelligence to guide more effective use of medications. Pharmacy benefit managers (PBMs) including Medco and CVC/Caremark recently started genotyping a portion of the 100 million patients they cover for compatibility with Plavix and other medicines. These two companies will likely expand screening to more patients and additional drugs in 2011, with other PBMs almost certain to follow suit. Genetic screening for drug therapy will reduce waste and costs, while improving patient care. This needs to be promoted at the local health system level, and not just through PBMs.
2. Cancer. Genomic sequencing is helping doctors more precisely define the “driver” genetic mutations associated with the development and progression of cancer. And now that sequencing is becoming far less expensive, the ability to sequence everyone with a serious cancer may soon be within reach. Besides an improved capacity to zero in on the driver mutations, another important development is taking shape: the choices of drugs that work on these mutations is expanding, with some already being marketed and others in the pipeline. This is significant, since it’s likely that there will be a combination of drugs that will work on the pathway that has gone off track. Using genomics to find and target cancer tumors will expand worldwide in 2011.
3. Diabetes. The scientific community is starting to learn a great deal more about the genomics of diabetes, a growing epidemic that affects 300 million people worldwide. Diabetes has long been perceived in terms of type 1 and 2, but the genome has revealed numerous variants that predispose people to a great many other forms of the disease. For example, some people are unable to transport or make insulin; others may be resistant to insulin at the tissue level, or the insulin can’t get out of the cell. Expanding and refining the number of subtypes of diabetes will enable physicians to match up therapies, rather than the current approach of prescribing a sea of drugs with hit-or-miss results. More efforts are expected to be focused in this area in 2011, along with greater adoption of wireless monitoring of glucose levels.
4. Physician Education. Only about 10 percent of America’s doctors believe they have enough knowledge of genetics to use it in their medical practice, according to a national study. Yet the vast majority of patients indicate their doctors are the ones they trust with their genomic data. Addressing this paradox will be the focus of the College of Genomic Medicine when it launches in 2011. This online learning and credentialing program will take participants through approximately eight hours of instruction on various aspects of genomic medicine, followed by exam they must pass to be certified. When it comes to educating physicians, the stakes are high. Without getting doctors up to speed, all of the new genomic knowledge – particularly in guiding drug therapy – will be wasted.
5. Personal Gene Tests. Despite being castigated by the medical community and government regulators for their inability to accurately predict disease risk, consumer gene tests will continue to offer important benefits to patients. In addition to their main practical application – guiding drug therapy on an individualized basis – these tests can help prompt many consumers to get appropriate health screening tests they otherwise may have forgone. For example, only about half of those 50 and older get colonoscopies as recommended. There is plenty of room for patients to improve their adherence to screening guidelines across all diseases, and personal gene tests may provide an important tipping point for many.
ABOUT SCRIPPS HEALTH
Founded in 1924 by philanthropist Ellen Browning Scripps, Scripps Health is a $2.3 billion, private not-for-profit integrated health system based in San Diego, Calif. Scripps treats a half-million patients annually through the dedication of 2,500 affiliated physicians and 13,000 employees among its five acute-care hospital campuses, home health care services, and ambulatory care network of physician offices and 22 outpatient centers and clinics.
Recognized as a leader in the prevention, diagnosis, and treatment of disease, Scripps is also at the forefront of clinical research, genomic medicine, wireless health care and graduate medical education. Scripps has been recognized by Thomson Reuters as one of the Top 10 health systems in the nation for quality care. With three highly respected graduate medical education programs, Scripps is a longstanding member of the Association of American Medical Colleges. More information can be found at http://www.scripps.org.
Contact: Steve Carpowich
Phone: 858-678-7183
E-mail: carpowich.stephen(at)scrippshealth(dot)org
# # #
For the original version on PRWeb visit: http://www.prweb.com/releases/prweb2010/12/prweb4880284.htm
Source: prweb
More News in this Category
Filed under Diagnostics, Genotyping by admin on November 2, 2010 at 2:29 am
no comments
By Andrea Anderson
NEW YORK (GenomeWeb News) – A genetic study appearing online yesterday in Nature Genetics has uncovered new details about the evolution and spread of the bacterial species behind Black Death and other plague outbreaks.
Researchers from the US, Europe, and China used a combination of sequencing, genotyping, and phylogenetic analyses to characterize Yersinia pestis isolates from around the world, exploring the pathogen’s genetic diversity and relationships between the isolates.
“It’s a very high resolution phylogenomic framework that we established,” co-lead author Mark Eppinger, a microbiology and immunology researcher at the University of Maryland School of Medicine’s Institute for Genome Sciences, told GenomeWeb Daily News, explaining that the study uncovered new biomarkers that can be used to explore the plague bacterium’s evolutionary history.
Their results indicate that Y. pestis originated in and around China and was carried by traders and explorers to southeast Asia, Europe, South America, and Africa in a series of separate events. With the phylogenetic tree in hand, researchers are also learning more about the sources of historical plague outbreaks. And, they say, similar genetic analyses may also be useful for tracking and treating modern-day plague cases.
In an effort to learn more about plague strains from various parts of the world and their historical relationships, the team sequenced 11 Y. pestis isolates from China, Madagascar, Uganda, Turkey, Angola, and the US, comparing these with another six previously sequenced isolates.
Given the hurdles involved in transporting the pathogen between and within countries, Eppinger explained, the team opted to decentralize the sequencing stage of the project, with sequencing being performed at a handful of centers in the US and abroad using the Sanger and/or Roche 454 sequencing.
The researchers then analyzed patterns in the non-repetitive, core regions of new and previously sequenced genomes, using bioinformatics to help find as many informative SNPs as possible.
In so doing, the researchers were able to dig up 1,364 SNPs in coding regions of the Y. pestis genome. They also found additional changes by sifting through data on another 370 isolates.
“The tricky part of the research is actually to find these minor differences in the genomes and make sense out of them,” Eppinger noted.
The team then applied this knowledge of genetic variation for their phylogenetic analyses of the bug, using the Sequenom MassArray SNP array to assess 933 SNP sites in another 286 isolates.
Overall, they noted, Y. pestis strains clustered based on geography, with isolates from specific countries or regions sharing SNPs that could be used to distinguish them from isolates found in other parts of the world.
In general, their results indicate that the plague pathogen is more genetically diverse in a geographic region in and around China, where it appears to have originated more than 2,600 years ago before spreading around the world through several distinct events.
“Plague clearly evolved from — or in the vicinity of — China,” Eppiner said. “All the Chinese isolates we tested are pretty much scattered all over the four major phylogenetic branches.”
Researchers were able to combine phylogenetic clues to the bacteria’s migration with historical information to examine its spread, Eppinger explained, and to learn more about the sources of strains involved in the three plague outbreaks that have occurred during recorded human history.
In general, he said, genetic patterns coincided quite well with known historical events. For instance, the researchers found evidence that some plague pathogens moved from China to western Asia and beyond along the so-called Silk Road that facilitated trade between the regions.
And consistent with historical records, their findings indicate that plague isolates currently found in the US are linked to those introduced by a ship carrying Y. pestis infected rats that stopped in multiple American port cities in the late 1800s.
“All the US isolates that we tested reflect one radiation from a single import,” Eppinger said. “If we try to link our phylogenetic data to historical records we see that plague was most likely imported to the United States in 1899 by a plague ship that departed in Hong Kong and docked on its way in Hawaii and then actually arrived in San Francisco.”
Meanwhile, isolates collected from Madagascar — a region known to harbor plague pathogens that are resistant to the antibiotics typically used to treat plague infections — belonged to a lineage apparently introduced to Madagascar from India in 1898.
Such findings suggest it may ultimately be possible to apply information from the Y. pestis phylogenetic tree to help treat plague cases, Eppinger noted, by genotyping patient-isolated strains at SNPs that are known to correspond to specific countries or lineages. For instance, he explained, plague infections caused by Y. pestis strains resembling those in the Madagascar lineage are more likely to be multi-drug resistant than those belonging to other lineages.
In the future, the researchers hope to get their hands on additional isolates from Asia so that they can get an even more refined view of Y. pestis phylogeny and history, Eppinger noted. They also plan to genotype lineage informative SNPs in Y. pestis from ancient plague cases, such as victims of the medieval plague epidemic, to look at how these patterns relate to those in their phylogenomic framework.
“This extensive SNP-based framework will facilitate future investigations of under-sampled regions, such as Africa and the [former Soviet Union], for which details are still lacking,” the team concluded. “It will also help to elucidate the basis of historical pandemics such as Justinian’s plague and the Black Death through ancient DNA studies.”
Filed under Agriculture, Anim Genet by admin on October 23, 2010 at 4:00 pm
no comments
Science. 2010 Oct 22;330(6003):514-7.
Neafsey DE, Lawniczak MK, Park DJ, Redmond SN, Coulibaly MB, Traoré SF, Sagnon N, Costantini C, Johnson C, Wiegand RC, Collins FH, Lander ES, Wirth DF, Kafatos FC, Besansky NJ, Christophides GK, Muskavitch MA.
Broad Institute, Cambridge, MA 02142, USA.
Abstract
Mosquitoes in the Anopheles gambiae complex show rapid ecological and behavioral diversification, traits that promote malaria transmission and complicate vector control efforts. A high-density, genome-wide mosquito SNP-genotyping array allowed mapping of genomic differentiation between populations and species that exhibit varying levels of reproductive isolation. Regions near centromeres or within polymorphic inversions exhibited the greatest genetic divergence, but divergence was also observed elsewhere in the genomes. Signals of natural selection within populations were overrepresented among genomic regions that are differentiated between populations, implying that differentiation is often driven by population-specific selective events. Complex genomic differentiation among speciating vector mosquito populations implies that tools for genome-wide monitoring of population structure will prove useful for the advancement of malaria eradication.
PMID: 20966254 [PubMed - in process]
Filed under Diagnostics, Genotyping by admin on October 23, 2010 at 2:23 am
no comments
FRIDAY, Oct. 22 (HealthDay News) — An increasingly stubborn
strain of methicillin-resistant Staphylococcus aureus, or MRSA, a
common bacterial infection acquired in hospitals, has been identified in
Ohio, according to research presented at the annual meeting of the
Infectious Diseases Society of America.
The strain, ST239 MRSA, killed 22 percent of the people it infected
within 30 days, the study found. It’s the first time that the strain,
originally identified in Brazil, has been seen in the United States since
the 1990s.
“It does have epidemic potential for outbreak,” the study’s co-author,
Dr. Shu-Hua Wang, said. “It has increased capacity to cause invasive,
serious infection.”
Wang’s group reported that 6.8 percent — or 77 — of 1,126 MRSA
samples collected through the Ohio State University Health Network and
seven rural hospitals in a three-year period from January 2007 to January
2010 were ST239.
Wang, who is an assistant professor of medicine at Ohio State, called
for more genotyping of MRSA isolates.
A second study presented at the conference found that antibiotic
prescriptions in the United States were much higher in the South than in
the West, a finding that held for all types of antibiotics.
The average nationwide was 0.85 prescriptions per person in 2009, the
study found. West Virginia had the highest rate (1.29 per person),
followed by Kentucky, Tennessee, Louisiana, Alabama and Mississippi. The
lowest prescription rates were seen in Alaska (0.52 prescriptions per
person), followed by Oregon, Colorado, California and Washington state.
“The prescribing rate in the South was more than double the prescribing
rate in the West,” said Dr. Lauri Hicks, with the U.S. Centers for Disease
Control and Prevention, adding that the research team would be “exploring
the reasons behind those differences.”
Health experts are interested in the rates, she said, “because
antibiotic use is strongly linked to antibiotic resistance.”
Among other research being presented at the conference, which concludes
Sunday in Vancouver, Canada: three new drugs appear to show promise in
fighting MRSA and other bacteria when current antibiotics fail.
- Fusidic acid, which could fight S. aureus. “This is
pretty exciting because it has no cross-resistance with any class of
antibiotics so it could be used widely,” said Dr. Ronald N. Jones, chief
executive of JMI Laboratories in North Liberty, Iowa, which makes the drug
and funded the study being presented.
- JNJ-Q2. This potential agent belongs to a class of drugs known
as fluoroquinolones and may be effective against S. aureus,
including the methicillin-resistant form. “JNJ-Q2 was 16 times more potent
than the existing marketed fluoroquinolones,” Jones said. The drug is
moving into phase 2 and phase 3 trials, he said.
- A version of cephalosporin. It “may enable us to treat a
broader spectrum of drug-resistant bacteria, although it probably won’t be
on the market till 2013 or 2014,” Jones said.
Also being presented at the conference is a study involving a computer
model that found that “universal contact precautions” — requiring anyone
visiting a MRSA patient in the hospital to wear gloves and a gown — were
more effective at preventing MRSA infection among patients in
intensive-care units than were other strategies.
But the approach was expensive. The study’s lead author, Dr. Courtney
A. Gidengil, an instructor in pediatrics at Children’s Hospital of Boston
and Harvard Medical School, said that other strategies might be less
effective but they are also less costly.
Another study presented at the conference found that
carbapenem-resistant Enterobacteriaceae, or CRE, which carries a
high mortality rate, is becoming more prevalent in the Chicago area.
More information
The CDC’s Get
Smart campaign has more on when antibiotics work and when they don’t.
