JAX - Personalized Medicine News from The Jackson Laboratory

Companion diagnostics take off

Mon, 16 Nov 2009 14:31:20 -0500

October 13, 2009/GenomeWeb Technology - As the saying goes, all good things must come to an end. And for pharma, that means banking on the one-size-fits-all model of drug development. Companion diagnostics, a relatively new concept that's hitting the frontlines of drug discovery and development, is promising to change the way drugs are made and marketed.

With more and more biomarkers being discovered and validated, the field of companion diagnostics has more than a leg to stand on. Using a companion test - whether it looks for genetic, proteomic, or gene expression markers - to predict whether a drug will work in someone or what kind of dose that person should take is becoming more common and, according to experts, will eventually become the norm. "It's a new field, and it's growing," says Peter Tolias, executive director of the Institute of Genomic Medicine at the UMDNJ-New Jersey Medical School.

Scripps pioneers individualized medicine by offering genetic testing to stent patients

Mon, 16 Nov 2009 12:41:29 -0500

October 8, 2009/San Diego, CA (Vocus/PRWeb) - In what is believed to be a first for a health system in the United States, Scripps Health is now offering genetic testing as part of its care for cardiovascular patients planning to undergo elective stent procedures.

The tests will determine if patients have one or more of the common gene variants linked to an inability to metabolize the anti-clotting drug Plavix (clopidrogel). Plavix is the second-most commonly prescribed drug in the United States and is given to most patients after they receive coronary stents.

The genetic test results will give doctors vastly improved data that will lead to an individualized approach to each patient's treatment following a stent procedure. Stents are tiny metal tubes that cardiologists use to open clogged arteries.

"This represents a landmark program in individualized medicine, based on considerable new data and new choices for one of the most commonly prescribed medications and medical procedures in the world," said Dr. Eric Topol, chief academic officer of Scripps Health. "This program demonstrates Scripps Health's commitment to being at the forefront of individualized cardiovascular medicine."

Gene data tool advances prospects for personalized medicine, starting with type 1 diabetes

Tue, 13 Oct 2009 12:42:02 -0400

October 11, 2009/Philadelphia, PA (ScienceDaily) - A sophisticated computational algorithm, applied to a large set of gene markers, has achieved greater accuracy than conventional methods in assessing individual risk for type 1 diabetes.

A research team led by Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia, suggests that their technique, applied to appropriate complex multigenic diseases, improves the prospects for personalizing medicine to an individual's genetic profile. The study appears in the October 9 issue of the online journal PLoS Genetics.

Genome-wide association studies (GWAS), in which automated genotyping tools scan the entire human genome seeking gene variants that contribute to disease risk, have yet to fulfill their potential in allowing physicians to accurately predict a person's individual risk for a disease, and thus guide prevention and treatment strategies.

By applying a "machine-learning" algorithm that finds interactions among data points, say the authors, they were able to identify a large ensemble of genes that interact together. After applying their algorithm to a GWAS dataset for type 1 diabetes, they generated a model and then validated that model in two independent datasets. The model was highly accurate in separating type 1 diabetes cases from control subjects, achieving AUC scores in the mid-80s.

IBM to Enter DNA Sequencing Field with Nanopore Technology

Wed, 7 Oct 2009 09:52:45 -0400

October 6, 2009/New York, NY (GenomeWeb Daily News) - IBM announced today that it is developing a nanoscale DNA sequencer, with the goal of sequencing a human genome at a cost of under $1,000.

The firm is one of several companies or researchers that have been awarded at least $5.7 million from the National Human Genome Research Institute this year to support their efforts in developing technologies for sequencing a human genome at low cost. The grants are part of NHGRI's Revolutionary Genome Sequencing Technologies grant program, which also is known as the "$1,000 Genome" program.

IBM said in a statement that scientists from four fields - nanofabrication, microelectronics, physics, and biology - are working together to "master the technique that threads a long DNA molecule through a three nanometer wide hole, known as a nanopore, in a silicon chip." The firm said that its researchers are working on a process for controlling the rate at which a DNA strand moves through the nanopore so that a reader can accurately decode what is in the DNA.

National conference focuses on personalized health care

Thu, 1 Oct 2009 09:49:30 -0400

October 1, 2009/Columbus, OH (Central Ohio Source) - With much of the nation's attention focused on the future of health care in the country, many health-care leaders will be in Columbus this week to discuss one growing segment of that future: personalized medicine.

Today and Friday, more than 200 representatives from the health-care industry, government, academia and consumer and patient advocacy groups are expected to convene at The Ohio State University's Biomedical Research Tower to hear from national leaders to talk about topics such as using a person's genes to determine his or her susceptibility to disease or tailoring treatment for disease and ailments.

Personalized health care is a burgeoning industry and this week's conference is one of only a few of its kind held in the U.S. Last year's event was the first held at OSU.

This year, with the backdrop of a national debate on health care, the event is even more relevant, said Clay Marsh, senior associate vice president for research in the OSU Office of Health Sciences, vice dean for research in the College of Medicine and executive director of the OSU Center for Personalized Health Care.

"This is one of the big opportunities for us to provide care that's more personalized - focused care at the individual level," he said.

Analyzing cancer cells to choose treatments

Thu, 1 Oct 2009 09:43:36 -0400

September 30, 2009/New York, NY (MIT Technology Review) - In a new clinical trial for prostate cancer, scientists will capture rare tumor cells circulating in patients' blood, analyze them using a specialized microchip, and use the results to try to predict how well the patient will respond to a drug. The trial reflects a new phase of personalized medicine for cancer, enabled by microfluidics technologies that can isolate scarce cancer cells and detect very small changes in gene expression. Physicians ultimately hope these chips can become a routine part of clinical care for cancer. "We need to be able to profile the tumor at the time we are considering treatment," says Howard Scher, chief of the Genitourinary Oncology Service at Memorial Sloan-Kettering Cancer Center, where the trial will take place.

Alzheimer's researcher demonstrates specific immune response to vaccine

Mon, 21 Sep 2009 16:29:55 -0400

September 21, 2009/Israel (ScienceDaily) - A researcher who is working on a vaccine for Alzheimer's disease (AD) has demonstrated that it is possible to test and measure specific immune responses in mice carrying human genes and to anticipate the immune response in Alzheimer's patients.

This continuing research at Ben-Gurion University of the Negev could one day lead to specific Alzheimer's vaccines that reduce plaque, neuronal damage and inflammation associated with the disease.

Amyloid beta-peptide accumulates in the brain of AD patients where it appears to promote neuronal damage. In the new article published in the Journal of Immunology, BGU researcher Dr. Alon Monsonego determined that introducing A-beta into the brain triggers a natural immune response which can be detected in humans.

Importantly, the research team showed that the specificity and magnitude of this body response to A-beta depends on certain key genes of the immune system, which are highly polymorphic in the population (this means that except for identical twins, almost each of us has a different combination of genes termed "HLA alleles").

New DNA-sequencing techniques to lead to thousands of human cancer gene discoveries.

Thu, 10 Sep 2009 16:28:30 -0400

September 10, 2009/New England Journal of Medicine (Editorial) - Cancer is believed to result from the acquisition of mutations and epigenetic changes that work collaboratively to induce the malignant growth of a cell. The field of cancer genomics has focused on defining the total complement of mutations in a cancer cell, with the belief that this information will drive personalized medicine through the development of improved diagnostic testing, prognostic and predictive markers, and ultimately new therapies directed against cancer-specific mutant proteins.

Although 350 cancer genes have been identified to date (www.sanger.ac.uk/genetics/CGP/Census), we now sit at the beginning of a revolution in cancer genomics resulting from the systematic application of highly parallel, single-molecule DNA-sequencing techniques to a large number of human cancers.1 The prediction is that many new cancer genes will be identified through these efforts, with calculations suggesting the existence of more than 2000 cancer genes.2

Continuing process in the study of cancer genome gives hope

Thu, 10 Sep 2009 09:48:40 -0400

September 10, 2009/New England Journal of Medicine (Editorial, James R. Downing, M.D.) - Cancer is believed to result from the acquisition of mutations and epigenetic changes that work collaboratively to induce the malignant growth of a cell. The field of cancer genomics has focused on defining the total complement of mutations in a cancer cell, with the belief that this information will drive personalized medicine through the development of improved diagnostic testing, prognostic and predictive markers, and ultimately new therapies directed against cancer-specific mutant proteins.

Although 350 cancer genes have been identified to date (www.sanger.ac.uk/genetics/CGP/Census), we now sit at the beginning of a revolution in cancer genomics resulting from the systematic application of highly parallel, single-molecule DNA-sequencing techniques to a large number of human cancers.1 The prediction is that many new cancer genes will be identified through these efforts, with calculations suggesting the existence of more than 2000 cancer genes.2

So why should we care about these findings? First, this study opens a clear window into the rapid advancements that are being made in cancer-genome sequencing. Although the DNA sequence of the first cancer genome was reported by this group less than 10 months ago,4 the present study achieved a deeper (and thus more accurate) coverage of the genome, despite a reduction in the number of sequencing runs by a factor of more than six. Moreover, improved computational algorithms have increased the accuracy of the identification of potential mutations, resulting in a decrease in the number of putative mutations that must be validated. As these improvements continue, the cost of obtaining the complete DNA sequence of a cancer cell will rapidly decrease, thus making it possible to acquire data from a larger number of cancers.

Interview with Dr. Muin Khoury, director National Office of Public Health Genomics (CDC)

Tue, 8 Sep 2009 16:25:20 -0400

September 8, 2009/Interview, NCI Cancer Bulletin - Last December, NIH and the CDC convened a workshop to discuss the science behind personal genomic tests. These tests, which include "genetic risk profiles" for cancer and other common diseases, are sold directly to consumers, who provide DNA through saliva or a cheek swab. At the workshop, representatives from academia, personal genomics companies, government, and policy groups discussed the scientific basis of the tests, what needs to happen before results can be used in the clinic, and recommendations for advancing the field.

Dr. Muin Khoury is the first author of a report on the workshop in the August Genetics in Medicine. He directs the National Office of Public Health Genomics at the CDC and is a senior consultant in public health genomics in NCI’s Division of Cancer Control and Population Sciences.

Some of the questions asked/answered in the interview:
- What are some examples of personal genomic tests?
What are your concerns about some of these products?
- How are risk profiles for cancer determined?
- What is known about the usefulness of these tests in the clinic?

University of Utah researchers find treatment help for Ewings sarcoma

Mon, 31 Aug 2009 10:10:45 -0400

August 31, 2009/PhysOrg.com (Utah) - Researchers at Huntsman Cancer Institute (HCI) at the University of Utah have shed new light on Ewing’s sarcoma, an often deadly bone cancer that typically afflicts children and young adults. Their research shows that patients with poor outcomes have tumors with high levels of a protein known as GSTM4, which may suppress the effects of chemotherapy. The research is published online today in the journal Oncogene.

"Doctors and researchers have long known that certain Ewing’s sarcoma patients respond to chemotherapy, but others don’t even though they have the same form of cancer," says HCI Investigator Stephen Lessnick, M.D., Ph.D. "Our research shows that GSTM4 is found in high levels among those patients where chemotherapy doesn’t seem to work. It’s found in low levels in patients where chemotherapy is having a more positive effect."

The research could lead to drugs that can suppress GSTM4 in certain patients. It also could lead to a screening test that could reveal which therapies will be most effective for patients. "GSTM4 doesn’t seem to suppress the benefits of all chemotherapy drugs, just certain ones. A GSTM4-based test could help to identify the best therapy for each individual patient," Lessnick says.

Family histories still important to successful clinical treatment

Thu, 27 Aug 2009 12:47:26 -0400

August 26, 2009/NIH Press Release - Though most Americans are familiar with completing a questionnaire about their family health history when visiting health care providers, an independent panel was convened by the National Institutes of Health this week to critically assess exactly what we know and what we need to learn about how this process relates to improving health. The conference focused on the use of family history in the primary care setting for common diseases such as diabetes, stroke, cancer, and heart disease. Earlier today, the panel released their findings in a statement that is available at http://consensus.nih.gov.

Cancer biomarker detection software tools earn silver NIH certification

Tue, 18 Aug 2009 10:19:31 -0400

August 18, 2009/Georgia Tech (EurekAlert) - The explosive growth of genomic and proteomic data has ushered in a new era of molecular medicine in which cancer detection, diagnosis and treatment are tailored to each individual's molecular profile. But this personalized medicine approach requires that researchers discover and link biomarkers -- such as genes or proteins -- to specific disease behaviors, such as the rate of tumor progression and different responses to treatments.

Two new software programs that help address that challenge have recently earned silver-level compatibility certification from the National Cancer Institute's cancer Biomedical Informatics Grid®, also known as caBIG®. The programs improve the process of identifying cancer biomarkers from gene expression data.

Developed by May Dongmei Wang and her team in the Wallace H. Coulter Department of Biomedical Engineering at Georgia Tech and Emory University, the programs -- caCORRECT and omniBioMarker -- remove noise and artifacts, and identify and validate biomarkers from microarray data. Funding to develop the programs was provided by the National Institutes of Health, the Georgia Cancer Coalition, Microsoft Research and Hewlett-Packard.

"Certification by caBIG means the tools can be easily used by everyone in the cancer community to improve approaches to cancer detection, diagnosis, treatment and prevention," said Wang, an associate professor in the Coulter Department and a Georgia Cancer Coalition Distinguished Cancer Scholar.

New NIH chief: Turn science into better care, fast

Mon, 17 Aug 2009 12:56:07 -0400

August 17, 2009/Washington (Associated Press) - An influential geneticist who wears his faith on his sleeve says that as the new director of the National Institutes of Health he won't inject his religious convictions into medical research while pushing cutting-edge science into better bedside care.

"The NIH director needs to focus on science," Dr. Francis Collins told The Associated Press on Monday. "I have no religious agenda for the NIH."

In taking the reins of the NIH, Collins - best known for unraveling the human genetic code - said he wants a practical focus for the nation's premier research agency, that new discoveries may even help save precious health care dollars. "We should be completely bold about pushing that agenda," Collins said - not just for U.S. health, but for global health, too.

"Here we are at a circumstance where I think our country is seeking maybe to redefine our image a bit in the world, from being the soldier to the world to being perhaps the doctor to the world. I'd like to see that happen," he said, in his first interview before greeting employees of the $30 billion agency.

Francis S. Collins, M.D., Ph.D., Sworn in as NIH Director

Mon, 17 Aug 2009 12:54:23 -0400

August 17, 2009/NIH Press Release - Francis S. Collins, M.D., Ph.D., today became the 16th director of the National Institutes of Health. He was nominated to lead the NIH, the nation's premiere biomedical research agency, by President Barack Obama on July 8, and was unanimously confirmed by the U.S. Senate on August 7.

In his July 8 nomination announcement, President Obama stated: "The National Institutes of Health stands as a model when it comes to science and research. My administration is committed to promoting scientific integrity and pioneering scientific research and I am confident that Dr. Francis Collins will lead the NIH to achieve these goals. Dr. Collins is one of the top scientists in the world, and his groundbreaking work has changed the very ways we consider our health and examine disease."

"As a scientist, physician, and passionate visionary, Dr. Collins will further NIH's ultimate mission to improve human health," said U.S. Health and Human Services Secretary Kathleen Sebelius. "He is an ideal choice to lead the NIH and I look forward to working closely with him."

New biomarker predicts response to hepatitis C treatment

Mon, 17 Aug 2009 14:20:56 -0400

August 16, 2009/Duke University (EurekAlert) - Researchers have identified the first genetic marker that predicts response to hepatitis C treatments, and a single letter of DNA code appears to make a huge difference. Duke University Medical Center scientists says the biomarker not only predicts who is most likely to respond to treatment and who isn't, but also may explain why there are such different rates of response among racial and ethnic groups, a phenomenon that has puzzled physicians for years.

"For geneticists, understanding response to treatment for hepatitis C infection has been almost like a Holy Grail," says David Goldstein, Ph.D., director of the Center for Human Genome Variation in Duke's Institute for Genome Sciences & Policy and the senior author of the study. "The side effects of hepatitis treatment can be brutal, and about half the time, the treatment fails to eradicate the virus. This discovery enables us to give patients valuable information that will help them and their doctors decide what is best for them. This is what personalized medicine is all about."

The discovery is reported online in the journal Nature.

Cost of decoding a genome lowered by Stanford engineer's invention

Mon, 10 Aug 2009 12:57:48 -0400

August 10, 2009/Palo Alto, CA (New York Times) - A Stanford engineer has invented a new technology for decoding DNA and used it to decode his own genome for less than $50,000.

The engineer, Stephen R. Quake, says the low cost "will democratize access to the fruits of the genome revolution" by enabling many labs and hospitals to decode whole human genomes.

Until now only companies or genome sequencing centers, equipped with large staffs and hundreds of machines, have been able to decipher the three billion units in a human genome.

BloodCenter develops new test to fight leukemia

Mon, 29 Jun 2009 15:33:47 -0400

June 29, 2009/Milwaukee, WI - A new test that can detect the genetic mutation linked to some types of acute myeloid leukemia is expected to help doctors tailor treatment for patients.

The BloodCenter of Wisconsin has developed the test, called CEBPA Mutation Analysis, to gauge the prognosis of those people already diagnosed with acute myeloid leukemia as well as identify the genetic mutation in those who may develop the inherited version of the blood cancer.

This is the first time the test will be available for clinical use, said Roger Klein, the center's medical director of molecular oncology. It is also the first test developed by a laboratory to specifically identify the inherited form of this leukemia.

Getting personal: New tests aid drug performance

Thu, 30 Jul 2009 12:41:26 -0400

July 30, 2009/Chicago, IL (Reuters) - Better diagnostic tests and pressure to lower healthcare costs may finally usher in the era of personalized medicine, in which patients get drugs tailored to their genetic makeup, a new report suggests.

Personalized medicine has been a researcher's dream since 2003 when scientists completed the Human Genome Project -- a decade-long race to sequence all of the DNA in people.

Drug companies and regulators are now looking for tests that increase the odds a high-cost biotechnology drug will work. They are using biomarkers -- such as specific proteins or genes -- to design better and cheaper clinical trials, lowering the cost of drug development.

Study shows a link between schizophrenia and genetic mutations

Mon, 20 Jul 2009 14:35:44 -0400

July 20, 2009/Los Angeles (PR Newswire) - A link between schizophrenia and ultra-rare variants in microRNA genes on the X-chromosome has been identified. Mutations in a subset of these regulatory RNA genes may strongly predispose to schizophrenia. The recently published study in PLoS ONE by the laboratories of Steve S. Sommer, MD, PhD and John J. Rossi, PhD reports the first association of microRNA dysfunction with schizophrenia. This breakthrough may have preventive or therapeutic implications.

A doctor's vision of the future of medicine (Op. ed.)

Sat, 27 Jun 2009 12:49:12 -0400

June 27, 2009/Newsweek - It's June 2018. Sally picks up a handheld device and holds it to her finger. With a tiny pinprick, it draws off a fraction of a droplet of blood, makes 2,000 different measurements and sends the data wirelessly to a distant computer for analysis. A few minutes later, Sally gets the results via e-mail, and a copy goes to her physician. All of Sally's organs are fine, and her physician advises her to do another home medical checkup in six months.

This is what the not-so-distant future of medicine will look like. Over the next two decades, medicine will change from its current reactive mode, in which doctors wait for people to get sick, to a mode that is far more preventive and rational. I like to call it P4 medicine - predictive, personalized, preventive and participatory. What's driving this change are powerful new measurement technologies and the so-called systems approach to medicine.

Personalized medicine successes tempered by significant challenges

Fri, 26 Jun 2009 12:20:56 -0400

June 26, 2009/Science Magazine News & Notes (AAAS) - The practice of personalized medicine still faces significant scientific and policy challenges, experts said at a recent colloquium co-organized by the Food and Drug Law Institute and AAAS.

Even the most successful forays into individualized diagnoses have had mixed results, the speakers agreed. And issues of regulation, physician training, and insurance have clouded at least the immediate future of the field.

While promising molecular discoveries and new diagnostic tests proliferate, said Dietrich Stephan, president of the Ignite Institute for Individualized Health, there has been "very little oversight on what's real and what's not real" in the realm of personalized medicine.

FDA's current ability to regulate genetic testing is problematic, colloqium attendees say

Mon, 22 Jun 2009 12:00:48 -0400

June 22, 2009/PRNewswire-USNewswire (Washington, D.C.) - The Food and Drug Administration's (FDA's) ability to regulate genetic testing is problematic, according to a recent polling of personalized medicine stakeholders.

Three-quarters of the attendees at a colloquium on personalized medicine, sponsored by the Food and Drug Law Institute (FDLI) and the American Association for the Advancement of Science (AAAS) responded "yes" to the audience question, "Do you have concerns about the ability of the FDA to regulate genetic testing?" However, 72 percent of the attendees also responded that FDA should be charged with ensuring standardization of testing protocols and interpretation across labs, clinical validity of testing and clinical usefulness of tests. And 71 percent agreed that FDA should regulate genetic testing, including laboratory-developed testing, more stringently. Genetic testing is regarded as a key component of personalized medicine.

'Personalized medicine' advances colon cancer treatment - Testing for K-RAS gene mutation helping pinpoint individual therapies

Fri, 19 Jun 2009 15:03:34 -0400

June 19, 2009/Plainview, NY (PRWEB) -- Colon cancer is the second leading cause of cancer deaths in the United States today. If you're one of the 150,000 cases of colon cancer diagnosed each year, a new test for K-RAS gene mutation will help your oncologist identify the medicines that will help you most. That's the recent conclusion of both the American Society for Clinical Oncology and the National Comprehensive Cancer Network. Olga Falkowski, MD, a board-certified pathologist and associate medical director of Acupath Laboratories, Inc., which conducts leading-edge molecular and immunohistochemical testing, agrees. "Until recently, treatment for colon cancer patients was determined by results of controlled clinical trials. Now, advances in the identification and understanding of molecular and biochemical events leading to the development of cancer and tumor growth, mean cancer treatments can be targeted to an individual's own biology."

An orchestra in need of a conductor - the need to develop a better alternative to "one size fits all" approach

Tue, 23 Jun 2009 14:57:58 -0400

June 19, 2009/CBS News Op. Ed (Michael Rugnetta).- Americans today are guinea pigs in a "one-size-fits-all" approach to medicine. Clinical trials designed to gauge if a treatment works for most people most of the time, ignore the influence of genes on health and wellness. Since one size does not fit all, patients are left to travel down a winding path of physician-led trial and error.

Different people don’t respond the same way to the same medical treatments. We have known this for quite some time, but we don’t have a cohesive system for organizing and using the information we have. Granted, there is still a lot we don’t know, especially when it comes to genetics. But we are learning fast. The fact is, personalized medicine will represent a marked improvement over the current system, a new kind of medicine where physicians, researchers and patients get the information they need in a form that they can understand and use, a place where the results of genetic and other kinds of tests are used to tailor drugs and treatments to individual patients.

New era of gene-based 'personalized medicine' dawning

Wed, 10 Jun 2009 14:12:21 -0400

June 10, 2009/Miami Herald - Six years ago, scientists announced the completion of the Human Genome Project, a historic effort to decipher each of the 3 billion letters in the genetic instruction book for our species. A single anonymous male from Buffalo, N.Y. - code name RP11 - provided the bulk of the DNA used for the project.

Now, many thousands more people are contributing DNA samples for a wide array of follow-on studies designed to turn the project's findings to practical use in health care, genetics and biological research.

Researchers and doctors have opened a new era of "personalized medicine'' that seeks to tailor therapies to patients based on their unique genetic makeups and medical histories.

Researchers find five genetic biomarkers to help fight diabetes

Mon, 15 Jun 2009 09:42:10 -0400

June 15, 2009/Science Daily (Phoenix) - Translational Genomics Research Institute (TGen) scientists have identified five genetic biomarkers that could help lead to improved treatments, with fewer side-effects, for patients with diabetes.

TGen Senior Investigator Dr. Johanna DiStefano presented the findings in New Orleans on June 6, 2009, at the 69th Scientific Sessions of the American Diabetes Association.

"We identified genetic variants that may predict how well someone will respond to the common anti-diabetes drug, Actos," said Dr. DiStefano, Director of TGen’s Diabetes, Cardiovascular & Metabolic Diseases Division. "The implications of these findings include determining which patients will best respond to the drug for the prevention or treatment of diabetes. In addition, this work lays the foundation for personalized medicine for patients with this disease."

Personalized medicine involves the rapid application of laboratory discoveries to therapies, depending on the individual genetic make-up of each patient.

Gene variation associated with resistance to chemotherapy drug in women with breast cancer

Tue, 9 Jun 2009 14:03:00 -0400

June 9, 2009/News-Medical.net - Researchers have found links between an individual's genetics and their response to treatment with chemotherapy. The findings, by researchers at the National Cancer Institute (NCI), part of the National Institutes of Health, and colleagues, show how a genetic variant, located in the SOD2 gene, may affect how a person responds to the chemotherapy drug cyclophosphamide. Cyclophosphamide is used in the treatment of breast and other cancers.

The SOD2 gene produces a key protein that protects cells from damage by molecules known as reactive oxygen species, or free radicals. Reactive oxygen species are produced by normal cellular processes and the action of some chemotherapy drugs. The findings represent the first preliminary evidence pointing toward a mechanism and a potential biomarker for cyclophosphamide resistance in breast cancer patients. The study appeared online June 9, 2009, in Clinical Cancer Research.

Making personalized care routine: Matching tumor's genetic information with treatment regimens

Thu, 4 Jun 2009 15:30:33 -0400

June 4, 2009/A small group of oncologists and pathologists from five medical centers gathered last fall to talk about the nuts and bolts of personalizing cancer care. On the table were a host of practical issues related to one big question: Can hospitals routinely use genetic and molecular information from tumors to match patients with the most appropriate drugs in an affordable and timely manner?

The answer to this question may not come for years. But some lessons about what works and what doesn’t could emerge much sooner. Massachusetts General Hospital and Memorial Sloan-Kettering Cancer Center (MSKCC) have begun to screen all lung tumors for genetic changes that could reveal whether a particular treatment is likely to work or should be avoided.

Lymphoma vaccine is an immune system "smart-bomb" in treating cancer

Thu, 4 Jun 2009 15:22:58 -0400

May 31, 2009/HealthDay News - In a new study, patients with follicular non-Hodgkin lymphoma who received a vaccine made from their own cancer cells went more than 44 months before relapsing, compared to only 30.6 months for those who didn't get the vaccine.

The vaccine trial was one of several studies from the new frontier of "personalized medicine" presented Sunday at the American Society of Clinical Oncology (ASCO) annual meeting, in Orlando, Fla.

The approach aims to hit cancer hard by tailoring treatments to the patient's own genetics or disease, among other factors. The lymphoma study differs from other vaccine trials in that the tool was patient-specific, study author Dr. Stephen Schuster, an associate professor at the University of Pennsylvania School of Medicine, explained at a Sunday news conference.

The findings could signal a whole new direction in how vaccines are used against cancer, experts said. "The novelty of the vaccines is that they were individualized to each patient, and that they were directed against a cancer-specific target," said Dr. Louis Weiner, director of Georgetown's Lombardi Comprehensive Cancer Center in Washington, D.C. "Many vaccines are directed against cancer-associated targets and always run the risk of damage to normal cells."

But the lymphoma vaccine is "almost like an immune-system 'smart bomb,'" Weiner noted. "It only goes after malignant cells, and that's very attractive."

Chinese scientists create pluripotent stem cells from pigs

Thu, 4 Jun 2009 14:32:00 -0400

June 3, 2009/Sciene Daily - Scientists have managed to induce cells from pigs to transform into pluripotent stem cells - cells that, like embryonic stem cells, are capable of developing into any type of cell in the body. It is the first time in the world that this has been achieved using somatic cells (cells that are not sperm or egg cells) from any animal with hooves (known as ungulates).

The implications of this achievement are far-reaching; the research could open the way to creating models for human genetic diseases, genetically engineering animals for organ transplants for humans, and for developing pigs that are resistant to diseases such as swine flu.

New test may detect, prevent organ rejection in transplant patients

Wed, 27 May 2009 10:38:55 -0400

The dream of personalized medicine is one step closer today with the launch of the second phase of Biomarkers in Transplantation, an innovative translational research initiative that will eventually allow doctors to identify which patients rejecting a transplanted organ with a simple blood test, aimed at eliminating the need for expensive, painful post-surgery biopsies and reducing the burden of transplantation costs on the health care system.

The initiative is funded by Genome British Columbia and the PROOF Centre of Excellence. The Biomarkers in Transplantation project is making use of advanced genomic, proteomic and computational tools to develop the test, which will diagnose organ rejection before and when it happens by allowing doctors to intervene much earlier and to personalize the patient's immunosuppressant therapy.

The future of personalized cancer treatment: An entirely new direction for RNAi delivery

Thu, 21 May 2009 21:30:43 -0400

May 17, 2009/EurekAlert (San Diego School of Medicine) - In technology that promises to one day allow drug delivery to be tailored to an individual patient and a particular cancer tumor, researchers at the University of California, San Diego School of Medicine, have developed an efficient system for delivering siRNA into primary cells. The work will be published in the May 17 in the advance on-line edition of Nature Biotechnology.

"RNAi has an unbelievable potential to manage cancer and treat it," said Steven Dowdy, PhD, Howard Hughes Medical Institute Investigator and professor of cellular and molecular medicine at UC San Diego School of Medicine. "While there's still a long way to go, we have successfully developed a technology that allows for siRNA drug delivery into the entire population of cells, both primary and tumor-causing, without being toxic to the cells."

Personal Genome Project opens doors to individualized health care and more

Fri, 15 May 2009 13:44:01 -0400

May 14, 2009/Northwestern University (IL) - Founder of the Personal Genome Project George Church spoke for students at the Northwestern Center for Genetic Medicine this week. In his talk, he outlined a not-so-distant vision of medical care tailored to your genetic makeup that might include everything from predicting disease risk to automatic delivery of safe meals at a restaurant.

Church launched the Personal Genome Project in 2005 in an attempt to build on the Human Genome Project. The professor of genetics at Harvard Medical School was interested in learning how our genes, environment and personal traits fit together. He saw the opportunity from quickly developing computer sequencing technology and was inspired by Wikipedia and social networking software to make the information open access.

"The more public it is, the more you really expect to gain from it," Church said. "Otherwise, it’s hard to discover things." The Personal Genome Project collects and decodes personal genetic information with the goal of identifying and treating diseases to which individuals might be susceptible. Church hopes that by making participants’ stem cell lines available (through hair samples they donate), researchers will be able to reprogram those cells for resistance to viruses, cancers or even aging. If the person were to succumb to a particular disease or needed a transplant, they could potentially rely on their own cells to create organs.

Information technology key to effective personalized patient care; hospital in Wisconsin takes full advantage of IT tools

Thu, 14 May 2009 10:51:58 -0400

May 13, 2009/Wisconsin Technology Network - Milwaukee-based Aurora Health Care highlighted two of its programs through which data is used to build a more personal health care system for patients at WTN Media’s seventh annual Digital Healthcare Conference 2009 last week.

One project, in part, is developing a "nursing knowledge repository" that turns a wealth of information into "actionable knowledge," which is embedded into an electronic information system. The Knowledge-Based Nursing Initiative involves researchers, computer engineers, nurses and information technology professionals in applying informatics to the work nurses perform.

Aurora this year also launched a robot-enabled biorepository to collect and store tissue samples. This ORBIT (Open-Source Robotic Biorepository and Informatics Technology) biobank will enable Aurora to collect large amounts of tissue from consenting patients for use in individual patient care, and also for research.

Diagnostic testing regulations overhaul necessary for effective personalized medical care

Tue, 5 May 2009 09:25:40 -0400

May 5 /PRNewswire-USNewswire (Washington, D.C.) -- To "get personalized medicine right," Health and Human Services (HHS) Secretary Sebelius will need to "create and implement a reasonable and responsible regulatory framework" for genetic tests and other advanced medical diagnostics, a diverse coalition of more than a hundred organizations representing genetic testing laboratories, patient advocates, investors, and health policy researchers said today.

Regulatory oversight of genetic testing needs to "strike the right balance between assuring patient safety and embracing policies that encourage the incorporation of rapidly advancing scientific methods and knowledge," the group wrote. Moreover, "it is essential that new regulatory oversight policies be clearly stated and publicly vetted before they are implemented," they said.

How to save a trillion dollars

Fri, 8 May 2009 09:18:35 -0400

May 4, 2009/Science Daily (MIT) - America needs a Human Genome Project for personalized health care. Companies that offer genetic testing and other health-risk analysis services will become a way to save billions in health care costs down the road.

Jackson, UNC pioneer new approach for predicting drug safety

Mon, 4 May 2009 17:12:02 -0400

May 4, 2009/The Jackson Laboratory - Adverse reactions to medications represent one of the leading causes of death in the United States. But there may be a way to predict who is most likely to suffer a toxic side effect to a drug before it's prescribed.

In a study published online May 4 in the journal Genome Research, researchers at The Jackson Laboratory in Bar Harbor, Maine, the University of North Carolina at Chapel Hill, and other institutions report a new approach to testing drugs for potential toxicity, one that could someday result in more people benefiting from existing drugs.

In effect, the study has created a system that enables researchers to gather interesting clues about what makes some people susceptible to drug toxicity and then explore them in mouse models. But the team believes perhaps the greatest impact this research could have is to improve the drug development process - to begin to understand what properties of a drug can make it toxic, and to identify the people most vulnerable to those toxicities.

A large part of the cost of developing a new drug that can go out for therapeutic use lies in the clinical trials, says Jackson Laboratory Senior Research Fellow Ken Paigen, Ph.D., a coauthor of the study, "because the vast majority of the drugs that enter clinical trials don't make it through. They either turn out to lack efficacy or they have side effects that are too serious to put the drug into the general population.

Hear Dr. Paigen discuss his findings in this informal, 6-minute video.

"Pharmacogenomics": Say that 10 times fast!

Wed, 29 Apr 2009 15:23:06 -0400

April 29, 2009/Wisconsin Technology Network - A Milwaukee-based health care organization has launched a technology-driven biobank at one of its hospitals that aims to link science, technology and patient care.

Aurora Health Care’s Open-Source Robotic Biorepository and Informatics Technology (or ORBIT) databank could help determine whether patients may benefit from a certain drug, and will enable scientists around the globe to share information for research and medical discovery. Aurora hopes to implement this biorepository program system wide within a year.

Turning hope into reality - Genomics research at the VA

Thu, 30 Apr 2009 12:34:09 -0400

April 29, 2009/PR Newswire (Washington, D.C.) - VA's Office of Research and Development is at the forefront of developing safer, more effective treatments based on new knowledge about the role of genes in health and disease. VA is superbly fitted to study genomics--the use of patients' individual genetic profiles to customize care--because of its genomics laboratory; large and diverse patient population; world-class investigators; an integrated network of basic research and clinical application; and an unequaled electronic medical record system that will in time incorporate genetic information.

Promising advances in cancer treatment, diagnosis, prevention seen in genetics research

Wed, 29 Apr 2009 09:00:02 -0400

April 22, 2009 / Health Daily News - New studies show that discoveries in genetic variations have helped clinicians diagnose potential future cases of ovarian cancer, chronic lymphocytic leukemia and other forms of cancer.

White paper: Federal government increasingly supporting individualized medicine approach

Thu, 5 Mar 2009 09:13:33 -0500

Ohio State University, 3/2/09 - As the Obama administration takes its first actions toward health care reform, there are signs that the federal government is increasingly invested in the importance of personalized health care in controlling health care costs and improving care outcomes - conclusions found in The Ohio State University Medical Center's recently released position paper, "Lessons for the future of personalized health care."

Scientists gather to chart "total reboot" for medicine

Thu, 5 Mar 2009 09:14:40 -0500

San Diego Union Tribune, 2/28/09 - A scientific conference in California was organized to discuss how genetic testing can be used to fuel a sea change in health care.

Seemingly every day scientists find new genetic links to disease. Yesterday, it was a gene linked to Lou Gehrig's disease, an ultimately deadly neurodegenerative disorder. But what do we do with all this information other than use it to help predict disease?

"Because of genomics, all of medicine is set for a total reboot," said Dr. Eric Topol, a cardiologist and geneticist at Scripps Health and the Scripps Research Institute, which are sponsoring the gathering. The result will be personalized care that is more effective and cost efficient, he said.

Genetic tests can be crystal ball to your heart’s future

Thu, 5 Mar 2009 09:17:35 -0500

CNN, 2/27/09 - Dr. Robert Superko, a metabolic and genetic specialist at St. Joseph's Hospital in Atlanta, Georgia, believes genetic or DNA testing is a more accurate way to find out which patients are predisposed to certain cardiac conditions.

Op-ed: Why one size doesn’t fit all in medicine

Mon, 23 Feb 2009 17:36:41 -0500

The Boston Globe, 2/23/09 - "Sex matters - especially in the doctor's office."

At every level of the human body there is a host of differences between the sexes. Only recently have we started to understand how these differences impact the prevention, diagnosis, and treatment of disease.

Gene test helps set accurate blood thinner dose

Wed, 18 Feb 2009 17:39:53 -0500

The Associated Press, 2/18/09 - Gene testing is part of a new approach to provide the correct dose of warfarin, a leading blood thinner to prevent clots that cause heart attacks and strokes.

Research intensifies towards personalized cancer treatment

Tue, 17 Feb 2009 17:44:31 -0500

RedOrbit, 2/17/09 - A wave of new research is shifting the direction of cancer treatment away from a one-size-fits-all approach towards more tailored therapies based on a tumor’s genetic makeup.

Personalized medicine using genetic testing still far off

Wed, 25 Feb 2009 09:08:46 -0500

MedPage Today, 2/6/09 - Even strong associations between gene variants and disease do not necessarily translate into useful clinical tools for evaluating individual risk, say researchers at the University of Pennsylvania School of Medicine.

Individualized approach to breast cancer treatment

Fri, 30 Jan 2009 13:08:53 -0500

ScienceDaily, 1/28/09 - Not all breast cancers are the same, and not all will have fatal consequences. But because clinicians find it difficult to accurately determine which tumors will metastasize, many patients do not receive the therapy that fits their disease.

Researchers at Tel Aviv University announced a new approach to breast cancer identification that could pave the way for treatments as individual as the patient herself.

Tel Aviv University has now refined breast cancer identification so that each course of treatment is as individual as the woman being treated. The new approach -- based on a combination of MRI and ultrasound -- is able to measure the metabolism rates of cancer cells. The approach helps determine at an earlier stage than ever before which cells are metastasizing, and how they should be treated.

The method, expected to start clinical trials in 2010, is currently being researched in Israel hospitals.

My genome, my self

Fri, 30 Jan 2009 14:25:08 -0500

The New York Times, 1/7/09 - Like the early days of the Internet, the dawn of personal genomics promises benefits and pitfalls that no one can foresee. It could usher in an era of personalized medicine, in which drug regimens are customized for a patient’s biochemistry rather than juggled through trial and error, and screening and prevention measures are aimed at those who are most at risk....

NIST calls personalized medicine a ‘critical, national need’

Fri, 30 Jan 2009 14:25:54 -0500

GenomeWeb News, 1/2/09 - The National Institute of Standards and Technology wants genomics, proteomics, and other biomedical researchers to submit ideas about needed advances in personalized medicine, and has asked for white papers detailing these pitches.

The NIST call is part of a new program asking for input on a number of subjects it has deemed "areas of critical national need," including personalized medicine, and the advice will be used to develop new competitions for funding under its Technology Innovation Program.

In the area of personalized medicine, NIST said in a listing in the Federal Register, researchers could describe needs for advances in genomics and proteomics that could be used to help doctors develop personalized drug treatments and dosages.